Affinage

DEGS1

Sphingolipid delta(4)-desaturase DES1 · UniProt O15121

Length
323 aa
Mass
37.9 kDa
Annotated
2026-06-09
100 papers in source corpus 12 papers cited in narrative 12 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 6/6 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

DEGS1 encodes a membrane fatty acid desaturase that catalyzes the final step of de novo ceramide biosynthesis, introducing the Δ4 double bond that converts dihydroceramide to ceramide (PMID:25352638, PMID:30620337). Cloned as a member of the membrane fatty acid desaturase family bearing three conserved histidine-rich motifs, it is an integral membrane protein extractable only with detergent and was initially localized to the endoplasmic reticulum (PMID:9188692); subsequent work refined this to a mitochondria-associated ER membrane (MAM) residence, where DEGS1 activity supports MAM core functions including mitochondrial dynamics, cholesterol esterification, phospholipid balance, and lipid droplet biogenesis (PMID:36951944). Enzyme activity is enhanced by N-myristoylation, which also redirects a fraction of the protein from ER to mitochondria (PMID:22139871). Loss of DEGS1 function — pharmacological, genetic, or via disease-associated variants — elevates dihydroceramide and raises the dihydroceramide/ceramide ratio, blocking adipocyte differentiation and increasing oxidative stress and cell death (PMID:25352638), and DEGS1 also acts as a downstream effector linking HER2-driven glucose metabolism to anchorage-independent tumor cell survival (PMID:36165222). Biallelic loss-of-function mutations in DEGS1 cause hypomyelinating leukodystrophy and related multisystem neurological disease driven by dihydroceramide/ceramide imbalance, with the upstream ceramide synthase inhibitor fingolimod correcting the imbalance and myelination defect (PMID:30620337, PMID:30620338). A reported retinol isomerase activity in retinal Müller glia (PMID:23143414) was not supported physiologically, as Müller-cell-specific DEGS1 deletion left the cone visual cycle intact (PMID:30645148).

Mechanistic history

Synthesis pass · year-by-year structured walk · 9 steps
  1. 1997 Medium

    Establishing the molecular identity of DEGS1 answered whether this gene encoded a bona fide membrane desaturase and where it acted in the cell.

    Evidence Molecular cloning, detergent/salt/urea fractionation, ER immunolocalization, and overexpression in cells

    PMID:9188692

    Open questions at the time
    • Did not identify the enzymatic substrate or reaction
    • EGF receptor biosynthesis effect mechanism unexplained
    • No structural model of the catalytic site
  2. 2011 High

    Identifying N-myristoylation as a regulator addressed how DEGS1 activity and subcellular distribution are controlled post-translationally.

    Evidence N-terminal Gly→Ala myristoylation mutant, subcellular fractionation, confocal imaging, and enzyme activity in rat hepatocytes

    PMID:22139871

    Open questions at the time
    • Functional consequence of the mitochondrial enzyme pool not resolved
    • Did not establish whether myristoylation is dynamically regulated in vivo
  3. 2012 High

    A proposed retinol isomerase role tested whether DEGS1 has a function beyond sphingolipid metabolism in the visual cycle.

    Evidence Co-IP with CRALBP, in vitro isomerase assay with purified protein, RNAi, and adenoviral rescue in Rpe65−/− mice

    PMID:23143414

    Open questions at the time
    • Physiological requirement in vivo not demonstrated
    • Relationship to the canonical desaturase activity unclear
  4. 2014 High

    Defining DEGS1 as the terminal dihydroceramide desaturase placed the enzyme firmly in de novo ceramide biosynthesis and linked it to cellular differentiation.

    Evidence Pharmacological and genetic loss-of-function in preadipocytes, lipid mass spectrometry, differentiation and viability assays, in vivo inhibition

    PMID:25352638

    Open questions at the time
    • Mechanism connecting dihydroceramide accumulation to oxidative stress not detailed
    • Tissue-specificity of the adipogenic effect not addressed
  5. 2019 High

    Patient genetics and functional validation established DEGS1 loss of function as a Mendelian cause of hypomyelinating leukodystrophy and multisystem neurological disease, defining the pathogenic mechanism as dihydroceramide/ceramide imbalance.

