Affinage

BSCL2

Seipin · UniProt Q96G97

Length
398 aa
Mass
44.4 kDa
Annotated
2026-06-09
100 papers in source corpus 46 papers cited in narrative 47 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 9/9 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

Seipin (BSCL2) is a conserved, oligomeric integral ER membrane protein that organizes lipid droplet (LD) biogenesis at ER-LD contact sites and coordinates neutral-lipid, phospholipid, and calcium homeostasis (PMID:18093937, PMID:27564575, PMID:27879284). The protein adopts an Ncyt-Ccyt topology with two transmembrane helices flanking a large luminal loop (PMID:16574104), and assembles into a discrete homooligomeric ring/cage: an undecamer in human, a dodecamer in Drosophila, and a decamer in yeast, each luminal monomer forming a β-sandwich fold that binds anionic phospholipids including phosphatidic acid (PMID:21062080, PMID:30293840, PMID:30327422, PMID:35210614). This cage concentrates triacylglycerol and other neutral lipids within its lumen through luminal hydroxyl/hydrophobic-helix residues (e.g. Ser166) and transmembrane segments, seeding TG nucleation and enabling transfer to nascent LDs, while conformational switch regions and TM-segment constriction drive the conversion of nascent into mature LDs (PMID:33674387, PMID:33481779, PMID:35210614, PMID:35583926, PMID:35938957). Seipin marks stable ER-LD necks that build structurally uniform contacts and prevent triglyceride redistribution by Ostwald ripening; without it cells form supersized or clustered LDs and lose normal ER-LD contacts (PMID:18250201, PMID:27564575, PMID:31178403). Function depends on partner proteins—LDAF1/promethin (TMEM159), which co-forms a TG-laden complex and licenses where LDs form, and the yeast equivalent Ldb16, which concentrates TG within the seipin ring (PMID:26572621, PMID:31708432, PMID:34625558, PMID:30901948). Beyond droplet assembly, seipin scaffolds adipogenic phosphatidic acid metabolism by directly binding lipin 1, AGPAT2 and GPAT3, and seipin loss elevates GPAT activity and PA accumulation while blocking terminal adipocyte differentiation (PMID:25737955, PMID:27806294, PMID:24024128, PMID:32094408); it also negatively regulates sphingolipid synthesis through association with serine palmitoyltransferase and fatty-acid elongases (PMID:31594806). Seipin physically interacts with SERCA and localizes at ER-mitochondria contacts to sustain mitochondrial calcium import and TCA-cycle-dependent lipogenesis (PMID:24807223, PMID:30049710, PMID:35021082). Loss-of-function causes lipodystrophy via unbridled cAMP/PKA-activated lipolysis and ATGL-driven glycerolipid depletion, demonstrated by rescue of differentiation upon lipolysis or ATGL inhibition in Bscl2-null cells and mice (PMID:22269949, PMID:31185001). Dominant N88S/S90L missense mutations disrupt seipin N-glycosylation and cause misfolding, calnexin retention, ERAD-mediated degradation, ER stress and aggregation, producing distal hereditary motor neuropathy/Silver syndrome (seipinopathy) (PMID:14981520, PMID:17387721, PMID:21750110); in neurons seipin additionally controls surface AMPA receptor levels and pre-synaptic vesicle docking (PMID:23173741, PMID:24345054).

Mechanistic history

Synthesis pass · year-by-year structured walk · 15 steps
  1. 2004 High

    Established BSCL2 as the disease gene for a dominant motor neuropathy and gave the first mechanistic clue that pathogenic mutations act through disrupted glycosylation and protein aggregation of an ER protein.

    Evidence Genetic linkage in families plus cellular expression of N88S/S90L mutants with glycosylation and aggregation analysis

    PMID:14981520

    Open questions at the time
    • Did not establish seipin's normal biochemical activity
    • Mechanism linking aggregation to neuronal dysfunction unresolved
  2. 2006 High

    Defined the membrane architecture of seipin, showing it is a double-pass ER membrane protein with both termini cytosolic and a large luminal loop, framing how its luminal and TM regions could engage lipids.

    Evidence In vitro topology mapping with glycosylation reporters and protease protection

    PMID:16574104

    Open questions at the time
    • No information on oligomeric state or ligand binding
    • Luminal loop fold unknown at this stage
  3. 2007 High

    Identified seipin's conserved cellular function at ER-LD contacts by linking its loss to aberrant LD morphology and showing lipodystrophy mutations abolish cross-species complementation.

    Evidence Yeast LD-morphology screen, fluorescence localization, and cross-species complementation with wild-type and mutant human BSCL2

    PMID:18093937 PMID:18250201

    Open questions at the time
    • Molecular step in LD formation not defined
    • Direct lipid-handling activity not shown
  4. 2007 Medium

    Defined the disease mechanism for seipinopathy by showing mutant seipin is recognized as misfolded, retained by calnexin, degraded by ERAD, and triggers ER stress and apoptosis.

    Evidence Calnexin Co-IP, ubiquitination and proteasome-inhibitor assays, ER stress and apoptosis readouts in neuronal and non-neuronal cells

    PMID:17387721

    Open questions at the time
    • Single lab
    • Whether ER stress alone explains motor neuron vulnerability not addressed here
  5. 2008 Medium

    Connected seipin to adipocyte biology, showing it is induced during and required to sustain the adipogenic program and triglyceride-synthesis gene expression.

    Evidence shRNA knockdown in mesenchymal stem cells, adipogenic differentiation assays, qRT-PCR, and mutant localization

    PMID:18458148

    Open questions at the time
    • Downstream effector causing differentiation failure not identified
    • Direct protein partners not yet defined
  6. 2010 High

    Revealed that seipin is a large discrete homooligomer (~9-mer toroid) and tied oligomeric integrity to function via a lipodystrophy-equivalent mutant that forms only unstable complexes.

    Evidence Affinity purification, sucrose-gradient sedimentation, gel filtration, and negative-stain EM of yeast seipin

    PMID:21062080

    Open questions at the time
    • Atomic structure unresolved
    • How oligomer engages lipid not shown
  7. 2013 Medium

    Showed seipin assembles into ring oligomers in human cells and began mapping mutations and partners (lipin 1, 14-3-3β/cofilin actin remodeling) to adipogenesis.

