Affinage

ALMS1

Centrosome-associated protein ALMS1 · UniProt Q8TCU4

Length
4168 aa
Mass
461.1 kDa
Annotated
2026-04-28
91 papers in source corpus 21 papers cited in narrative 21 extracted findings

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

ALMS1 is a large, intrinsically disordered centrosomal and basal-body protein that functions at the nexus of centriole biogenesis, centriole cohesion, primary cilium maintenance, and intracellular trafficking, with its loss causing the multisystem disorder Alström syndrome. At the proximal ends of centrioles, ALMS1 acts as an external cofactor for cartwheel assembly by enabling formation of CEP152–CEP63–PCNT cartwheel seeds and amplification of the Plk4–Ana2 pool required for Sas-6 recruitment, while also maintaining centriole cohesion through support of centrosomal C-Nap1 levels (PMID:20844083, PMID:40021845). ALMS1 is required for proper cilium length, morphology, and cilium-dependent signaling—including TGF-β/SMAD and planar cell polarity pathways—and interacts with α-actinin, myosin Vb, and CEP70 to support recycling endosome function and ciliary protein localization (PMID:22693585, PMID:38122899, PMID:33598462, PMID:21071598). Cell-autonomous roles in adipocyte differentiation, pancreatic β-cell insulin secretion, and cardiomyocyte calcium handling underlie the obesity, diabetes, and cardiomyopathy of Alström syndrome (PMID:20514046, PMID:31220269, PMID:39243575, PMID:38583571).

Mechanistic history

Synthesis pass · year-by-year structured walk · 14 steps
  1. 2005 High

    Establishing where ALMS1 resides resolved whether it is a ciliary structural component or a centrosomal regulator: localization to centrosomes and basal bodies—with morphologically normal cilia persisting in ALMS1-disrupted cells—indicated a regulatory rather than structural ciliary role.

    Evidence Immunofluorescence in primary fibroblasts and ALMS1-disrupted patient cells; electron microscopy in Alms1 KO mouse photoreceptors showing rhodopsin mislocalization and vesicle accumulation

    PMID:15855349 PMID:16000322

    Open questions at the time
    • Whether ALMS1 has direct enzymatic activity remained unknown
    • Mechanism by which ALMS1 influences intracellular trafficking was unresolved
  2. 2006 High

    Demonstrating that ALMS1 knockdown causes stunted cilia and loss of mechanosensory calcium signaling—rescued by an ALMS1 cDNA fragment—established that ALMS1 actively maintains cilium length and cilium-dependent signaling rather than merely marking the basal body.

    Evidence siRNA knockdown in kidney epithelial cells with cilium length measurement, calcium imaging, and cDNA rescue; in vivo cilia loss in aged Alms1 mutant mice

    PMID:17206865

    Open questions at the time
    • Which ALMS1 domain mediates cilium maintenance was not mapped
    • Whether cilia shortening is secondary to trafficking defects was unclear
  3. 2010 High

    Precise sub-centriolar localization of ALMS1 to the proximal ends of centrioles, its colocalization with C-Nap1, and the loss of centriole cohesion upon ALMS1 depletion revealed a specific structural role in linking parental centrioles—mechanistically distinct from its ciliary function.

    Evidence RNAi knockdown with measurement of C-Nap1 levels and centriole cohesion; domain deletion analysis; immunofluorescence

    PMID:20844083

    Open questions at the time
    • Whether ALMS1 directly binds C-Nap1 or acts indirectly was not determined
    • Relationship between cohesion loss and disease phenotypes was unexplored
  4. 2010 High

    Cochlear hair cell defects in Alms1-disrupted mice (stereociliary bundle misorientation) implicated ALMS1 in planar cell polarity signaling, expanding its functional scope from cilia maintenance to tissue-level morphogenetic signaling, while adipogenesis defects upon stable knockdown demonstrated a cell-autonomous metabolic role.

    Evidence Histological and functional analysis of Alms1-disrupted mouse cochlea; stable shRNA knockdown in 3T3-L1 preadipocytes with lipid and gene expression readouts

    PMID:20514046 PMID:21071598

    Open questions at the time
    • PCP pathway components downstream of ALMS1 were not identified
    • Whether adipogenesis defect is cilium-dependent remained unclear
  5. 2012 High

    Identification of α-actinin and endosomal recycling proteins (myosin Vb, Rab11-FIP) as ALMS1 interactors, together with impaired transferrin recycling in ALMS1-deficient fibroblasts, established a direct link between ALMS1 and the recycling endosome pathway, providing a unifying mechanism for trafficking-dependent phenotypes.