    Evidence Whole-exome sequencing, patient lipidomics, CRISPR/Cas9 knockout, enzymatic assays, zebrafish modeling, and fingolimod pharmacological rescue across concurrent independent studies

    PMID:30620337 PMID:30620338 PMID:31227640

    Open questions at the time
    • How dihydroceramide accumulation impairs myelination at the cellular level remains undefined
    • Identity and toxicity of the atypical sphingosine isomer not fully resolved
  6. 2019 High

    A conditional Müller-cell knockout tested the physiological relevance of the proposed isomerase role and found it dispensable for the cone visual cycle.

    Evidence Pdgfrα-Cre × floxed Des1 on Gnat1−/− background, electroretinography, histology, and enzyme activity assay

    PMID:30645148

    Open questions at the time
    • Does not rule out isomerase activity in other retinal cells
    • Reconciliation with the 2012 in vitro isomerase findings not provided
  7. 2022 Medium

    Epistasis experiments positioned DEGS1 as a downstream effector linking HER2-driven glucose metabolism to anchorage-independent tumor cell survival.

    Evidence RNAi knockdown, overexpression, anchorage-independent growth assays, and HER2 pathway epistasis

    PMID:36165222

    Open questions at the time
    • Molecular link between glucose metabolism and DEGS1 activity not defined
    • Single lab; in vivo tumor relevance not established
  8. 2023 High

    Refining DEGS1 localization to MAMs explained how its deficiency disrupts mitochondrial dynamics, sterol/phospholipid metabolism, and lipid droplet biogenesis beyond simple ceramide depletion.

    Evidence Patient fibroblast multiomics, SOAT enzymatic assay, mitochondrial morphology imaging, superoxide detection, and muscle respirometry

    PMID:36951944

    Open questions at the time
    • Causal chain from dihydroceramide imbalance to each MAM defect not dissected
    • Whether DEGS1 is structurally required for MAM integrity versus metabolically required is unresolved
  9. 2023 Low

    Structural modeling and biomarker analysis proposed a substrate-binding site and a regulatory link to FADS3, and identified a specific lipid signature of DEGS1 loss of function.

    Evidence Patient plasma lipidomics, computational structural modeling, and bioinformatic FADS3 analysis

    PMID:37890668

    Open questions at the time
    • No direct enzymatic or binding assay confirming the predicted substrate site
    • FADS3 interaction inferred bioinformatically, not experimentally validated

Open questions

Synthesis pass · forward-looking unresolved questions
  • How dihydroceramide/ceramide imbalance is mechanistically transduced into hypomyelination, MAM dysfunction, and tumor survival, and whether DEGS1 has any validated non-desaturase activity, remain open.
  • No experimentally validated substrate-binding structure
  • Cell-type-specific mechanism of demyelination undefined
  • Physiological role of the mitochondrial/MAM enzyme pool not isolated from the ER pool

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0016491 oxidoreductase activity 4 GO:0016740 transferase activity 1
Localization
GO:0005783 endoplasmic reticulum 3 GO:0005739 mitochondrion 2
Pathway
R-HSA-1430728 Metabolism 3 R-HSA-1643685 Disease 2
Partners
CRALBPFADS3