    Evidence AFM imaging of oligomers, Co-IP for lipin-1 binding and 14-3-3β, and knockdown of actin-remodeling components in differentiation assays

    PMID:23458123 PMID:23989774 PMID:24026679

    Open questions at the time
    • Direct vs indirect nature of some interactions not fully resolved
    • Functional separation of domains needed structural confirmation
  8. 2014 High

    Linked seipin to calcium homeostasis, demonstrating a physical SERCA interaction that modulates calcium and fat storage, and identified additional adipocyte partners (ADRP).

    Evidence Reciprocal Co-IP in Drosophila and human cells, genetic RyR-knockdown epistasis, and calcium imaging; iPS-adipocyte Co-IP for ADRP

    PMID:24807223 PMID:26975546

    Open questions at the time
    • ADRP interaction rests on single Co-IP without mutagenesis
    • How calcium control intersects with LD assembly not integrated
  9. 2015 High

    Defined seipin's molecular role at ER-LD contacts as a scaffold/diffusion barrier and a PA-metabolism organizer, directly binding lipin 1 and AGPAT2 and (with Ldb16) preventing ER-LD surface equilibration.

    Evidence Yeast genetics, EM, PA probes, AFM-based direct interaction mapping, and Co-IP with functional PA measurement

    PMID:24024128 PMID:25737955 PMID:26572621 PMID:26637296

    Open questions at the time
    • Stoichiometry of multi-enzyme scaffold not defined
    • Ldb16 human counterpart relationship to LDAF1 unclear at this stage
  10. 2016 High

    Resolved the specific LD-biogenesis step seipin controls—stable ER-LD contact establishment and the nascent-to-mature LD conversion—using live imaging in knockout and patient cells.

    Evidence Live-cell and electron microscopy with time-lapse LD tracking, fatty-acid pulse-chase, in Drosophila, human, and patient-derived cells

    PMID:27564575 PMID:27879284

    Open questions at the time
    • Biophysical mechanism of contact stabilization not yet defined
    • Identity of TG-handling residues unknown
  11. 2016 High

    Connected seipin to additional lipid-enzyme partners (GPAT, SCD1) and tissue phenotypes, showing seipin restrains GPAT and SCD1 activity and that brown-fat-specific loss causes cAMP/PKA-driven BAT atrophy.

    Evidence Co-IP and activity assays, GPAT3 epistasis across yeast/fly/mammals, hepatocyte SCD1 rescue, and brown-progenitor-specific Bscl2 knockout mice

    PMID:21062080 PMID:26975546 PMID:27185876 PMID:27806294 PMID:27838812

    Open questions at the time
    • Whether enzyme regulation is direct or via LD architecture not fully separated
    • Tissue-specific differences in mechanism not unified
  12. 2018 High

    Delivered atomic-resolution structures (human undecamer, Drosophila dodecamer) revealing the luminal β-sandwich and membrane-facing hydrophobic helices, and extended seipin's reach to ER-mitochondria/TCA-cycle calcium control and to ER organelle budding.

    Evidence Cryo-EM with functional mutagenesis and phospholipid binding; Drosophila metabolomics and calcium rescue; yeast Pex30 double-deletion epistasis

    PMID:30049710 PMID:30054465 PMID:30293840 PMID:30327422

    Open questions at the time
    • TM-segment arrangement not resolved in early structures
    • How lipid sensing converts to LD growth still inferred
  13. 2019 High

    Identified LDAF1/promethin as the key conserved seipin partner that co-forms a TG-laden complex and dictates LD formation sites, defined the Ostwald-ripening prevention role, and broadened seipin to sphingolipid suppression and ATGL-dependent lipodystrophy.

    Evidence Co-IP/MS and relocalization rescue for LDAF1; acute removal and model-membrane studies for necks; SPT/elongase Co-IP and activity assays; Bscl2/ATGL double-KO rescue in mice

    PMID:30901948 PMID:31178403 PMID:31185001 PMID:31594806 PMID:31708432

    Open questions at the time
    • Order of LDAF1 dissociation vs TG cluster maturation not fully timed
    • ATGL stabilization mechanism by seipin loss not molecularly defined
  14. 2021 Medium

    Established at residue resolution how seipin sequesters TG—via luminal hydroxyl/hydrophobic-helix residues such as Ser166—and how partner positioning (Ldb16) and TM segments concentrate neutral lipid, plus a nuclear-LD restraint role via lipin-1.

    Evidence Molecular dynamics simulations bridged to site-directed mutagenesis and cell-based TG-transfer assays; yeast Ldb16 structural/MD analysis; seipin-lipin-1 epistasis on nuclear LDs

    PMID:33315072 PMID:33481779 PMID:33674387 PMID:34625558

    Open questions at the time
    • Several conclusions rest on simulation plus single-lab cell assays
    • In vivo relevance of nuclear-LD restraint unclear
  15. 2022 High

    Refined the mechanistic model with a yeast cage structure showing conformational switch regions, a universal neutral-lipid concentrating mechanism, TM-segment neck constriction for budding, and a defined ER-mitochondria contact pool controlling mitochondrial calcium and Krebs-cycle metabolites.

    Evidence Cryo-EM with switch-region mutagenesis; biochemical neutral-lipid binding; all-atom/coarse-grained MD with TM mutants; subcellular fractionation, proximity ligation and acute knockout with metabolomics

    PMID:35021082 PMID:35210614 PMID:35583926 PMID:35938957

    Open questions at the time
    • Coupling of cage open/closed states to in-cell LD budding not directly visualized
    • MAM calcium role vs LD role not mechanistically unified

Open questions

Synthesis pass · forward-looking unresolved questions
  • How seipin's single conserved cage simultaneously coordinates TG nucleation, multi-enzyme PA/sphingolipid scaffolding, calcium handling at ER-mitochondria contacts, and neuronal synaptic functions remains unintegrated.
  • No unified model linking lipid-droplet function to the neuronal AMPA/synaptic vesicle phenotypes
  • Mechanism by which N88S misfolding selectively damages motor neurons not established
  • Relative contributions of direct lipid trapping vs enzyme scaffolding to lipodystrophy unresolved

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0060090 molecular adaptor activity 5 GO:0008289 lipid binding 4 GO:0098772 molecular function regulator activity 4 GO:0005198 structural molecule activity 3 GO:0140104 molecular carrier activity 3
Localization
GO:0005783 endoplasmic reticulum 4 GO:0005811 lipid droplet 4 GO:0005739 mitochondrion 2
Pathway
R-HSA-1266738 Developmental Biology 4 R-HSA-1430728 Metabolism 4 R-HSA-1852241 Organelle biogenesis and maintenance 4 R-HSA-1643685 Disease 3
Partners
AGPAT2GPAT3LPIN1PLIN2SERCASPTLCTMEM159YWHAB
Complex memberships
Seipin homooligomeric ring/cageSeipin-LDAF1/promethin complexSeipin-Ldb16 complex (yeast)Seipin-lipin1-AGPAT2-GPAT3 adipogenic scaffold