    Evidence Yeast two-hybrid screen; transferrin uptake/clearance assay in patient fibroblasts

    PMID:22693585

    Open questions at the time
    • Whether ALMS1 localizes to recycling endosomes or acts from the centrosome was unresolved
    • Stoichiometry and directness of α-actinin interaction not validated by orthogonal methods
  6. 2012 High

    Loss of cilia on hypothalamic neurons bearing appetite-regulating receptors (Mchr1, Sstr3) in Alms1 mutant mice connected ALMS1's cilium-maintenance role to neuronal satiety signaling, offering a cellular mechanism for the hyperphagia and obesity of Alström syndrome.

    Evidence Quantitative immunofluorescence of neuronal cilia markers in foz/foz mouse hypothalamus

    PMID:22581473

    Open questions at the time
    • Whether cilia loss is cell-autonomous in hypothalamic neurons was not tested
    • Temporal relationship between cilia loss and onset of hyperphagia was not resolved
  7. 2019 High

    Zebrafish alms1 knockout causing hyperinsulinemia and β-cell transcriptomic changes consistent with insulin hypersecretion revealed that ALMS1 regulates β-cell glucose sensing, establishing hyperinsulinemia as a primary event rather than a compensatory response in Alström-associated diabetes.

    Evidence CRISPR/Cas9 alms1 KO zebrafish; β-cell RNA-seq; glucose tolerance and insulin assays; corroboration in murine β-cell Alms1 KD

    PMID:31220269

    Open questions at the time
    • Whether the β-cell defect is cilium-dependent was not determined
    • Specific signaling pathway connecting ALMS1 to insulin secretion machinery was not identified
  8. 2021 Medium

    Observation that ALMS1 depletion produces elongated, morphologically abnormal cilia (not just stunted cilia) and reduces TGF-β/SMAD2/3 signaling linked ALMS1 to active regulation of both cilium morphology and a specific cilium-dependent signaling pathway.

    Evidence siRNA knockdown in hTERT-RPE1 cells; cilia length/morphology by immunofluorescence; SMAD2/3 phosphorylation by western blot; drug-mediated ALMS1 restoration in patient fibroblasts correcting SSTR3 and IFT88

    PMID:33598462 PMID:34365092

    Open questions at the time
    • Discrepancy between shortened versus elongated cilia across different cell types not mechanistically explained
    • Direct versus indirect effect on SMAD signaling not distinguished
  9. 2023 High

    Identification of CEP70 as a stable ALMS1 interactor via endogenous tagging AP-MS, with mutual dependency for basal body localization, provided the first validated centrosomal binding partner and suggested ALMS1 is embedded in a basal body protein network rather than acting alone.

    Evidence CRISPR endogenous tagging; AP-MS; reciprocal siRNA knockdown in hTERT-RPE1 cells; domain mapping

    PMID:38122899

    Open questions at the time
    • Functional consequence of disrupting the ALMS1–CEP70 interaction specifically (vs. total ALMS1 loss) was not tested
    • Whether CEP70 interaction is relevant to centriole cohesion or ciliogenesis was not resolved
  10. 2024 High

    Mesenchymal-lineage-specific Alms1 KO recapitulating insulin resistance, fatty liver, and dyslipidemia demonstrated that ALMS1's metabolic functions are cell-autonomous to the adipose/mesenchymal compartment and sufficient to drive systemic metabolic syndrome.

    Evidence Conditional (Pdgfrα-Cre) Alms1 KO mice with comprehensive metabolic phenotyping

    PMID:38583571

    Open questions at the time
    • Whether cilium-dependent signaling in mesenchymal cells mediates the metabolic phenotype was not established
    • Contribution of oligodendrocyte precursor cells to hyperphagia requires further dissection
  11. 2024 Medium

    ALMS1 KO iPSC-derived cardiomyocytes displaying increased contractility, impaired calcium handling, and increased senescence revealed a cardiomyocyte-intrinsic ALMS1 role, connecting the centrosomal/ciliary protein to excitation-contraction coupling and cellular aging in the heart.

    Evidence CRISPR KO iPSC-cardiomyocytes; calcium optical mapping; Seahorse metabolic assay; senescence staining

    PMID:39243575

    Open questions at the time
    • No rescue experiment performed
    • Mechanism linking ALMS1 to calcium extrusion machinery not identified
    • Whether cardiomyocyte phenotype is cilium-dependent is unknown
  12. 2025 High

    Ultrastructural and epistasis analysis in Drosophila established that ALMS1 orthologs are essential for centriole duplication, acting upstream of Sas-6 cartwheel assembly by enabling Plk4–Ana2 amplification at the duplication site—the most proximal function assigned to ALMS1 in centriole biogenesis.

    Evidence RNA null alleles and RNAi in Drosophila; U-ExM ultrastructure; epistasis with Plk4, Ana2, Sas-6

    PMID:40021845

    Open questions at the time
    • Conservation of the Plk4–Ana2 amplification mechanism in human ALMS1 not directly shown
    • Whether centriole duplication failure underlies any Alström syndrome tissue pathology is unknown
  13. 2025 Medium

    Human ALMS1 was shown to function as an intrinsically disordered external cofactor that enables CEP152–CEP63–PCNT cartwheel seed assembly and constrains cartwheel dynamics; disease mutations cause cartwheel expansion/shedding and centriole amplification, directly linking Alström mutations to centriole biogenesis defects.