Evidence

Reading pass · 12 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
1997 MLD (DEGS1) was cloned as a member of the membrane fatty acid desaturase gene family, containing three consensus histidine-rich motifs (HX3H, HX2HH, HX2HHXFP) characteristic of membrane fatty acid desaturases. The protein is extractable from particulate fractions only with detergent (not salt or urea), is widely expressed in human tissues, and localizes to the endoplasmic reticulum. Overexpression of MLD inhibited EGF receptor biosynthesis without affecting PDGF receptor expression. Molecular cloning, cell fractionation (detergent/salt/urea extraction), immunolocalization to ER, co-transfection overexpression assay Biochemistry Medium 9188692
2012 DES1 (DEGS1) was identified as a retinol isomerase (isomerase-2) in retinal Müller glial cells. DES1 co-immunoprecipitates with CRALBP in Müller cells. Purified DES1 showed high isomerase-2 activity in vitro in the presence of appropriate cofactors. RNAi knockdown of DES1 reduced isomerase-2 activity in cultured Müller cells. Adenoviral DES1 gene therapy partially rescued biochemical and physiological phenotypes in Rpe65−/− mice. Co-immunoprecipitation, in vitro isomerase activity assay with purified protein, RNAi knockdown, adenoviral gene therapy rescue in Rpe65−/− mice Nature chemical biology High 23143414
2014 DEGS1 is the desaturase catalyzing the last step in the de novo ceramide biosynthetic pathway (converting dihydroceramide to ceramide). Pharmacological or genetic ablation of DEGS1 in preadipocytes elevated dihydroceramide content, prevented adipogenesis, decreased lipid accumulation, and increased oxidative stress and cell death, establishing DEGS1 as a regulator of adipocyte differentiation through ceramide/dihydroceramide balance. Pharmacological inhibition and genetic knockdown (loss-of-function), lipid mass spectrometry, cell differentiation and viability assays, in vivo pharmacological inhibition Diabetes High 25352638
2019 Biallelic loss-of-function mutations in DEGS1, encoding C4-dihydroceramide desaturase, cause hypomyelinating leukodystrophy. Patient fibroblasts and muscle showed marked accumulation of the substrate dihydroceramide (DhCer) and increased DhCer/Cer ratios. Disease modeling in zebrafish confirmed the phenotype. Fingolimod (which inhibits ceramide synthase, one step prior to DEGS1) reduced DhCer/Cer imbalance and locomotor disability and increased myelinating oligodendrocytes in zebrafish, establishing the enzymatic pathway position of DEGS1. Whole-exome sequencing, lipidomics in patient fibroblasts and muscle, zebrafish knockdown model, pharmacological rescue with fingolimod The Journal of clinical investigation High 30620337
2019 A homozygous p.Ala280Val variant in DEGS1 causes a multisystem neurological disorder with elevated dihydro-sphingolipid species. DEGS1 enzymatic activity in patient fibroblasts was reduced by ~80%. CRISPR/Cas9 DEGS1-knockout cells and pharmacological DEGS1 inhibition recapitulated the dihydro-sphingolipid accumulation. An atypical sphingosine isomer was detected in patient plasma and cells expressing mutant DEGS1, suggesting a potentially neurotoxic metabolite. Whole-exome sequencing, lipidomics in patient fibroblasts and plasma, enzymatic activity assay, CRISPR/Cas9 knockout, pharmacological inhibition The Journal of clinical investigation High 30620338
2019 A rare DEGS1 missense variant L175Q (Hispanic ancestry-specific) is associated with large increases in plasma dihydroceramides and dramatically reduced indexes of DEGS1 enzymatic activity in heterozygous carriers. CRISPR/Cas9 editing of the L175Q variant into HepG2 cells confirmed partial loss of DEGS1 function. Population genomics, plasma lipidomics, enzymatic activity assay, CRISPR/Cas9 genome editing in HepG2 cells Journal of lipid research High 31227640
