Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I
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Charcot-Marie-Tooth-linked mutant GARS is toxic to peripheral neurons independent of wild-type GARS levelsHereditary sensory neuropathy type IHereditary sensory and autonomic neuropathies: types II, III, and IVProgress in genetic studies of pain and analgesiaMutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type IIdentification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the Study of Canadian Genetic IsolatesHereditary sensory neuropathy type I: haplotype analysis shows founders in southern England and Europe.An overview of sphingolipid metabolism: from synthesis to breakdownMutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing lossTrafficking and Functions of Bioactive Sphingolipids: Lessons from Cells and Model MembranesMeasuring brain lipidsIdentification of dietary alanine toxicity and trafficking dysfunction in a Drosophila model of hereditary sensory and autonomic neuropathy type 1.Disruption of Sphingolipid Biosynthesis Blocks Phagocytosis of Candida albicansA global in vivo Drosophila RNAi screen identifies a key role of ceramide phosphoethanolamine for glial ensheathment of axonsAn Inversion Disrupting FAM134B Is Associated with Sensory Neuropathy in the Border Collie Dog BreedThe External Aldimine Form of Serine Palmitoyltransferase: STRUCTURAL, KINETIC, AND SPECTROSCOPIC ANALYSIS OF THE WILD-TYPE ENZYME AND HSAN1 MUTANT MIMICSStructural insights into the enzymatic mechanism of serine palmitoyltransferase from Sphingobacterium multivorumSphingolipids as cell fate regulators in lung development and diseaseHereditary sensory neuropathy is caused by a mutation in the delta subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct4 ) geneHSAN1 mutations in serine palmitoyltransferase reveal a close structure-function-phenotype relationship.The tumor suppressor cybL, a component of the respiratory chain, mediates apoptosis inductionClassification and diagnosis of the inherited neuropathies.An introduction to sphingolipid metabolism and analysis by new technologiesHereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipids.Multi-system disorders of glycosphingolipid and ganglioside metabolismMutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy.A locus for hereditary sensory neuropathy with cough and gastroesophageal reflux on chromosome 3p22-p24.Mutation of CERKL, a novel human ceramide kinase gene, causes autosomal recessive retinitis pigmentosa (RP26).A disease-causing mutation in the active site of serine palmitoyltransferase causes catalytic promiscuityDe novo sphingolipid biosynthesis: a necessary, but dangerous, pathway.Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I.Hereditary sensory neuropathy type 1 mutations confer dominant negative effects on serine palmitoyltransferase, critical for sphingolipid synthesis.Oral L-serine supplementation reduces production of neurotoxic deoxysphingolipids in mice and humans with hereditary sensory autonomic neuropathy type 1.Mechanisms of disease in hereditary sensory and autonomic neuropathies.The topology of the Lcb1p subunit of yeast serine palmitoyltransferase.Clinical, pathological and genetic characterization of hereditary sensory and autonomic neuropathy type 1 (HSAN I).Cloning and initial characterization of a new subunit for mammalian serine-palmitoyltransferase.Molecular characterization of membrane-associated soluble serine palmitoyltransferases from Sphingobacterium multivorum and Bdellovibrio stolpiiMolecular aspects of pain research.Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation.
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P2860
Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I
description
2001 nî lūn-bûn
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2001 թուականի Մարտին հրատարակուած գիտական յօդուած
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2001 թվականի մարտին հրատարակված գիտական հոդված
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2001年の論文
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2001年論文
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2001年論文
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2001年論文
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2001年論文
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2001年論文
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2001年论文
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name
Mutations in SPTLC1, encoding ...... tary sensory neuropathy type I
@ast
Mutations in SPTLC1, encoding ...... tary sensory neuropathy type I
@en
Mutations in SPTLC1, encoding ...... tary sensory neuropathy type I
@nl
type
label
Mutations in SPTLC1, encoding ...... tary sensory neuropathy type I
@ast
Mutations in SPTLC1, encoding ...... tary sensory neuropathy type I
@en
Mutations in SPTLC1, encoding ...... tary sensory neuropathy type I
@nl
prefLabel
Mutations in SPTLC1, encoding ...... tary sensory neuropathy type I
@ast
Mutations in SPTLC1, encoding ...... tary sensory neuropathy type I
@en
Mutations in SPTLC1, encoding ...... tary sensory neuropathy type I
@nl
P2093
P3181
P356
P1433
P1476
Mutations in SPTLC1, encoding ...... tary sensory neuropathy type I
@en
P2093
G A Nicholson
J L Dawkins
M Auer-Grumbach
S B Brahmbhatt
P2888
P304
P3181
P356
10.1038/85879
P407
P577
2001-03-01T00:00:00Z