    Evidence CRISPR depletion and re-expression; disease mutation introduction; super-resolution microscopy; Co-IP identifying CEP152, CEP63, PCNT (preprint)

    PMID:40667363

    Open questions at the time
    • Preprint, not yet peer-reviewed
    • Structural basis for how an intrinsically disordered protein constrains cartwheel geometry unknown
    • Whether cartwheel expansion phenotype occurs in patient tissues not tested
  14. 2025 Medium

    Phosphoproteomic analysis placed CDC42 as a central signaling node downstream of ALMS1 loss, connecting ALMS1 to endocytosis and TGF-β signaling through a defined kinase-substrate network rather than general ciliary dysfunction.

    Evidence CRISPR KO in hTERT-RPE1 cells; phosphoproteomics; network diffusion analysis

    PMID:41193622

    Open questions at the time
    • CDC42 identified computationally; direct ALMS1–CDC42 physical or functional interaction not validated
    • Whether CDC42 mediates ALMS1-dependent PCP signaling in vivo is untested

Open questions

Synthesis pass · forward-looking unresolved questions
  • The mechanistic relationship between ALMS1's centriole biogenesis function, its endosomal recycling role, and its cilium maintenance activity remains unintegrated: whether these represent a single pathway (e.g., trafficking-dependent delivery of centriole/ciliary components) or parallel functions of distinct ALMS1 domains is the central open question.
  • No domain-resolution structure of ALMS1 exists
  • Separation-of-function alleles distinguishing centriole vs. cilium vs. trafficking roles have not been generated
  • Whether centriole amplification from disease mutations contributes to patient phenotypes is untested

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0008092 cytoskeletal protein binding 5 GO:0060090 molecular adaptor activity 3
Localization
GO:0005815 microtubule organizing center 7 GO:0005929 cilium 6 GO:0031410 cytoplasmic vesicle 2
Pathway
R-HSA-1852241 Organelle biogenesis and maintenance 7 R-HSA-162582 Signal Transduction 4 R-HSA-1640170 Cell Cycle 4 R-HSA-1266738 Developmental Biology 2 R-HSA-5653656 Vesicle-mediated transport 2
Partners
ACTN1C-NAP1CEP152CEP63CEP70MYO5BPCNT