Evidence

Reading pass · 47 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2007 Seipin localizes to ER-lipid droplet junction puncta in yeast; absence of seipin results in irregular, clustered, and giant lipid droplets with proliferated ER. Human seipin functionally complements yeast seipin deletion, but lipodystrophy-causing missense mutations abolish complementation, establishing a conserved role at ER-LD contacts in droplet morphology maintenance. Yeast genetic screen for LD morphology mutants; fluorescence microscopy localization; cross-species complementation with wild-type and mutant human BSCL2 Proceedings of the National Academy of Sciences of the United States of America High 18093937
2008 Yeast seipin homolog Fld1p (YLR404W) regulates lipid droplet size; fld1Δ cells form supersized LDs with enhanced fusion activity in vivo and in vitro. Lipid profiling reveals altered phospholipid acyl chain composition in fld1Δ cells. Human seipin rescues LD defects in fld1Δ cells, suggesting conserved function in phospholipid metabolism and LD formation. Yeast deletion screen (~4,700 mutants); live-cell and electron microscopy; in vitro LD fusion assay; lipidomics; cross-species complementation The Journal of cell biology High 18250201
2006 Human seipin is an integral ER membrane protein with two transmembrane helices and an N-cytoplasmic/C-cytoplasmic (Ncyt-Ccyt) topology, with a long luminal loop between the two transmembrane segments. In vitro topology mapping assay using glycosylation reporters and protease protection FEBS letters High 16574104
2004 Heterozygous missense mutations N88S and S90L in BSCL2 cause autosomal dominant distal hereditary motor neuropathy and Silver syndrome. These mutations disrupt N-glycosylation of seipin and result in aggregate formation. Seipin is confirmed as an integral ER membrane protein. Genetic linkage mapping; BSCL2 gene sequencing; cellular expression of mutant constructs with glycosylation and aggregation analysis; immunofluorescence Nature genetics High 14981520
2007 N88S and S90L seipin mutants are polyubiquitinated and degraded via the ER-associated degradation (ERAD) pathway. Mutant seipin stably binds ER chaperone calnexin (indicating accumulation of unfolded protein), activates ER stress markers, and induces apoptosis in cultured cells. Co-immunoprecipitation with calnexin; ubiquitination assay; proteasome inhibitor treatment; ER stress marker expression; apoptosis assay in neuronal and non-neuronal cells Annals of neurology Medium 17387721
2008 BSCL2 expression is strongly induced during adipocyte differentiation and is required for adipogenesis to proceed. Knockdown of BSCL2 allows initial induction of PPARγ and C/EBPα but fails to sustain their expression; key triglyceride synthesis genes (AGPAT2, lipin 1, DGAT2) are persistently reduced. The A212P pathogenic mutant shows aberrant subcellular targeting. shRNA knockdown in C3H10T1/2 mesenchymal stem cells; qRT-PCR; adipogenic differentiation assay; subcellular localization of mutant constructs Diabetes Medium 18458148
2010 Yeast seipin forms a large, discrete homooligomeric complex of approximately 9 copies (~500 kDa), appearing as a toroid by negative-stain electron microscopy. The lipodystrophy-associated A212P equivalent in yeast forms only smaller, unstable complexes, linking oligomeric integrity to function. Affinity purification; detergent sucrose gradient sedimentation in H2O and D2O; gel filtration; negative-stain electron microscopy Biochemistry High 21062080
2011 Seipin deficiency causes unbridled cAMP/PKA-activated lipolysis in differentiating adipocytes, leading to lipid droplet loss and failure of terminal differentiation. Inhibitors of lipolysis (but not PPARγ agonists) largely rescue differentiation defects. Residual adipose in Bscl2−/− mice displays a brown-like phenotype with upregulated UCP1. Bscl2−/− mouse model; in vitro differentiation of MEFs and SVCs; lipolysis inhibitor rescue experiments; gene expression profiling Molecular and cellular biology High 22269949
2014 Seipin physically interacts with SERCA (sarco/endoplasmic reticulum Ca2+-ATPase) in both Drosophila and human cells. Seipin affects SERCA activity and modulates intracellular calcium homeostasis; adipose-specific knockdown of the ER-to-cytosol calcium release channel RyR partially rescues fat storage defects in dSeipin mutants. Co-immunoprecipitation (Drosophila and human); genetic epistasis (adipose-specific RyR knockdown in dSeipin mutants); calcium imaging; lipidomics Cell metabolism High 24807223
2015 Yeast seipin (Fld1) forms a functional complex with the ER membrane protein Ldb16. The Fld1/Ldb16 complex prevents equilibration of ER and LD surface components by stabilizing ER-LD contact sites and acting as a diffusion barrier; its absence causes phospholipid packing defects and aberrant distribution of lipid-binding proteins. Yeast genetics; electron microscopy; proteomics; in vitro lipid-binding assays; fluorescence microscopy of ER-LD contacts The Journal of cell biology High 26572621
2015 Seipin directly interacts with the phosphatidic acid phosphatase lipin 1 and can simultaneously bind AGPAT2. Seipin oligomers physically scaffold AGPAT2 and lipin 1 in a single complex with defined orientation. Seipin knockdown during adipogenesis decreases membrane-associated lipin 1 and increases PA; mutant seipin unable to bind lipin 1 fails to reduce PA levels. Co-immunoprecipitation; immunofluorescence; atomic force microscopy for direct protein-protein interaction and complex architecture Molecular metabolism High 25737955
2016 Seipin mediates a discrete step in lipid droplet formation—the conversion of small nascent LDs to larger mature LDs. Seipin foci in the ER interact dynamically with nascent LDs; in absence of seipin, nascent LDs accumulate and fail to grow, or prematurely acquire lipid synthesis enzymes and expand into giant LDs. Live-cell fluorescence microscopy in Drosophila and human cells; seipin knockout/knockdown; time-lapse imaging of LD growth; quantitative morphometry eLife High 27564575