2019 Conditional knockout of DEGS1 (Des1) specifically in retinal Müller cells did not impair cone visual pigment regeneration or dark adaptation in mice, but slightly accelerated the rate of cone phototransduction termination. This result indicates that Müller cell DEGS1 expression is not required for cone visual cycle function. Conditional knockout (Pdgfrα-Cre × floxed Des1 on Gnat1−/− background), electroretinography, retinal histology, enzymatic activity assay FASEB journal High 30645148
2011 Myristic acid specifically increases native DEGS1 (DES1) enzymatic activity in cultured rat hepatocytes through N-myristoylation. The wild-type myristoylable form of recombinant DES1 localizes to both the ER and mitochondria, whereas a non-myristoylable mutant (N-terminal Gly→Ala) is almost exclusively in the ER. Myristic acid-increased DEGS1 activity was not due to increased mRNA or protein levels and slightly enhanced apoptosis. N-terminal myristoylation mutagenesis (Gly→Ala), subcellular fractionation, enzymatic activity assay in hepatocytes, confocal localization Lipids High 22139871
2023 DEGS1 is a mitochondria-associated endoplasmic reticulum membrane (MAM)-resident enzyme, refining prior ER-only localization. DEGS1 deficiency (patient fibroblasts) disrupts MAM core functions: (a) mitochondrial dynamics — hyperfused mitochondrial network with decreased DRP1 activation; (b) cholesterol metabolism — impaired SOAT activity and decreased cholesteryl esters; (c) phospholipid metabolism — increased phosphatidic acid and phosphatidylserine, decreased phosphatidylethanolamine; (d) lipid droplet biogenesis — increased size and number. Increased mitochondrial superoxide and impaired mitochondrial respiration were also detected in patient muscle. Patient fibroblast studies, multiomics (proteomics, lipidomics, metabolomics), enzymatic assays (SOAT activity), mitochondrial morphology imaging, superoxide detection, muscle biopsy respirometry The Journal of clinical investigation High 36951944
2022 DES1 (DEGS1) is necessary and sufficient for anchorage-independent survival (AIS) downstream of HER2-driven glucose uptake and metabolism. DES1 knockdown abolished HER2-driven AIS; DES1 overexpression was sufficient to drive AIS and in vitro tumorigenicity. DEGS1 thus acts as a transducer linking HER2-driven glucose metabolic signals to ceramide synthesis and cancer cell survival. RNAi knockdown, overexpression, anchorage-independent growth assays, HER2 pathway epistasis FASEB journal Medium 36165222
2023 Two novel DEGS1 variants near the C-terminus were characterized; structural modeling predicted a substrate-binding site. A regulatory link between DEGS1 and fatty acid desaturase 3 (FADS3) was proposed based on detection of the atypical SPB 18:1(14Z);O2 metabolite in patients with pathogenic DEGS1 variants but not in those with benign variants, establishing SPB 18:1(14Z);O2 as a specific biomarker of DEGS1 loss of function. Patient plasma lipidomics, structural modeling of DEGS1, bioinformatic analysis of FADS3 regulatory link Journal of lipid research Low 37890668
1998 The Des-1 protein in Drosophila melanogaster (an ortholog with six predicted transmembrane domains) is required for central spindle assembly and cytokinesis during male meiosis. Des-1 colocalizes with mitochondria throughout meiosis, associates with the spindle apparatus during anaphase/telophase, and localizes to the contractile ring. Loss of des-1 causes male sterility from cytokinesis failure. P-element mutagenesis, affinity-purified antibody immunolocalization in spermatocytes, phenotypic analysis of meiotic end products Molecular & general genetics Medium 9819060