Evidence

Reading pass · 21 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2005 ALMS1 protein localizes to centrosomes and to the base of cilia (basal bodies) in multiple cell types; fibroblasts with disrupted ALMS1 assemble morphologically normal primary cilia and microtubule cytoskeletons, suggesting the Alström syndrome phenotype results from impaired ciliary function rather than failure of ciliogenesis. Immunofluorescence localization in primary fibroblasts; analysis of ALMS1-disrupted fibroblasts Diabetes High 15855349
2005 Loss of ALMS1 in mice leads to mislocalization of rhodopsin to the outer nuclear layer and accumulation of intracellular vesicles in photoreceptor inner segments, implicating ALMS1 in intracellular trafficking. Immunohistochemistry and electron microscopy in Alms1 gene-trap knockout mice Human molecular genetics High 16000322
2006 In vitro knockdown of Alms1 in mouse kidney epithelial cells causes stunted primary cilia and prevents calcium influx in response to mechanical stimuli; a 5' fragment of Alms1 cDNA rescues the stunted-cilium phenotype, and aged Alms1 mutant mice show age-dependent loss of cilia from kidney proximal tubules associated with apoptosis/proliferation foci. siRNA knockdown in kidney epithelial cells; cilium length measurement; calcium imaging; rescue with cDNA fragment; in vivo analysis of Alms1 mutant mice PLoS genetics High 17206865
2010 ALMS1 localizes specifically to the proximal ends of centrioles and basal bodies, colocalizing with the centrosome cohesion protein C-Nap1; RNAi depletion of ALMS1 markedly reduces centrosomal C-Nap1 levels and compromises cohesion of parental centrioles, revealing a role for ALMS1 in centriole cohesion. Immunofluorescence localization; RNAi knockdown with measurement of C-Nap1 levels and centriole cohesion; deletion analysis of ALMS1 domains Molecular biology of the cell High 20844083
2010 ALMS1 localizes to the basal bodies of cochlear hair cells and supporting cells; Alms1-disrupted mice display defects in stereociliary bundle shape and orientation, implicating ALMS1 in planar cell polarity (PCP) signaling in the cochlea. Immunofluorescence in neonatal rat organ of Corti; histological and functional analysis of Alms1-disrupted mice (DPOAE, endocochlear potential measurements) Human molecular genetics High 21071598
2010 ALMS1 transcription is regulated by RFX family transcription factors binding to an evolutionarily conserved X-box in the proximal promoter, and by Sp1; RFX proteins are responsible for ALMS1 transcription during growth arrest induced by low serum conditions. 5' RACE; luciferase reporter assay; EMSA; chromatin immunoprecipitation (ChIP); RNA interference Gene High 20381594
2011 ALMS1-deficient patient fibroblasts display cytoskeletal abnormalities, impaired migration, upregulated collagen production, cell cycle delay (increased cycle length), and resistance to apoptosis, constitutively adopting a myofibroblast phenotype; genome-wide expression analysis reveals alterations in cell cycle, ECM/fibrosis, cellular architecture/motility, and apoptosis gene categories. Genome-wide gene expression analysis; ultrastructural characterization; functional assays (migration, apoptosis, cell cycle) in ALMS1 patient-derived dermal fibroblasts PloS one High 21541333
2012 The carboxy-terminal region of murine ALMS1 interacts with α-actinin isoforms (the predominant interactors, 19/32 hits) and with myosin Vb, Rad50-interacting protein 1, and huntingtin-associated protein 1A — proteins previously linked to endosome recycling and centrosome function — as identified by yeast two-hybrid screening; ALMS1-deficient human fibroblasts show reduced transferrin uptake and impaired transferrin clearance, demonstrating a role in the recycling endosome pathway. Yeast two-hybrid screen in mouse tissue libraries; transferrin uptake/clearance assay in ALMS1-deficient patient fibroblasts; immunofluorescence with N- and C-terminal ALMS1 antibodies in dividing MDCK cells PloS one High 22693585
2012 A truncating mutation of Alms1 in obese (foz/foz) mice leads to a ~70% reduction in hypothalamic neurons bearing AC3-positive cilia postnatally, concomitant with loss of Alms1 from the base of hypothalamic neuronal cilia; cilia bearing appetite-regulating receptors Mchr1 and Sstr3 are similarly reduced, implying ALMS1 maintains neuronal cilia stability and thereby regulates weight-related signaling. Immunofluorescence in foz/foz mouse hypothalamus; quantification of AC3-, Mchr1-, Sstr3-, and Arl13b-positive cilia in vivo Developmental neurobiology High 22581473
2010 Stable knockdown of Alms1 (>80%) in 3T3-L1 preadipocytes impairs lipid accumulation and reduces adipocyte gene expression ≥2-fold following hormonal induction of adipogenesis, demonstrating a cell-autonomous role for ALMS1 in adipocyte differentiation; insulin-stimulated glucose uptake is proportionally reduced but proximal insulin signaling is unaffected. Stable shRNA knockdown in 3T3-L1 cells; lipid staining; adipocyte gene expression; insulin-stimulated glucose uptake assay International journal of obesity High 20514046
2021 ALMS1 depletion in hTERT-RPE1 cells results in the formation of longer cilia with abnormal axonemal morphology (twisting and bending), and reduces TGFβ-1-mediated activation of SMAD2/3, demonstrating that ALMS1 regulates both cilia morphology and TGF-β/BMP signaling. siRNA knockdown in hTERT-RPE1 cells; immunofluorescence measurement of cilia length/morphology; SMAD2/3 phosphorylation assay by western blot Frontiers in cell and developmental biology Medium 33598462