2016 Seipin is stably associated with nascent ER-LD contact sites (one mobile focal point per LD) in human cells. Seipin KO and BSCL2 patient cells completely lack morphologically normal ER-LD contacts; consequently, protein delivery from ER to LDs and fatty acid incorporation into neutral lipids in cells with pre-existing LDs are impaired. Live-cell fluorescence microscopy; electron microscopy; seipin knockout and patient-derived cells; pulse-chase fatty acid incorporation assay; LD mobility tracking The EMBO journal High 27879284
2016 Seipin physically interacts with microsomal isoforms of glycerol-3-phosphate acyltransferase (GPAT); GPAT activity is elevated in seipin-deficient cells and tissues with altered kinetics. Increased GPAT activity underlies the adipogenesis block and abnormal LD morphology in seipin loss; GPAT overexpression recapitulates supersized LDs in yeast, preadipocytes, and fly salivary glands; GPAT3 knockdown or pharmacological GPAT inhibition partially restores adipogenesis in seipin-deficient cells. Co-immunoprecipitation; GPAT activity assays; genetic epistasis (GPAT3 knockdown, overexpression); pharmacological inhibition in Seipin−/− mouse preadipocytes; multiple organisms (yeast, fly, mammalian cells) Cell reports High 27806294
2018 Cryo-EM structure of human SEIPIN at 3.8 Å reveals an undecameric ring; each luminal domain monomer forms an eight-stranded β-sandwich fold. The undecameric oligomerization state is critical for physiological function. Both full-length SEIPIN and its lumenal domain bind anionic phospholipids including phosphatidic acid. Cryo-electron microscopy structure determination; phospholipid-binding assay; functional mutagenesis of oligomerization-disrupting mutants Developmental cell High 30293840
2018 Cryo-EM structure of Drosophila seipin reveals a dodecameric ring with each luminal domain monomer featuring a hydrophobic helix (HH) positioned toward the ER bilayer and a β-sandwich domain with structural similarity to lipid-binding proteins. Cell-based functional testing indicates seipin oligomers detect forming LDs via HHs and act as membrane anchors enabling lipid transfer and LD growth. Cryo-electron microscopy (~4.0 Å resolution); cell-based functional assays with HH mutants The Journal of cell biology High 30327422
2019 TMEM159/LDAF1 (lipid droplet assembly factor 1) is an interaction partner of seipin; together they form an ~600 kDa oligomeric complex that co-purifies with triacylglycerol. LDs form at LDAF1-seipin complexes. Relocalization of LDAF1 to the plasma membrane co-recruits seipin and redirects LD formation to these new sites. Once LDs form, LDAF1 dissociates from seipin and moves to LD surface. Co-immunoprecipitation; mass spectrometry; re-localization experiments; fluorescence microscopy; LD formation assays at relocated sites Developmental cell High 31708432
2019 Seipin supports the formation of structurally uniform ER-LD necks and facilitates triglyceride delivery from ER to LDs. In absence of seipin, LDs develop heterogeneous sizes via a biophysical Ostwald ripening process, with triglycerides partitioning from smaller to larger LDs through droplet-bilayer contacts. Acute seipin removal from ER-LD contacts; nuclear envelope re-localization of seipin; model membrane studies; quantitative LD size analysis; Rab18-dependent tiny LD formation assay Developmental cell High 31178403
2018 Seipin regulates lipid homeostasis through SERCA-mediated ER calcium homeostasis that maintains mitochondrial calcium import; Seipin/SERCA-mediated ER calcium controls mitochondrial TCA cycle function and citrate levels required for lipogenesis. Reduced mitochondrial calcium in dSeipin mutants impairs TCA cycle and lipid storage, rescuable by replenishing mitochondrial calcium or exogenous citrate. Drosophila dSeipin mutants; metabolomics; mitochondrial calcium measurement; genetic epistasis (TCA cycle and calcium pathway manipulations); metabolite supplementation rescue The EMBO journal High 30049710
2019 Seipin negatively regulates sphingolipid synthesis by associating with serine palmitoyltransferase (SPT) and fatty acid elongase at ER-LD contact sites. Cells lacking seipin show increased SPT and elongase activities and accumulation of sphingoid precursors. Human seipin rescues the altered sphingolipid phenotype in yeast seipin mutants. Yeast genetics; sphingolipid inhibitor sensitivity assays; SPT and elongase activity assays; Co-immunoprecipitation of seipin with SPT and elongase; cross-species complementation The Journal of cell biology High 31594806
2021 Molecular dynamics simulations and cell experiments show that seipin clusters triacylglycerol (TG) and diacylglycerol inside its ring-like oligomeric structure via interactions with both luminal and transmembrane regions. Mutations of polar residues involved in protein-TG interactions into hydrophobic residues abolish TG clustering. Molecular dynamics simulations; mutagenesis of TG-interacting residues; cell-based functional assays Proceedings of the National Academy of Sciences of the United States of America Medium 33674387
2021 Seipin traps TAGs via luminal hydrophobic helices (specifically Ser166 in the α3 helix), promoting nanoscale TAG sequestration that seeds the TAG cluster within the seipin ring. S166D mutation compromises seipin complexes' ability to sequester TAG in silico and to promote TAG transfer to LDs in cells. Promethin association with nascent seipin complexes is promoted by TAGs. Biomolecular simulations; cell-based TAG transfer assays; Ser166 mutagenesis; promethin co-localization experiments PLoS biology High 33481779
2022 Cryo-EM structure of S. cerevisiae seipin reveals a decameric cage-like structure; lumenal domains form a stable ring at the cage floor, transmembrane segments form cage sides and top interacting in two distinct alternating conformations controlled by switch regions between lumenal domains and TM segments. Switch regions are required for seipin function. Model: closed cage enables TG phase separation; open conformation allows LD growth and budding. Cryo-EM structure determination; structural modeling; cell-based functional assays of switch-region mutants Nature structural & molecular biology High 35210614