Source papers

Stage 0 corpus · 100 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2002 Allogeneic mesenchymal stem cell infusion for treatment of metachromatic leukodystrophy (MLD) and Hurler syndrome (MPS-IH). Bone marrow transplantation 489 12203137
1989 Insulin-like growth factor (IGF)-binding proteins inhibit the biological activities of IGF-1 and IGF-2 but not des-(1-3)-IGF-1. The Biochemical journal 185 2539101
1993 The nature of the trophic action of brain-derived neurotrophic factor, des(1-3)-insulin-like growth factor-1, and basic fibroblast growth factor on mesencephalic dopaminergic neurons developing in culture. Neuroscience 172 8095710
1991 IGF-I and the truncated analogue des-(1-3)IGF-I enhance growth in rats after gut resection. The American journal of physiology 148 1996625
2012 Identification of DES1 as a vitamin A isomerase in Müller glial cells of the retina. Nature chemical biology 91 23143414
1991 Plasma clearance and tissue distribution of labelled insulin-like growth factor-I (IGF-I), IGF-II and des(1-3)IGF-I in rats. The Journal of endocrinology 86 2005410
2019 Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy. The Journal of clinical investigation 81 30620337
2019 DEGS1-associated aberrant sphingolipid metabolism impairs nervous system function in humans. The Journal of clinical investigation 80 30620338
1994 Role of the NH2-terminal domain of angiotensin II (ANG II) and [Sar1]angiotensin II on conformation and activity. NMR evidence for aromatic ring clustering and peptide backbone folding compared with [des-1,2,3]angiotensin II. The Journal of biological chemistry 71 8106515
2000 Cooperative interaction between mutant p53 and des(1-3)IGF-I accelerates mammary tumorigenesis. Oncogene 70 10702797
1991 Increased weight gain, nitrogen retention and muscle protein synthesis following treatment of diabetic rats with insulin-like growth factor (IGF)-I and des(1-3)IGF-I. The Biochemical journal 67 1710892
2018 Withaferin-A attenuates multiple low doses of Streptozotocin (MLD-STZ) induced type 1 diabetes. Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie 63 30119216
1975 Selective inhibition by des-1-Asp-8-lle-angiotensin ii of the steroidogenic response to restricted sodium intake in the rat. Circulation research 61 1157223
1984 Comparison of coagulation factor Xa and des-(1-44)factor Xa in the assembly of prothrombinase. The Journal of biological chemistry 60 6698966
1983 Myelin basic protein deposition in the optic and sciatic nerves of dysmyelinating mutants quaking, jimpy, Trembler, mld, and shiverer during development. Journal of neurochemistry 59 6194264
1975 Des-1-Asp-angiotensin II. Possible intrarenal role in homeostasis in the dog. Circulation research 58 1149185
2014 Increased dihydroceramide/ceramide ratio mediated by defective expression of degs1 impairs adipocyte differentiation and function. Diabetes 57 25352638
1991 Two new arylsulfatase A (ARSA) mutations in a juvenile metachromatic leukodystrophy (MLD) patient. American journal of human genetics 55 1684088
1992 des-(1-3)-IGF-I, an insulin-like growth factor analog used to mimic a potential IGF-II autocrine loop, promotes the differentiation of human colon-carcinoma cells. International journal of cancer 49 1281142
2011 Prevention of multiple low-dose streptozotocin (MLD-STZ) diabetes in mice by an extract from gum resin of Boswellia serrata (BE). Phytomedicine : international journal of phytotherapy and phytopharmacology 45 21831620
1994 Generation of des-(1-3) insulin-like growth factor-I in serum by an acid protease. Endocrinology 45 7988428
2019 DEGS1 variant causes neurological disorder. European journal of human genetics : EJHG 39 31186544
1997 The product of the MLD gene is a member of the membrane fatty acid desaturase family: overexpression of MLD inhibits EGF receptor biosynthesis. Biochemistry 38 9188692
1988 Gene organization and transcription of duplicated MBP genes of myelin deficient (shi(mld)) mutant mouse. The EMBO journal 37 2452084
1984 Myelination in the CNS of mld mutant mice: comparison between composition and structure. Brain research 37 6202376
2023 Sphingolipid desaturase DEGS1 is essential for mitochondria-associated membrane integrity. The Journal of clinical investigation 36 36951944
