Hereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipids. - Wikidata - wikimedia - TriplyDB

Hereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipids.

Hereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipids.

http://www.wikidata.org/entity/Q33799614

about

Charcot-Marie-Tooth-linked mutant GARS is toxic to peripheral neurons independent of wild-type GARS levels Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I 1-Deoxysphingolipids Encountered Exogenously and Made de Novo: Dangerous Mysteries inside an Enigma The human plasma lipidome Identification of dietary alanine toxicity and trafficking dysfunction in a Drosophila model of hereditary sensory and autonomic neuropathy type 1.Elevation of 20-carbon long chain bases due to a mutation in serine palmitoyltransferase small subunit b results in neurodegeneration Quantitative Profiling of Long-Chain Bases by Mass Tagging and Parallel Reaction Monitoring Ectopic expression of ceramide synthase 2 in neurons suppresses neurodegeneration induced by ceramide synthase 1 deficiency HSAN1 mutations in serine palmitoyltransferase reveal a close structure-function-phenotype relationship.Elucidating the chemical structure of native 1-deoxysphingosine.Multi-system disorders of glycosphingolipid and ganglioside metabolism A disease-causing mutation in the active site of serine palmitoyltransferase causes catalytic promiscuity Deoxysphingoid bases as plasma markers in diabetes mellitus.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 yeast sphingolipid signaling landscape.An assessment of mechanisms underlying peripheral axonal degeneration caused by aminoacyl-tRNA synthetase mutations.Altered sphingoid base profiles in type 1 compared to type 2 diabetes.Expression of the ORMDLS, modulators of serine palmitoyltransferase, is regulated by sphingolipids in mammalian cells Distribution and functions of sterols and sphingolipids.Novel HSAN1 mutation in serine palmitoyltransferase resides at a putative phosphorylation site that is involved in regulating substrate specificity Sphingosine-1-phosphate receptor 2 Many ceramides.Plasma 1-deoxysphingolipids are predictive biomarkers for type 2 diabetes mellitus Sphingolipid and glycosphingolipid metabolic pathways in the era of sphingolipidomics.The debut of a rational treatment for an inherited neuropathy?Sphingoid bases and the serine catabolic enzyme CHA1 define a novel feedforward/feedback mechanism in the response to serine availability L-Serine Deficiency Elicits Intracellular Accumulation of Cytotoxic Deoxysphingolipids and Lipid Body Formation.Substrate Availability of Mutant SPT Alters Neuronal Branching and Growth Cone Dynamics in Dorsal Root Ganglia Neurotoxic 1-deoxysphingolipids and paclitaxel-induced peripheral neuropathy Metabolic Syndrome, Neurotoxic 1-Deoxysphingolipids and Nervous Tissue Inflammation in Chronic Idiopathic Axonal Polyneuropathy (CIAP)Ceramide sphingolipid signaling mediates Tumor Necrosis Factor (TNF)-dependent toxicity via caspase signaling in dopaminergic neurons.Topological and functional characterization of the ssSPTs, small activating subunits of serine palmitoyltransferase Viral serine palmitoyltransferase induces metabolic switch in sphingolipid biosynthesis and is required for infection of a marine alga Targeting the sphingosine kinase/sphingosine 1-phosphate pathway in disease: review of sphingosine kinase inhibitors.Solving the riddle of the sphinx may provide new insights into diabetes and polyneuropathy.Mutations at Ser331 in the HSN type I gene SPTLC1 are associated with a distinct syndromic phenotype Hereditary sensory and autonomic neuropathy type 1 (HSANI) caused by a novel mutation in SPTLC2.Plasma sphingolipids are biomarkers of metabolic syndrome in non-human primates maintained on a Western-style diet.Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort

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P2860

Hereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipids.

http://www.wikidata.org/entity/Q33799614

description

2010 nî lūn-bûn

@nan

2010 թուականի Յունուարին հրատարակուած գիտական յօդուած

@hyw

2010 թվականի հունվարին հրատարակված գիտական հոդված

@hy

2010年の論文

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2010年論文

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2010年論文

@zh-hant

2010年論文

@zh-hk

2010年論文

@zh-mo

2010年論文

@zh-tw

2010年论文

@wuu

name

Hereditary sensory neuropathy ...... two neurotoxic sphingolipids.

@ast

Hereditary sensory neuropathy ...... two neurotoxic sphingolipids.

@en

type

label

Hereditary sensory neuropathy ...... two neurotoxic sphingolipids.

@ast

Hereditary sensory neuropathy ...... two neurotoxic sphingolipids.

@en

prefLabel

Hereditary sensory neuropathy ...... two neurotoxic sphingolipids.

@ast

Hereditary sensory neuropathy ...... two neurotoxic sphingolipids.

@en

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JBC.M109.092973

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Journal of Biological Chemistry

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Hereditary sensory neuropathy ...... two neurotoxic sphingolipids.

@en

P2093

Anke Penno

http://www.w3.org/2001/XMLSchema#string

Esther T Stoeckli

http://www.w3.org/2001/XMLSchema#string

Florian Eichler

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Garth Nicholson

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Henry Houlden

http://www.w3.org/2001/XMLSchema#string

Katharina Rentsch

http://www.w3.org/2001/XMLSchema#string

Mary M Reilly

http://www.w3.org/2001/XMLSchema#string

Matilde Laurá

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Robert H Brown

http://www.w3.org/2001/XMLSchema#string

Thorsten Hornemann

http://www.w3.org/2001/XMLSchema#string

P2860

Hereditary sensory neuropathy type I

SPTLC1 is mutated in hereditary sensory neuropathy, type 1

Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I

SPTLC1 mutation in twin sisters with hereditary sensory neuropathy type I

Mutant SPTLC1 dominantly inhibits serine palmitoyltransferase activity in vivo and confers an age-dependent neuropathy

Serine palmitoyl-CoA transferase (SPT) deficiency and sphingolipid levels in mice

Mammalian Rho GTPases: new insights into their functions from in vivo studies

Mutations in the yeast LCB1 and LCB2 genes, including those corresponding to the hereditary sensory neuropathy type I mutations, dominantly inactivate serine palmitoyltransferase.

Hereditary sensory neuropathy type 1 mutations confer dominant negative effects on serine palmitoyltransferase, critical for sphingolipid synthesis.

Serine palmitoyltransferase, a key enzyme of sphingolipid metabolism.

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11178-11187

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scholarly article

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10.1074/JBC.M109.092973

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15

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285

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Arnold von Eckardstein

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2010-01-22T00:00:00Z

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20097765

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1-deoxymethylsphinganine(1+)

1-deoxysphinganine(1+)

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2856995

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