2021 Yeast Sei1 positions partner protein Ldb16, which concentrates TG within the Sei1 ring via critical hydroxyl residues. Sei1 TM segments promote TG recruitment and control Ldb16 stability. Sei1 luminal domain alone cannot concentrate TG, revealing sequential TG-concentrating steps via distinct elements. Cryo-EM; X-ray crystallography; biochemical assays; molecular dynamics simulations; mutagenesis of Ldb16 hydroxyl residues; yeast genetics Nature communications High 34625558
2022 Seipin TM segment residues and hydrophobic helix residues located in the phospholipid tail region attract TG. In growing LDs, TM segments form a constricted neck structure to facilitate conversion of a flat oil lens into a budding LD. Conserved positively charged residues at the end of TM segments affect LD maturation. All-atom and coarse-grained molecular dynamics simulations of human seipin; cell-based experiments with TM segment mutants; LD maturation assays eLife Medium 35583926
2022 Seipin concentrates neutral lipids (TAG, steryl esters, retinyl esters) via interactions between hydroxyl residues in human seipin (or yeast Ldb16) and the carboxyl ester groups of neutral lipid acyl chains, providing a universal mechanism for seipin-mediated LD formation applicable to diverse neutral lipid types. Biochemical neutral lipid binding assays; yeast genetics; cross-species complementation; mutagenesis of hydroxyl residues The Journal of cell biology Medium 35938957
2013 Seipin interacts with 14-3-3β through its N- and C-termini. During adipogenesis, 14-3-3β recruits cofilin-1 to the cytoplasm, driving actin cytoskeleton remodeling from stress fibers to cortical structures. Loss of seipin, 14-3-3β, or cofilin-1 blocks this remodeling and impairs adipocyte development. Co-immunoprecipitation; shRNA knockdown of seipin, 14-3-3β, and cofilin-1; fluorescence microscopy of actin structures; adipogenic differentiation assay; severing-resistant actin mutant expression Human molecular genetics Medium 24026679
2012 Seipin is an ER membrane adaptor for the adipogenic phosphatidic acid phosphatase lipin 1. Seipin inducibly binds lipin 1 during adipogenesis; its knockdown decreases membrane-associated lipin 1 and increases PA accumulation. A seipin mutant unable to bind lipin 1 fails to reduce PA levels during differentiation. Co-immunoprecipitation; PA detection in differentiating cells; seipin knockdown; mutagenesis of lipin-1-binding domain Molecular metabolism Medium 24024128
2011 Seipin interacts with itself and its mutant forms (self-oligomerization). N88S/S90L mutant seipin forms inclusions that trap wild-type seipin (dominant-negative effect). Knockdown of seipin increases oleate incorporation into TAG and causes proliferation and clustering of small LDs; overexpression reduces TAG synthesis and LD formation. Co-immunoprecipitation; radiolabeled fatty acid incorporation assay; fluorescence microscopy; siRNA knockdown; overexpression studies in mammalian cells Journal of lipid research Medium 21957196
2015 Absence of seipin leads to localized accumulation of phosphatidic acid (PA) at ER-lipid droplet junctions (PA puncta), detected by multiple independent probes. PA puncta appear only upon LD formation and are resistant to overexpression of PA-metabolizing enzymes, suggesting PA is trapped in a latent compartment. Suppression requires the N-terminal 14 amino acids of Sei1p acting together with Ldb16p. Yeast genetics; three independent PA probes (Opi1p, Spo20p51-91, Pah1p); LD induction system; domain deletion analysis; overexpression of PA metabolizing enzymes BMC cell biology Medium 26637296
2018 Yeast seipin cooperates with the membrane-shaping protein Pex30 for ER budding of both LDs and peroxisomes. In absence of seipin and Pex30, budding of both organelles is inhibited and their constituent molecules accumulate in the ER. COPII vesicle formation is unaffected. Remodeling ER phospholipid composition reverses the budding defect. Yeast genetics (double deletion); electron microscopy; fluorescence microscopy; lipidomics; phospholipid manipulation experiments Nature communications High 30054465
2022 A subset of seipin localizes at ER-mitochondria contact sites (MAMs) in human and mouse cells, in the vicinity of calcium regulators SERCA2, IP3R, and VDAC. Seipin association with MAM calcium regulators is stimulated by fasting-like stimuli. Acute seipin removal does not alter ER calcium stores but causes defective mitochondrial calcium import and widespread reduction in Krebs cycle metabolites and ATP. Subcellular fractionation; proximity ligation assay; acute seipin deletion; mitochondrial calcium measurement; metabolomics; inducible knockout mouse model Cell reports High 35021082
2019 Promethin/TMEM159 (LDAF1) is a seipin partner protein conserved from yeast to humans; promethin localizes to the LD surface and forms a complex with seipin, and its LD surface localization is modulated by seipin expression levels. Co-immunoprecipitation; fluorescence microscopy; seipin overexpression/knockdown effects on promethin localization Cells Medium 30901948
2013 Wild-type human seipin forms dodecameric circular oligomers by atomic force microscopy; L91P and A212P mutants fail to form this dodecameric structure. The R275X mutant is not expressed in pre-adipocytes; premature stop mutants fail to bind lipin 1, while point mutants T78A, L91P, and A212P retain this capacity. Atomic force microscopy; co-immunoprecipitation for lipin 1 binding; cell expression of multiple mutant constructs Diabetologia Medium 23989774
2011 Seipin deletion in mice causes severely disrupted lipid droplet dynamics and defective lipolysis in yeast; the ER structure is aberrant in fld1Δ cells, and lipid droplets remain abnormally associated with ER membranes. These data suggest seipin acts as a scaffolding protein required for dynamics of a specific ER subdomain. 4D live-cell imaging; quantitative microscopy; transmission electron microscopy; electron tomography in S. cerevisiae fld1Δ Journal of cell science Medium 22100922