1991 IGF-I and its variant, des-(1-3)IGF-I, enhance growth in rats with reduced renal mass. The American journal of physiology 35 1928375
1992 An evaluation of different enzymatic cleavage methods for recombinant fusion proteins, applied on des(1-3)insulin-like growth factor I. Journal of protein chemistry 34 1388667
1992 Two different Ca2+ ion binding sites in factor VIIa and in des(1-38) factor VIIa. FEBS letters 34 1633884
1996 Des(1-3)IGF-I: a truncated form of insulin-like growth factor-I. The international journal of biochemistry & cell biology 33 8930132
2000 A non-glycosylated and functionally deficient mutant (N215H) of the sphingolipid activator protein B (SAP-B) in a novel case of metachromatic leukodystrophy (MLD). Journal of inherited metabolic disease 31 10682309
1987 Structure and expression of myelin basic protein gene sequences in the mld mutant mouse: reiteration and rearrangement of the MBP gene. Genetics 31 2440764
2014 Long-term correction of biochemical and neurological abnormalities in MLD mice model by neonatal systemic injection of an AAV serotype 9 vector. Gene therapy 27 24572788
2001 Inability of overexpressed des(1-3)human insulin-like growth factor I (IGF-I) to inhibit forced mammary gland involution is associated with decreased expression of IGF signaling molecules. Endocrinology 27 11250928
1991 The effects of insulin-like growth factor-I (IGF-I), IGF-II and des(1-3)IGF-I, a potent IGF analogue, on growth hormone and IGF-binding protein secretion from cultured rat anterior pituitary cells. The Journal of endocrinology 27 1715381
2020 The coordination of guard-cell autonomous ABA synthesis and DES1 function in situ regulates plant water deficit responses. Journal of advanced research 26 33318877
1999 Effect of insulin-like growth factor (IGF)-I and Des (1-3) IGF-I on the level of IGF binding protein-3 and IGF binding protein-3 mRNA in cultured porcine embryonic muscle cells. Journal of cellular physiology 26 10048587
1994 Des (1-3) IGF-I potently enhances differentiated cell growth in olfactory bulb organ culture. Growth factors (Chur, Switzerland) 25 7779409
2019 Conditional deletion of Des1 in the mouse retina does not impair the visual cycle in cones. FASEB journal : official publication of the Federation of American Societies for Experimental Biology 23 30645148
2019 Rare DEGS1 variant significantly alters de novo ceramide synthesis pathway. Journal of lipid research 23 31227640
2018 IL-33 Prevents MLD-STZ Induction of Diabetes and Attenuate Insulitis in Prediabetic NOD Mice. Frontiers in immunology 23 30498495
1994 The des(1-6)antennapedia homeodomain: comparison of the NMR solution structure and the DNA-binding affinity with the intact Antennapedia homeodomain. Proceedings of the National Academy of Sciences of the United States of America 23 7909611
1983 Intrinsic myelin proteins are normally synthesized in vitro in the myelin-deficient (mld) mutant mouse. Developmental neuroscience 23 6680688
1996 Late juvenile metachromatic leukodystrophy (MLD) in three patients with a similar clinical course and identical mutation on one allele. Clinical genetics 22 9007312
2020 Electrochemically Active In Situ Crystalline Lithium-Organic Thin Films by ALD/MLD. ACS applied materials & interfaces 20 32818370
2003 Identification of nine novel arylsulfatase a (ARSA) gene mutations in patients with metachromatic leukodystrophy (MLD). Human mutation 20 14517960
1987 Immunohistochemical, biochemical and electron microscopic analysis of myelin formation in the central nervous system of myelin deficient (mld) mutant mice. Brain research 20 2443219
1986 Mice heterozygous for the mld mutation have intermediate levels of myelin basic protein mRNA and its translation products. Brain research 20 2431744
1983 Immunocytochemical investigations of murine leukodystrophies. A study of the mutants 'jimpy' (jp) and 'myelin deficient' (mld). Brain research 20 6191832
2005 Overexpression of des(1-3) insulin-like growth factor 1 in the mammary glands of transgenic mice delays the loss of milk production with prolonged lactation. Biology of reproduction 19 16079306
