Mutant SPTLC1 dominantly inhibits serine palmitoyltransferase activity in vivo and confers an age-dependent neuropathy
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Identification of small subunits of mammalian serine palmitoyltransferase that confer distinct acyl-CoA substrate specificitiesAn overview of sphingolipid metabolism: from synthesis to breakdownTrafficking and Functions of Bioactive Sphingolipids: Lessons from Cells and Model MembranesIdentification of dietary alanine toxicity and trafficking dysfunction in a Drosophila model of hereditary sensory and autonomic neuropathy type 1.The 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 multivorumSPTLC1 binds ABCA1 to negatively regulate trafficking and cholesterol efflux activity of the transporterIdentification of sphingolipid metabolites that induce obesity via misregulation of appetite, caloric intake and fat storage in DrosophilaHSAN1 mutations in serine palmitoyltransferase reveal a close structure-function-phenotype relationship.Minimal peroxide exposure of neuronal cells induces multifaceted adaptive responsesHereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipids.A disease-causing mutation in the active site of serine palmitoyltransferase causes catalytic promiscuityOral 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.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 stolpiiOverexpression of the wild-type SPT1 subunit lowers desoxysphingolipid levels and rescues the phenotype of HSAN1L-Serine Deficiency Elicits Intracellular Accumulation of Cytotoxic Deoxysphingolipids and Lipid Body Formation.Cardiomyocyte specific deficiency of serine palmitoyltransferase subunit 2 reduces ceramide but leads to cardiac dysfunction.Substrate Availability of Mutant SPT Alters Neuronal Branching and Growth Cone Dynamics in Dorsal Root GangliaDisruption of sphingolipid metabolism elicits apoptosis-associated reproductive defects in Drosophila.Molecular genetics of hereditary sensory neuropathies.Ceramide signaling in cancer and stem cells.Increased lipid droplet accumulation associated with a peripheral sensory neuropathy.Sphingolipid De Novo Biosynthesis: A Rheostat of Cardiovascular Homeostasis.Prediction of Metabolic Gene Biomarkers for Neurodegenerative Disease by an Integrated Network-Based Approach.Endotoxin activates de novo sphingolipid biosynthesis via nuclear factor kappa B-mediated upregulation of Sptlc2.Mitochondrial protein alterations in a familial peripheral neuropathy caused by the V144D amino acid mutation in the sphingolipid protein, SPTLC1.Alterations in neuronal gene expression profiles in response to experimental demyelination and axonal transection.
P2860
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P2860
Mutant SPTLC1 dominantly inhibits serine palmitoyltransferase activity in vivo and confers an age-dependent neuropathy
description
2005 nî lūn-bûn
@nan
2005 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
Mutant SPTLC1 dominantly inhib ...... rs an age-dependent neuropathy
@ast
Mutant SPTLC1 dominantly inhib ...... rs an age-dependent neuropathy
@en
Mutant SPTLC1 dominantly inhib ...... rs an age-dependent neuropathy
@nl
type
label
Mutant SPTLC1 dominantly inhib ...... rs an age-dependent neuropathy
@ast
Mutant SPTLC1 dominantly inhib ...... rs an age-dependent neuropathy
@en
Mutant SPTLC1 dominantly inhib ...... rs an age-dependent neuropathy
@nl
prefLabel
Mutant SPTLC1 dominantly inhib ...... rs an age-dependent neuropathy
@ast
Mutant SPTLC1 dominantly inhib ...... rs an age-dependent neuropathy
@en
Mutant SPTLC1 dominantly inhib ...... rs an age-dependent neuropathy
@nl
P2093
P356
P1476
Mutant SPTLC1 dominantly inhib ...... rs an age-dependent neuropathy
@en
P2093
Alexander McCampbell
Andrew Allchorne
Clifford J Woolf
Daniel C Broom
David Truong
Jeffrey M Harmon
Matthew P Frosch
Roy G Cutler
Teresa M Dunn
P304
P356
10.1093/HMG/DDI380
P407
P577
2005-11-15T00:00:00Z