2020 Seipin and GPAT3 associate via direct interaction, and seipin can simultaneously bind GPAT3 and AGPAT2. Loss of GPAT3 in seipin-deficient preadipocytes exacerbates the failure of adipogenesis, indicating GPAT3 plays a positive role in adipogenesis downstream of seipin. Co-immunoprecipitation; adipogenic differentiation assays with GPAT3/AGPAT2 knockdown; GPAT3 null mouse analysis Scientific reports Medium 32094408
2014 BSCL2 deletion specifically in brown progenitor cells causes premature activation of cAMP/PKA-mediated lipolysis and fatty acid oxidation during brown adipocyte differentiation. Prolonged cAMP/PKA overactivation causes apoptosis through inflammation, resulting in BAT atrophy. This defines a cell-autonomous role for BSCL2 in controlling BAT mass and activity. Brown adipocyte-specific Bscl2 knockout mouse; in vitro brown adipocyte differentiation; cAMP/PKA pathway analysis; adipocyte-specific progenitor cell deletion Molecular and cellular biology Medium 27185876
2012 Seipin knockdown in cortical neurons selectively reduces excitatory post-synaptic currents (EPSCs) and AMPA-induced whole-cell currents without affecting IPSCs, by reducing surface AMPA receptor levels through a post-synaptic mechanism. Expression of shRNA-resistant human seipin rescues these defects. shRNA knockdown in cultured cortical neurons; electrophysiology (EPSCs, IPSCs, miniature currents, whole-cell AMPA currents); surface AMPA receptor biochemistry; rescue with human seipin Journal of neurochemistry Medium 23173741
2014 N88S seipin mutation impairs synaptic neurotransmission by reducing the readily releasable pool of synaptic vesicles and vesicular release probability, and decreasing morphologically docked synaptic vesicles by electron microscopy. Neither GABA nor AMPA-induced whole-cell currents are directly affected by the mutant, indicating a pre-synaptic vesicle docking/priming defect. Lentiviral overexpression of N88S mutant seipin in cortical neurons; electrophysiology (mEPSCs, mIPSCs, evoked EPSCs/IPSCs, RRP assay); electron microscopy of synaptic vesicles Journal of neurochemistry Medium 24345054
2011 N88S seipin transgenic mice (expressed via Thy-1 promoter) develop progressive spastic motor deficits, reactive gliosis, and neurogenic muscular atrophy, recapitulating seipinopathy. Mutant seipin expression upregulates ER stress markers (BiP, PDI, XBP1) without significant neuronal loss, demonstrating that ER stress is sufficient for motor phenotype development. Transgenic mouse model; behavioral tests; histopathology; ER stress marker quantification Human molecular genetics Medium 21750110
2008 The transmembrane domains of seipin are critical for ER retention, ubiquitination, formation of inclusion bodies, and activation of the unfolded protein response (UPR). Seipin protein is detected by immunohistochemistry in neurons of the spinal cord and frontal cortex. Deletion/mutation constructs of transmembrane domains; immunofluorescence; ubiquitination assay; UPR activation assay; immunohistochemistry in human brain tissue Neurobiology of disease Medium 18585921
2019 BSCL2 deficiency in Bscl2−/− mouse hearts increases ATGL protein stability and expression, causing drastic reduction of glycerolipids and excessive fatty acid oxidation. Pharmacological or genetic inhibition of ATGL rescues adipocyte differentiation and lipodystrophy in Bscl2−/− cells and mice, identifying ATGL as a downstream effector of BSCL2. Bscl2−/− mouse model; cardiac lipidomics; ATGL protein stability assays; pharmacological ATGL inhibition; ATGL genetic inactivation (double KO); adipocyte differentiation rescue assays JCI insight High 31185001
2016 SEIPIN expression is increased during brown adipocyte differentiation; its deletion does not impair the brown adipogenic program per se but induces premature activation via cAMP/PKA-mediated lipolysis and uncoupling, causing BAT atrophy through apoptosis. Brown adipocyte-specific Bscl2 deletion using brown progenitor-specific Cre; in vitro differentiation; cAMP/PKA pathway assays; UCP1 and thermogenesis measurements Molecular and cellular biology Medium 27185876
2021 Seipin is absent from the inner nuclear membrane (INM), and seipin knockdown increases nuclear lipid droplets and PA in the nucleus while upregulating lipin-1β expression; seipin overexpression decreases nuclear LDs. Lipin-1 knockdown decreases the effect of seipin knockdown on nuclear LDs. These results indicate seipin restrains nuclear LD formation indirectly by affecting lipin-1 expression and intracellular PA distribution, rather than directly participating in nuclear LD formation. Seipin knockdown and overexpression; PA detection; nuclear LD quantification; lipin-1 knockdown epistasis in U2OS cells The Journal of cell biology Medium 33315072
2016 Loss of seipin in hepatocytes increases LD number and size, and induces SCD1 expression and activity. Knockdown of SCD1 reverses the LD expansion phenotype associated with seipin deficiency; BSCL2 knockdown also increases basal phosphorylation of insulin signaling proteins and fatty acid uptake. BSCL2 siRNA in primary hepatocytes and HepG2 cells; SCD1 activity assay; SCD1 knockdown rescue; lipid accumulation quantification Lipids Medium 27838812
2013 Seipin differentially regulates lipogenesis and adipogenesis through two distinct domains: a conserved core sequence mediates suppression of LD formation in non-adipocytes; an evolutionarily acquired C-terminus is required for adipocyte development. Seipin overexpression inhibits oleate-induced LD formation via the core sequence; a C-terminally truncated seipin mutant fails to rescue adipogenic defects. Domain deletion constructs; seipin overexpression and knockdown in 3T3-L1 and non-adipocytes; LD formation assay; adipogenic differentiation assay The Biochemical journal Medium 23458123
2014 BSCL2/Seipin interacts with ADRP (adipose differentiation-related protein) by co-immunoprecipitation and defines the punctate cytoplasmic localization of ADRP in adipocytes; forced expression of wild-type BSCL2 in BSCL2-iPS cells restores both lipid accumulation and ADRP localization. Co-immunoprecipitation in iPS-derived adipocytes; ADRP localization by fluorescence microscopy; rescue by stable BSCL2 expression in patient-derived iPS cells Metabolism: clinical and experimental Low 26975546