2002 Biochemical-genetic analysis and distribution of DES-1, an Ambler class A extended-spectrum beta-lactamase from Desulfovibrio desulfuricans. Antimicrobial agents and chemotherapy 19 12234847
1999 Transgenic hypersecretion of des(1-3) human insulin-like growth factor I in mouse milk has limited effects on the gastrointestinal tract in suckling pups. The Journal of nutrition 19 9915875
1983 In vitro myelin basic protein synthesis in the PNS and CNS of myelin deficient (mld) mutant mice. Brain research 19 6196085
2023 Nutrient scoring for the DEGS1-FFQ - from food intake to nutrient intake. BMC nutrition 18 36639712
2009 VGD and MLD-motifs containing heterodimeric disintegrin viplebedin-2 from Vipera lebetina snake venom. Purification and cDNA cloning. Comparative biochemistry and physiology. Part B, Biochemistry & molecular biology 17 19296915
2002 Des (1-3) IGF-I-stimulated growth of human stromal BPH cells is inhibited by a vitamin D3 analogue. Molecular and cellular endocrinology 17 12573816
1998 The Des-1 protein, required for central spindle assembly and cytokinesis, is associated with mitochondria along the meiotic spindle apparatus and with the contractile ring during male meiosis in Drosophila melanogaster. Molecular & general genetics : MGG 17 9819060
1997 Biodistribution of 125I-labeled des(1-3) insulin-like growth factor I in tumor-bearing nude mice and its in vitro catabolism. Cancer research 17 9205087
2009 DNA vaccine containing the mycobacterial hsp65 gene prevented insulitis in MLD-STZ diabetes. Journal of immune based therapies and vaccines 16 19754943
2003 Des(1-3)IGF-1 treatment normalizes type 1 IGF receptor and phospho-Akt (Thr 308) immunoreactivity in predegenerative retina of diabetic rats. International journal of experimental diabesity research 16 12745670
1999 Leflunomide protects mice from multiple low dose streptozotocin (MLD-SZ)-induced insulitis and diabetes. Clinical and experimental immunology 16 10403914
2021 Emodin inhibits viability, proliferation and promotes apoptosis of hypoxic human pulmonary artery smooth muscle cells via targeting miR-244-5p/DEGS1 axis. BMC pulmonary medicine 15 34332565
2020 DES1: A Key Driver of Lipotoxicity in Metabolic Disease. DNA and cell biology 15 32181687
1986 The stimulation by monovalent cations of the amidase activity of bovine des-1-41 light chain activated protein C. The Journal of biological chemistry 15 3771560
2023 A retrospective cohort study of Libmeldy (atidarsagene autotemcel) for MLD: What we have accomplished and what opportunities lie ahead. JIMD reports 14 37701322
2003 Spectrum of mutations in the arylsulfatase A gene in a Canadian DNA collection including two novel frameshift mutations, a new missense mutation (C488R) and an MLD mutation (R84Q) in cis with a pseudodeficiency allele. Molecular genetics and metabolism 14 12809638
1993 Insulin-like growth factor binding protein-1 from Hep G2 cells is potently inhibited by the truncated IGF-I analogue des-(1-3) IGF-I. Acta endocrinologica 14 7680515
1985 Des-1-25-fructose-1,6-bisphosphatase, a nonallosteric derivative produced by trypsin treatment of the native protein. The Journal of biological chemistry 14 2997170
2007 A multiplex PCR method discriminating between the TYLCV and TYLCV-Mld clades of tomato yellow leaf curl virus. Journal of virological methods 13 17485124
2000 Adult-onset MLD: a gene mutation with isolated polyneuropathy. Neurology 13 11061266
1995 Metachromatic leucodystrophy (MLD) in a patient with a constitutional ring chromosome 22. Journal of medical genetics 13 8558556
1989 The duplicated myelin basic protein gene in mld mutant mice does not impair transcription. Brain research 13 2467724
1989 A comparison between activated protein C and des-1-41-light chain-activated protein C in reactions with type 1 plasminogen activator inhibitor. Blood 13 2787675
1983 des-(1-13) human beta-endorphin interacts with calmodulin. Peptides 13 6312432
1982 Initial Stages in the Biodegradation of the Surfactant Sodium Dodecyltriethoxy Sulfate by Pseudomonas sp. Strain DES1. Applied and environmental microbiology 13 16346108
2023 DEGS1 -related leukodystrophy: a clinical report and review of literature. Clinical dysmorphology 12 37195341
2023 The atypical sphingolipid SPB 18:1(14Z);O2 is a biomarker for DEGS1 related hypomyelinating leukodystrophy. Journal of lipid research 12 37890668
