Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration
about
FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathyClinical, biochemical and metabolic characterisation of a mild form of human short-chain enoyl-CoA hydratase deficiency: significance of increased N-acetyl-S-(2-carboxypropyl)cysteine excretionDeficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.Cockayne syndrome group B protein promotes mitochondrial DNA stability by supporting the DNA repair association with the mitochondrial membrane.Acyl-CoA thioesterase 9 (ACOT9) in mouse may provide a novel link between fatty acid and amino acid metabolism in mitochondria.Combining comparative proteomics and molecular genetics uncovers regulators of synaptic and axonal stability and degeneration in vivoHIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase.Enzymology of the branched-chain amino acid oxidation disorders: the valine pathwayClinical and biochemical characterization of four patients with mutations in ECHS1.Spectrum of combined respiratory chain defects.Successful diagnosis of HIBCH deficiency from exome sequencing and positive retrospective analysis of newborn screening cards in two siblings presenting with Leigh's diseaseA Common Polymorphism in HIBCH Influences Methylmalonic Acid Concentrations in Blood Independently of CobalaminLeigh syndrome: One disorder, more than 75 monogenic causes.Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiency.Enzymes involved in branched-chain amino acid metabolism in humans.Sustained complete response to CTLA-4 blockade in a patient with metastatic, castration-resistant prostate cancer.Proteomic mapping of differentially vulnerable pre-synaptic populations identifies regulators of neuronal stability in vivoClinical and biochemical characterization of 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency that causes Leigh-like disease and ketoacidosis.An altered redox balance mediates the hypersensitivity of Cockayne syndrome primary fibroblasts to oxidative stress.Enzymatic testing sensitivity, variability and practical diagnostic algorithm for pyruvate dehydrogenase complex (PDC) deficiency.Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome.3-Hydroxyisobutyryl-CoA hydrolase involved in isoleucine catabolism regulates triacylglycerol accumulation in Phaeodactylum tricornutum.A movement disorder with dystonia and ataxia caused by a mutation in the HIBCH gene.HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disorders.Disorders of branched chain amino acid metabolism.Clinical, biochemical, and genetic features of four patients with short-chain enoyl-CoA hydratase (ECHS1) deficiency.
P2860
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P2860
Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration
description
2006 nî lūn-bûn
@nan
2006 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
Mutations in the gene encoding ...... ve infantile neurodegeneration
@ast
Mutations in the gene encoding ...... ve infantile neurodegeneration
@en
Mutations in the gene encoding ...... ve infantile neurodegeneration
@nl
type
label
Mutations in the gene encoding ...... ve infantile neurodegeneration
@ast
Mutations in the gene encoding ...... ve infantile neurodegeneration
@en
Mutations in the gene encoding ...... ve infantile neurodegeneration
@nl
prefLabel
Mutations in the gene encoding ...... ve infantile neurodegeneration
@ast
Mutations in the gene encoding ...... ve infantile neurodegeneration
@en
Mutations in the gene encoding ...... ve infantile neurodegeneration
@nl
P2093
P2860
P356
P1476
Mutations in the gene encoding ...... ve infantile neurodegeneration
@en
P2093
Carlos Desousa
Ference J Loupatty
Garry K Brown
Jos P N Ruiter
Lodewijk Ijlst
Marinus Duran
Peter T Clayton
Robert A Harris
Simon J R Heales
P2860
P304
P356
10.1086/510725
P407
P577
2006-11-30T00:00:00Z