Source papers

Stage 0 corpus · 100 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2007 The lipodystrophy protein seipin is found at endoplasmic reticulum lipid droplet junctions and is important for droplet morphology. Proceedings of the National Academy of Sciences of the United States of America 509 18093937
2008 Fld1p, a functional homologue of human seipin, regulates the size of lipid droplets in yeast. The Journal of cell biology 406 18250201
2016 Seipin is required for converting nascent to mature lipid droplets. eLife 320 27564575
2004 Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. Nature genetics 305 14981520
2016 Seipin regulates ER-lipid droplet contacts and cargo delivery. The EMBO journal 256 27879284
2019 LDAF1 and Seipin Form a Lipid Droplet Assembly Complex. Developmental cell 181 31708432
2018 Human SEIPIN Binds Anionic Phospholipids. Developmental cell 169 30293840
2019 Seipin Facilitates Triglyceride Flow to Lipid Droplet and Counteracts Droplet Ripening via Endoplasmic Reticulum Contact. Developmental cell 168 31178403
2008 The human lipodystrophy gene BSCL2/seipin may be essential for normal adipocyte differentiation. Diabetes 167 18458148
2015 The seipin complex Fld1/Ldb16 stabilizes ER-lipid droplet contact sites. The Journal of cell biology 160 26572621
2011 Seipin ablation in mice results in severe generalized lipodystrophy. Human molecular genetics 150 21551454
2018 Cryo-electron microscopy structure of the lipid droplet-formation protein seipin. The Journal of cell biology 143 30327422
2012 Berardinelli-seip congenital lipodystrophy 2/seipin is a cell-autonomous regulator of lipolysis essential for adipocyte differentiation. Molecular and cellular biology 141 22269949
2016 SEIPIN Regulates Lipid Droplet Expansion and Adipocyte Development by Modulating the Activity of Glycerol-3-phosphate Acyltransferase. Cell reports 138 27806294
2014 Seipin promotes adipose tissue fat storage through the ER Ca²⁺-ATPase SERCA. Cell metabolism 138 24807223
2018 Seipin and the membrane-shaping protein Pex30 cooperate in organelle budding from the endoplasmic reticulum. Nature communications 123 30054465
2009 The human lipodystrophy gene product Berardinelli-Seip congenital lipodystrophy 2/seipin plays a key role in adipocyte differentiation. Endocrinology 113 19574402
2011 A role for seipin in lipid droplet dynamics and inheritance in yeast. Journal of cell science 110 22100922
2009 Seipin deficiency alters fatty acid Delta9 desaturation and lipid droplet formation in Berardinelli-Seip congenital lipodystrophy. Biochimie 108 19278620
2017 Identification of seipin-linked factors that act as determinants of a lipid droplet subpopulation. The Journal of cell biology 106 29187527
2012 Seipin: from human disease to molecular mechanism. Journal of lipid research 106 22474068
2010 Seipin is a discrete homooligomer. Biochemistry 105 21062080
2006 Membrane topology of the human seipin protein. FEBS letters 104 16574104
2014 Adipose-specific knockout of SEIPIN/BSCL2 results in progressive lipodystrophy. Diabetes 93 24622797
2011 Seipin, adipogenesis and lipid droplets. Trends in endocrinology and metabolism: TEM 89 21497513
2022 Seipin forms a flexible cage at lipid droplet formation sites. Nature structural & molecular biology 87 35210614
2021 Seipin accumulates and traps diacylglycerols and triglycerides in its ring-like structure. Proceedings of the National Academy of Sciences of the United States of America 85 33674387
2004 The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V. Brain : a journal of neurology 81 15242882
2007 Molecular pathogenesis of seipin/BSCL2-related motor neuron diseases. Annals of neurology 80 17387721
2011 Molecular characterization of seipin and its mutants: implications for seipin in triacylglycerol synthesis. Journal of lipid research 75 21957196
2021 Seipin traps triacylglycerols to facilitate their nanoscale clustering in the endoplasmic reticulum membrane. PLoS biology 73 33481779
2015 Seipin oligomers can interact directly with AGPAT2 and lipin 1, physically scaffolding critical regulators of adipogenesis. Molecular metabolism 73 25737955
2018 Seipin regulates lipid homeostasis by ensuring calcium-dependent mitochondrial metabolism. The EMBO journal 72 30049710
2021 Nuclear lipid droplets form in the inner nuclear membrane in a seipin-independent manner. The Journal of cell biology 71 33315072
2008 Characterization of seipin/BSCL2, a protein associated with spastic paraplegia 17. Neurobiology of disease 67 18585921
2012 The human lipodystrophy protein seipin is an ER membrane adaptor for the adipogenic PA phosphatase lipin 1. Molecular metabolism 66 24024128
2021 Mechanism of lipid droplet formation by the yeast Sei1/Ldb16 Seipin complex. Nature communications 65 34625558
2017 SEIPIN Proteins Mediate Lipid Droplet Biogenesis to Promote Pollen Transmission and Reduce Seed Dormancy. Plant physiology 61 29203558
2013 BSCL2/seipin regulates adipogenesis through actin cytoskeleton remodelling. Human molecular genetics 61 24026679
2019 Promethin Is a Conserved Seipin Partner Protein. Cells 59 30901948
2022 Seipin localizes at endoplasmic-reticulum-mitochondria contact sites to control mitochondrial calcium import and metabolism in adipocytes. Cell reports 58 35021082
2013 A new seipin-associated neurodegenerative syndrome. Journal of medical genetics 57 23564749
2015 Dissecting seipin function: the localized accumulation of phosphatidic acid at ER/LD junctions in the absence of seipin is suppressed by Sei1p(ΔNterm) only in combination with Ldb16p. BMC cell biology 55 26637296
2019 Dietary fatty acids promote lipid droplet diversity through seipin enrichment in an ER subdomain. Nature communications 54 31263173
2022 Seipin transmembrane segments critically function in triglyceride nucleation and lipid droplet budding from the membrane. eLife 50 35583926
2011 N88S seipin mutant transgenic mice develop features of seipinopathy/BSCL2-related motor neuron disease via endoplasmic reticulum stress. Human molecular genetics 50 21750110
2004 Mutations in Gng3lg and AGPAT2 in Berardinelli-Seip congenital lipodystrophy and Brunzell syndrome: phenotype variability suggests important modifier effects. The Journal of clinical endocrinology and metabolism 50 15181077
2020 SEIPIN Isoforms Interact with the Membrane-Tethering Protein VAP27-1 for Lipid Droplet Formation. The Plant cell 47 32690719
2014 Lack of seipin in neurons results in anxiety- and depression-like behaviors via down regulation of PPARγ. Human molecular genetics 46 24651066
2021 Seipin: harvesting fat and keeping adipocytes healthy. Trends in cell biology 43 34215489
2016 Neuronal seipin knockout facilitates Aβ-induced neuroinflammation and neurotoxicity via reduction of PPARγ in hippocampus of mouse. Journal of neuroinflammation 43 27287266
2012 Comparison of brown and white adipose tissue fat fractions in ob, seipin, and Fsp27 gene knockout mice by chemical shift-selective imaging and (1)H-MR spectroscopy. American journal of physiology. Endocrinology and metabolism 41 23149622
2004 Gene and phenotype analysis of congenital generalized lipodystrophy in Japanese: a novel homozygous nonsense mutation in seipin gene. The Journal of clinical endocrinology and metabolism 41 15126564