2022 ALMS1 depletion (CRISPR KO) in HeLa and hTERT-BJ-5ta cells causes G2/M cell cycle arrest, resistance to apoptosis induced by thapsigargin and C2-ceramide, reduced SMAD3 (but not SMAD2) phosphorylation in BJ-5ta cells, inhibition of TGF-β downstream pathways, and reduced cell migration capacity in both cell lines. CRISPR/Cas9 KO; flow cytometry cell cycle analysis; apoptosis assays; SMAD2/3 phosphorylation western blot; proteomics; qPCR; wound-healing/migration assay Frontiers in molecular biosciences Medium 36325276
2023 Affinity-based protein complex analysis of endogenously CRISPR-tagged ALMS1 identifies centrosomal protein CEP70 as a novel ALMS1 interactor; the TPR-containing C-terminal domain of CEP70 mediates this interaction; loss of ALMS1 leads to shortened cilia without changes in structural protein localization, and reduction of CEP70 decreases ALMS1 at the ciliary basal body, indicating mutual dependency. CRISPR/Cas9 endogenous tagging; affinity purification–mass spectrometry (AP-MS); co-immunoprecipitation; siRNA knockdown in hTERT-RPE1 cells; immunofluorescence Molecular & cellular proteomics High 38122899
2023 In ALMS1-deficient hTERT-BJ-5ta fibroblasts, integrated transcriptomics and proteomics reveal disrupted TGF-β pathway cross-signaling with PI3K/AKT, EGFR1, and p53 pathways; collagen fibril organization, β-oxidation of fatty acids, and eicosanoid metabolism are key altered processes; AKT pathway is overactivated linked to decreased PTEN expression. CRISPR/Cas9 KO; RNA-seq; proteomics; western blot for AKT/PTEN; pathway enrichment analysis Biology direct Medium 38062477
2019 Loss of alms1 in zebrafish causes hyperinsulinemia and glucose response defects; gene expression changes in isolated β-cells from alms1-/- mutants are consistent with insulin hypersecretion and glucose sensing failure, corroborated in cultured murine β-cells lacking Alms1; peripheral glucose uptake defects are also observed, supporting a model in which hyperinsulinemia is the primary causative defect underlying T2DM in alms1 deficiency. CRISPR/Cas9 alms1 knockout zebrafish; β-cell RNA-seq; glucose tolerance/insulin assays; cultured murine β-cell Alms1 KD Human molecular genetics High 31220269
2024 Mesenchymal stem cell (Pdgfrα-Cre)-specific Alms1 knockout in mice recapitulates insulin resistance, fatty liver, and dyslipidemia, establishing a cell-autonomous role for ALMS1 in the adipose/mesenchymal lineage in driving systemic metabolic dysfunction; hyperphagia in MSC KO females may involve oligodendrocyte precursor cells rather than neurons. Conditional (Pdgfrα-Cre) Alms1 knockout mice; metabolic phenotyping (insulin tolerance, lipid panels, liver histology); body composition measurements; food intake monitoring Molecular metabolism High 38583571
2024 ALMS1 knockout iPSC-derived cardiomyocytes show increased contractility, altered calcium extrusion and impaired calcium handling dynamics, increased glycolytic and mitochondrial respiration, and increased cellular senescence compared to wildtype, revealing a role for ALMS1 in cardiomyocyte calcium homeostasis and metabolism. CRISPR/Cas9 ALMS1 KO in iPSC-derived cardiomyocytes; MuscleMotion contractility analysis; calcium optical mapping; Seahorse metabolic assay; SA-β-galactosidase senescence staining Molecular genetics and metabolism Medium 39243575
2025 In Drosophila, the two ALMS1 orthologs (Alms1a and Alms1b) are required for centriole duplication: acute loss disrupts procentriole formation before Sas-6 cartwheel assembly, and ALMS1 proteins are needed for amplification of the Plk4-Ana2 pool at the duplication site and subsequent Sas-6 recruitment; Alms1a is a PCM protein loaded proximally on centrioles at procentriole formation onset, while Alms1b caps the base of mature centrioles. RNA null alleles; RNAi knockdown; Ultrastructure Expansion Microscopy (U-ExM); immunofluorescence; epistasis analysis with Plk4, Ana2, Sas-6 The EMBO journal High 40021845
2025 Human ALMS1 (an intrinsically disordered protein) acts as an external cofactor for centriole biogenesis by preserving cartwheel-forming capacity without entering the cartwheel itself; disease-linked mutations disrupt cartwheel dynamics causing cartwheel expansion and shedding, leading to centriole amplification; ALMS1 interacts with CEP152, CEP63, and PCNT, which form cartwheel seeds (CSs) that seed cartwheel assembly; depleting ALMS1 abolishes CS assembly and eliminates centrioles, while reintroducing ALMS1 generates de novo centrioles. CRISPR/Cas9 ALMS1 depletion and re-expression; disease-linked mutation introduction; super-resolution microscopy; co-immunoprecipitation identifying CEP152, CEP63, PCNT as interactors; functional rescue experiments bioRxivpreprint Medium 40667363
2025 Phosphoproteomic analysis of ALMS1 KO hTERT-RPE1 cells identifies CDC42 as a central node in TGF-β pathway regulation in the absence of ALMS1, with network diffusion analysis linking ALMS1 loss to endocytosis and TGF-β signaling. CRISPR/Cas9 KO; phosphoproteomics; network diffusion/random walk with restart algorithm; protein-protein and kinase-substrate interaction analysis Scientific reports Medium 41193622
2021 Treatment of ALMS1S1645*/S1645* patient fibroblasts with translational readthrough-inducing drugs (PTC124/ataluren or amlexanox) restores full-length ALMS1 protein expression, corrects SSTR3 mislocalization, and recovers IFT88 expression, demonstrating that full-length ALMS1 is required for proper ciliary receptor localization and intraflagellar transport protein expression. Drug treatment of patient fibroblasts; western blot for ALMS1 protein; immunofluorescence for SSTR3 and IFT88; ciliogenesis assay EBioMedicine Medium 34365092