1987 The effect of divalent cations on the amidolytic activity of bovine plasma activated protein C and des-1-41-light chain activated protein C. The Journal of biological chemistry 12 3597424
2000 Brazilin augments cellular immunity in multiple low dose streptozotocin (MLD-STZ) induced type I diabetic mice. Archives of pharmacal research 11 11156186
2017 Metachromatic Leukodystrophy (MLD): a Pakistani Family with Novel ARSA Gene Mutation. Journal of molecular neuroscience : MN 10 28799099
2004 Late onset MLD with normal nerve conduction associated with two novel missense mutations in the ASA gene. Journal of neurology, neurosurgery, and psychiatry 10 15026521
1991 The endogenous lectin cerebellar soluble lectin and its ligands in central nervous system myelin of myelin-deficient (mld) mutant mice. Journal of neurochemistry 10 1703219
1991 Expression, purification and characterization of secreted recombinant human insulin-like growth factor-I (IGF-I) and the potent variant des(1-3) IGF-I in Chinese hamster ovary cells. Journal of molecular endocrinology 10 1883485
1988 The role of myelination in learning performance observed in two strains of myelin-deficient mutant mice (shiverer and mld). Behavioral and neural biology 10 2465759
2012 Profile of fatty acids, muscle structure and shear force of musculus longissimus dorsi (MLD) in growing pigs as affected by energy and protein or protein restriction followed by realimentation. Meat science 9 22424756
2011 Myristic acid increases dihydroceramide Δ4-desaturase 1 (DES1) activity in cultured rat hepatocytes. Lipids 9 22139871
1987 The binding of Mn2+ to bovine plasma protein C, des(1-41)-light chain protein C, and activated des(1-41)-light chain activated protein C. Archives of biochemistry and biophysics 9 3579297
1982 Density distribution of 2?,3?-cyclic nucleotide 3?-phosphodiesterase and myelin proteins in particulate material from myelin deficient (mld) mutant and control brains. Neurochemistry international 9 20487852
1992 Insulin-like growth factor I and its variant, des(1-3)IGF-I, improve nitrogen balance and food utilization in rats with renal failure. Mineral and electrolyte metabolism 8 1465072
1981 Heterozygote detection in MLD. allelic mutations at the ARA locus. Human genetics 8 6120139
2019 Heterogeneity of Mesenchymal Stromal Cells in Myelodysplastic Syndrome-with Multilineage Dysplasia (MDS-MLD). Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion 7 30988556
2019 Three novel variants in the arylsulfatase A (ARSA) gene in patients with metachromatic leukodystrophy (MLD). BMC research notes 6 31694723
1997 The growth hormone dependent serine protease inhibitor, Spi 2.1 inhibits the des (1-3) insulin-like growth factor-I generating protease. Endocrinology 6 9389551
1987 The effect of monovalent cations on the pre-steady state reaction kinetics of bovine activated plasma protein C and des-1-41-light chain activated plasma protein C. The Journal of biological chemistry 6 3793723
2022 Dihydroceramide desaturase 1 (DES1) promotes anchorage-independent survival downstream of HER2-driven glucose uptake and metabolism. FASEB journal : official publication of the Federation of American Societies for Experimental Biology 5 36165222
2018 Clinical, Molecular, and Computational Analysis Showed a Novel Homozygous Mutation Among the Substrate-Binding Site of ARSA Protein in Consanguineous Family with Late-Infantile MLD. Journal of molecular neuroscience : MN 5 30083785
1992 Molecular genetic analysis of the mldr mouse: a spontaneous revertant at the mld locus containing a recombinant myelin basic protein gene. Genetics 5 1371758
1987 205Tl+ as a spectroscopic probe of the monovalent cation binding sites of bovine plasma activated protein C and des-1-41-light-chain-activated protein C. The Journal of biological chemistry 5 3584107
2012 Brain MRI and biological diagnosis in five Tunisians MLD patients. Diagnostic pathology 4 22284439
1989 Metachromatic leukodystrophy (MLD) in hospitalized adult schizophrenic patients resistant to drug treatment. Canadian journal of psychiatry. Revue canadienne de psychiatrie 4 2567620

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