2015 Seipin is necessary for normal brain development and spermatogenesis in addition to adipogenesis. Human molecular genetics 40 25934999
2016 Activation of PPARγ Ameliorates Spatial Cognitive Deficits through Restoring Expression of AMPA Receptors in Seipin Knock-Out Mice. The Journal of neuroscience : the official journal of the Society for Neuroscience 38 26818512
2013 Seipin differentially regulates lipogenesis and adipogenesis through a conserved core sequence and an evolutionarily acquired C-terminus. The Biochemical journal 37 23458123
2013 Analysis of naturally occurring mutations in the human lipodystrophy protein seipin reveals multiple potential pathogenic mechanisms. Diabetologia 36 23989774
2009 Novel mutations of the BSCL2 and AGPAT2 genes in 10 families with Berardinelli-Seip congenital generalized lipodystrophy syndrome. Clinical endocrinology 36 19226263
2018 Adipose specific disruption of seipin causes early-onset generalised lipodystrophy and altered fuel utilisation without severe metabolic disease. Molecular metabolism 35 29459250
2012 Overexpression of a short human seipin/BSCL2 isoform in mouse adipose tissue results in mild lipodystrophy. American journal of physiology. Endocrinology and metabolism 34 22234369
2014 Molecular mechanisms underlying fasting modulated liver insulin sensitivity and metabolism in male lipodystrophic Bscl2/Seipin-deficient mice. Endocrinology 33 25093462
2019 Targeting ATGL to rescue BSCL2 lipodystrophy and its associated cardiomyopathy. JCI insight 32 31185001
2004 Mutations in the seipin and AGPAT2 genes clustering in consanguineous families with Berardinelli-Seip congenital lipodystrophy from two separate geographical regions of Brazil. The Journal of clinical endocrinology and metabolism 31 14715872
2022 Seipin concentrates distinct neutral lipids via interactions with their acyl chain carboxyl esters. The Journal of cell biology 30 35938957
2018 Seipin deficiency in mice causes loss of dopaminergic neurons via aggregation and phosphorylation of α-synuclein and neuroinflammation. Cell death & disease 30 29670081
2021 Retinyl esters form lipid droplets independently of triacylglycerol and seipin. The Journal of cell biology 29 34323918
2019 Seipin negatively regulates sphingolipid production at the ER-LD contact site. The Journal of cell biology 27 31594806
2020 Loss of the seipin gene perturbs eggshell formation in Caenorhabditiselegans. Development (Cambridge, England) 26 32820022
2007 Identification of de novo BSCL2 Ser90Leu mutation in a Korean family with Silver syndrome and distal hereditary motor neuropathy. Muscle & nerve 26 17486577
2013 Function of seipin: new insights from Bscl2/seipin knockout mouse models. Biochimie 25 23831461
1998 Structure and mapping of the G protein gamma3 subunit gene and a divergently transcribed novel gene, gng3lg. Genomics 25 9790771
2020 Oligomers of the lipodystrophy protein seipin may co-ordinate GPAT3 and AGPAT2 enzymes to facilitate adipocyte differentiation. Scientific reports 24 32094408
2015 Seipin deficiency increases chromocenter fragmentation and disrupts acrosome formation leading to male infertility. Cell death & disease 24 26181198
2016 Impaired adipogenic capacity in induced pluripotent stem cells from lipodystrophic patients with BSCL2 mutations. Metabolism: clinical and experimental 23 26975546
2014 Towards a mechanistic understanding of lipodystrophy and seipin functions. Bioscience reports 23 25195639
2011 Characterization of inclusion bodies with cytoprotective properties formed by seipinopathy-linked mutant seipin. Human molecular genetics 23 22045697
2020 New friends for seipin - Implications of seipin partner proteins in the life cycle of lipid droplets. Seminars in cell & developmental biology 22 32402516
2018 Adipose tissue transplantation ameliorates lipodystrophy-associated metabolic disorders in seipin-deficient mice. American journal of physiology. Endocrinology and metabolism 22 30457912
2016 Hepatic BSCL2 (Seipin) Deficiency Disrupts Lipid Droplet Homeostasis and Increases Lipid Metabolism via SCD1 Activity. Lipids 22 27838812
2012 Clinical and histopathological study of Charcot-Marie-Tooth neuropathy with a novel S90W mutation in BSCL2. Neurogenetics 22 23142943
2012 Seipin regulates excitatory synaptic transmission in cortical neurons. Journal of neurochemistry 22 23173741
2022 Seipin collaborates with the ER membrane to control the sites of lipid droplet formation. Current opinion in cell biology 21 35306312
2018 Renal injury in Seipin-deficient lipodystrophic mice and its reversal by adipose tissue transplantation or leptin administration alone: adipose tissue-kidney crosstalk. FASEB journal : official publication of the Federation of American Societies for Experimental Biology 21 29738274
2015 Expression of seipin in adipose tissue rescues lipodystrophy, hepatic steatosis and insulin resistance in seipin null mice. Biochemical and biophysical research communications 21 25757906
2015 Seipin knockout in mice impairs stem cell proliferation and progenitor cell differentiation in the adult hippocampal dentate gyrus via reduced levels of PPARγ. Disease models & mechanisms 21 26398946
2012 Neuroanatomical characterisation of the expression of the lipodystrophy and motor-neuropathy gene Bscl2 in adult mouse brain. PloS one 21 23049863
2020 SEIPIN: A Key Factor for Nuclear Lipid Droplet Generation and Lipid Homeostasis. International journal of molecular sciences 20 33147895
2019 Seipin deletion in mice enhances phosphorylation and aggregation of tau protein through reduced neuronal PPARγ and insulin resistance. Neurobiology of disease 20 30910747
2018 Dyslipidemia, steatohepatitis and atherogenesis in lipodystrophic apoE deficient mice with Seipin deletion. Gene 20 29428127
2016 FGF21 Improves the Adipocyte Dysfunction Related to Seipin Deficiency. Diabetes 20 27554469
2022 Role of Seipin in Human Diseases and Experimental Animal Models. Biomolecules 19 35740965
2020 miR‑187‑3p inhibitor attenuates cerebral ischemia/reperfusion injury by regulating Seipin‑mediated autophagic flux. International journal of molecular medicine 19 32705147
2016 Clinical and Molecular Characterization of BSCL2 Mutations in a Taiwanese Cohort with Hereditary Neuropathy. PloS one 19 26815532
2016 Berardinelli-Seip Congenital Lipodystrophy 2/Seipin Is Not Required for Brown Adipogenesis but Regulates Brown Adipose Tissue Development and Function. Molecular and cellular biology 19 27185876
2013 Deletion mutation in BSCL2 gene underlies congenital generalized lipodystrophy in a Pakistani family. Diagnostic pathology 19 23659685
2024 A unifying mechanism for seipin-mediated lipid droplet formation. FEBS letters 18 38785192
2018 Exploring Seipin: From Biochemistry to Bioinformatics Predictions. International journal of cell biology 18 30402103
2013 Altered lipid metabolism in residual white adipose tissues of Bscl2 deficient mice. PloS one 18 24358199
2016 Seipin deficiency alters brown adipose tissue thermogenesis and insulin sensitivity in a non-cell autonomous mode. Scientific reports 17 27748422
2014 Motor neuropathy-associated mutation impairs Seipin functions in neurotransmission. Journal of neurochemistry 17 24345054

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