Source papers

Stage 0 corpus · 91 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2002 Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome. Nature genetics 293 11941369
2002 Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome. Nature genetics 224 11941370
2005 Subcellular localization of ALMS1 supports involvement of centrosome and basal body dysfunction in the pathogenesis of obesity, insulin resistance, and type 2 diabetes. Diabetes 182 15855349
2005 Alms1-disrupted mice recapitulate human Alström syndrome. Human molecular genetics 147 16000322
2006 A role for Alström syndrome protein, alms1, in kidney ciliogenesis and cellular quiescence. PLoS genetics 145 17206865
2006 Fat aussie--a new Alström syndrome mouse showing a critical role for ALMS1 in obesity, diabetes, and spermatogenesis. Molecular endocrinology (Baltimore, Md.) 136 16513793
2007 Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome. Human mutation 128 17594715
2015 Alström Syndrome: Mutation Spectrum of ALMS1. Human mutation 124 25846608
2006 Adaptive failure to high-fat diet characterizes steatohepatitis in Alms1 mutant mice. Biochemical and biophysical research communications 95 16516152
2010 Centriolar association of ALMS1 and likely centrosomal functions of the ALMS motif-containing proteins C10orf90 and KIAA1731. Molecular biology of the cell 89 20844083
2018 ALMS1 and Alström syndrome: a recessive form of metabolic, neurosensory and cardiac deficits. Journal of molecular medicine (Berlin, Germany) 84 30421101
2010 Alström Syndrome protein ALMS1 localizes to basal bodies of cochlear hair cells and regulates cilium-dependent planar cell polarity. Human molecular genetics 78 21071598
2012 The Alström syndrome protein, ALMS1, interacts with α-actinin and components of the endosome recycling pathway. PloS one 68 22693585
2006 Syndromic obesity and diabetes: changes in body composition with age and mutation analysis of ALMS1 in 12 United Kingdom kindreds with Alstrom syndrome. The Journal of clinical endocrinology and metabolism 65 16720663
2012 A truncating mutation of Alms1 reduces the number of hypothalamic neuronal cilia in obese mice. Developmental neurobiology 60 22581473
2011 ALMS1-deficient fibroblasts over-express extra-cellular matrix components, display cell cycle delay and are resistant to apoptosis. PloS one 57 21541333
2011 Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis. Human mutation 53 21901789
2013 Whole-exome sequencing identifies a novel ALMS1 mutation (p.Q2051X) in two Japanese brothers with Alström syndrome. Molecular vision 31 24319333
2017 Ophthalmic features of cone-rod dystrophy caused by pathogenic variants in the ALMS1 gene. Acta ophthalmologica 30 29193673
2010 Transcriptional regulation of the Alström syndrome gene ALMS1 by members of the RFX family and Sp1. Gene 28 20381594
2021 A deleterious mutation in the ALMS1 gene in a naturally occurring model of hypertrophic cardiomyopathy in the Sphynx cat. Orphanet journal of rare diseases 27 33639992
2010 Knockdown of the Alström syndrome-associated gene Alms1 in 3T3-L1 preadipocytes impairs adipogenesis but has no effect on cell-autonomous insulin action. International journal of obesity (2005) 26 20514046
2021 ALMS1 Regulates TGF-β Signaling and Morphology of Primary Cilia. Frontiers in cell and developmental biology 25 33598462
2014 Homozygous loss-of-function mutation in ALMS1 causes the lethal disorder mitogenic cardiomyopathy in two siblings. European journal of medical genetics 25 24972238
2015 ALMS1 null mutations: a common cause of Leber congenital amaurosis and early-onset severe cone-rod dystrophy. Clinical genetics 24 26010121
2009 Population genomic analysis of ALMS1 in humans reveals a surprisingly complex evolutionary history. Molecular biology and evolution 24 19279085
2021 The lncRNA ALMS1-IT1 may promote malignant progression of lung adenocarcinoma via AVL9-mediated activation of the cyclin-dependent kinase pathway. FEBS open bio 19 33683834
2021 Translational readthrough of ciliopathy genes BBS2 and ALMS1 restores protein, ciliogenesis and function in patient fibroblasts. EBioMedicine 19 34365092
2014 Atypical Alstrom syndrome with novel ALMS1 mutations precluded by current diagnostic criteria. European journal of medical genetics 18 24503146
2013 A novel ALMS1 splice mutation in a non-obese juvenile-onset insulin-dependent syndromic diabetic patient. European journal of human genetics : EJHG 18 23652376
2006 Common variations in the ALMS1 gene do not contribute to susceptibility to type 2 diabetes in a large white UK population. Diabetologia 17 16601972
2019 Genomic knockout of alms1 in zebrafish recapitulates Alström syndrome and provides insight into metabolic phenotypes. Human molecular genetics 16 31220269
2015 Nonsyndromic Early-Onset Cone-Rod Dystrophy and Limb-Girdle Muscular Dystrophy in a Consanguineous Israeli Family are Caused by Two Independent yet Linked Mutations in ALMS1 and DYSF. Human mutation 16 26077327
2013 Identification of a glutamic acid repeat polymorphism of ALMS1 as a novel genetic risk marker for early-onset myocardial infarction by genome-wide linkage analysis. Circulation. Cardiovascular genetics 16 24122612
2013 Novel ALMS1 mutations in Chinese patients with Alström syndrome. Molecular vision 14 24049434
2016 Whole exome sequencing identifies a homozygous nonsense variation in ALMS1 gene in a patient with syndromic obesity. Obesity research & clinical practice 13 27665122
2019 Whole exome sequencing identifies rare biallelic ALMS1 missense and stop gain mutations in familial Alström syndrome patients. Saudi journal of biological sciences 10 31889847
2018 Rare Compound Heterozygous Frameshift Mutations in ALMS1 Gene Identified Through Exome Sequencing in a Taiwanese Patient With Alström Syndrome. Frontiers in genetics 10 29720996
2023 Presence of known feline ALMS1 and MYBPC3 variants in a diverse cohort of cats with hypertrophic cardiomyopathy in Japan. PloS one 9 37071642
2021 LHCGR and ALMS1 defects likely cooperate in the development of polycystic ovary syndrome indicated by double-mutant mice. Journal of genetics and genomics = Yi chuan xue bao 9 34147365
2022 Depletion of ALMS1 affects TGF-β signalling pathway and downstream processes such as cell migration and adhesion capacity. Frontiers in molecular biosciences 8 36325276
2021 Identification of a Rare Exon 19 Skipping Mutation in ALMS1 Gene in Alström Syndrome Patients From Two Unrelated Saudi Families. Frontiers in pediatrics 8 33981653
2017 Whole genome sequencing identifies a novel ALMS1 gene mutation in two Chinese siblings with Alström syndrome. BMC medical genetics 8 28724398
2008 Identification of a novel ALMS1 mutation in a Chinese family with Alström syndrome. Eye (London, England) 8 18654604
2020 Atypical Retinal Phenotype in a Patient With Alström Syndrome and Biallelic Novel Pathogenic Variants in ALMS1, Including a de novo Variation. Frontiers in genetics 7 32973878
2020 Generation of an induced pluripotent stem cell line from an Alström Syndrome patient with ALMS1 mutation (c.3902C > A, c.6436C > T) and a gene correction isogenic iPSC line. Stem cell research 7 33264725
2018 Five novel ALMS1 gene mutations in six patients with Alström syndrome. Journal of pediatric endocrinology & metabolism : JPEM 7 29715191
2017 Characterization of Alstrom Syndrome 1 (ALMS1) Transcript Variants in Hodgkin Lymphoma Cells. PloS one 7 28135309
2024 Mesenchymal-specific Alms1 knockout in mice recapitulates metabolic features of Alström syndrome. Molecular metabolism 6 38583571
2024 LncRNA ALMS1-IT1 modulates ferroptosis and immune evasion in colorectal cancer through activating STAT3. Journal of cellular and molecular medicine 6 39334527
2023 Loss of the centrosomal protein ALMS1 alters lipid metabolism and the regulation of extracellular matrix-related processes. Biology direct 6 38062477
2023 Interactome Analysis Reveals a Link of the Novel ALMS1-CEP70 Complex to Centrosomal Clusters. Molecular & cellular proteomics : MCP 6 38122899
2022 Novel Mutations in the MKKS, BBS7, and ALMS1 Genes in Iranian Children with Clinically Suspected Bardet-Biedl Syndrome. Case reports in ophthalmological medicine 6 35912300
2019 Whole exome sequencing identified two homozygous ALMS1 mutations in an Iranian family with Alström syndrome. Gene 6 31669637
2024 Characterisation of infantile cardiomyopathy in Alström syndrome using ALMS1 knockout induced pluripotent stem cell derived cardiomyocyte model. Molecular genetics and metabolism 5 39243575
2021 Upregulated Long Non-coding RNA ALMS1-IT1 Promotes Neuroinflammation by Activating NF-κB Signaling in Ischemic Cerebral Injury. Current pharmaceutical design 5 34455967
2017 A Nonsense ALMS1 Mutation Underlies Alström Syndrome in an Extended Mennonite Kindred Settled in North Mexico. Genetic testing and molecular biomarkers 5 28402684
2024 Overburden of rare ALMS1 deleterious variants in Chinese early-onset type 2 diabetes with severe insulin resistance. Diabetes/metabolism research and reviews 4 38546151
2023 HCM-associated ALMS1 variant: Allele drop-out and frequency in Italian Sphynx cats. Animal genetics 4 37345275
2023 Unique phenotypic-genotypic correlation in Saudi patients with ALMS1 mutations. Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society 4 38155680
2022 Whole-Genome Sequencing Identifies Novel Heterozygous Mutation in ALMS1 in Three Men With Both Peyronie's and Dupuytren's Disease. Urology 4 35292292
2021 Prevalent ALMS1 Pathogenic Variants in Spanish Alström Patients. Genes 4 33669459
2021 Whole-exome sequencing identifies two novel ALMS1 mutations in Indian patients with Leber congenital amaurosis. Human genome variation 4 33782391
2021 Novel Mutations of the ALMS1 Gene in Patients with Alström Syndrome. Internal medicine (Tokyo, Japan) 4 34148947
2020 A novel variant in ALMS1 in a patient with Alström syndrome and prenatal diagnosis for the fetus in the family: A case report and literature review. Molecular medicine reports 4 32945434
2019 A case report of two siblings with Alstrom syndrome without hearing loss associated with two new ALMS1 variants. BMC ophthalmology 4 31810438
2025 Drosophila Alms1 proteins regulate centriolar cartwheel assembly by enabling Plk4-Ana2 amplification loop. The EMBO journal 3 40021845
2024 Whole-exome sequencing revealed a novel mutation of the ALMS1 gene in a Chinese family with Alström syndrome: a case report. BMC pediatrics 3 39095761
2023 A novel missense ALMS1 variant causes aberrant splicing identified in a cohort of patients with Alström syndrome. Frontiers in genetics 3 36685911
2021 alms1 mutant zebrafish do not show hair cell phenotypes seen in other cilia mutants. PloS one 3 33793549
2024 Prevalence of Hypertrophic Cardiomyopathy and ALMS1 Variant in Sphynx Cats in New Zealand. Animals : an open access journal from MDPI 2 39335220
2024 ALMS1 KO rat: a new model of metabolic syndrome with spontaneous hypertension. bioRxiv : the preprint server for biology 2 39386593
2022 New pathogenic variants of ALMS1 gene in two Chinese families with Alström Syndrome. BMC ophthalmology 2 36162988
2021 [Analysis of ALMS1 gene variants in seven patients with Alström syndrome]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2 33565060
2021 Alström syndrome with a novel mutation of ALMS1 and Graves' hyperthyroidism: A case report and review of the literature. World journal of clinical cases 2 33969109
2016 A novel ALMS1 homozygous mutation in two Turkish brothers with Alström syndrome. Journal of pediatric endocrinology & metabolism : JPEM 2 26910739
2026 Alms1 KO Rat: A New Model of Cardiometabolic Syndrome With Spontaneous Hypertension. Acta physiologica (Oxford, England) 1 41691606
2024 New variants of ALMS1 gene and familial Alström syndrome case series. Brazilian journal of otorhinolaryngology 1 38428329
2024 Identification of novel compound heterozygous variants of the ALMS1 gene in a child with Alström syndrome by whole genome sequencing. Gene 1 39122231
2023 Unraveling Alström syndrome: Homozygous mutation c.2729C>G in ALMS1 gene across an extended family. Molecular genetics & genomic medicine 1 37937857
2026 Clinical Presentation of a Child With a Novel ALMS1 Variant Associated With Alström Syndrome and Favorable Response to GLP-1 Receptor Agonist Therapy. American journal of medical genetics. Part A 0 41549937
2026 Characterisation of a Missense Variant of the Alström Syndrome Centrosome and Basal Body Associated Protein (ALMS1) Gene Associated with Cardiomyopathy Using Induced Pluripotent Stem Cells. Genes 0 41751610
2026 Generation of an induced pluripotent stem cell line from an Alström syndrome patient with biallelic ALMS1 pathogenic variants. Stem cell research 0 42035521
2025 A CASE OF ALSTRÖM SYNDROME WITH A NOVEL VARIANT IN ALMS1 GENE PRESENTING WITH CONE ROD DYSTROPHY AS FIRST FINDING. Retinal cases & brief reports 0 38569205
2025 Centriole biogenesis is seeded by CEP152-CEP63-PCNT aggregates propagating outside the centriole through the Alström syndrome protein ALMS1. bioRxiv : the preprint server for biology 0 40667363
2025 Integrating Multiomics and Machine Learning: Senescence-Regulated ALMS1-IT1/miR-7c-5p/HMGA2 Axis as a Novel Therapeutic Target for Head and Neck Squamous Cell Carcinoma. ACS omega 0 40686969
2025 Endocrine metabolism characteristics of Alström syndrome in 25 Chinese patients and identification of a new splice site in the ALMS1 gene. Diabetology & metabolic syndrome 0 41044667
2025 Phosphoproteomic profiling highlights CDC42 and CDK2 as key players in the regulation of the TGF-β pathway in ALMS1 and BBS1 knockout models. Scientific reports 0 41193622
2023 Mesenchymal-specific Alms1 knockout in mice recapitulates key metabolic features of Alström Syndrome. bioRxiv : the preprint server for biology 0 37873427
2022 Identification of a novel mutation in ALMS1 in a Chinese patient with monogenic diabetic syndrome by whole-exome sequencing. Nigerian journal of clinical practice 0 36537469
2022 Diagnosis, treatment and genetic analysis of a case of Alstrom syndrome caused by compoud heterozygous mutation of ALMS1. Yi chuan = Hereditas 0 36927560