Deficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion
about
Mitochondrial translation and beyond: processes implicated in combined oxidative phosphorylation deficienciesLoss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial diseaseGenes and Pathways Involved in Adult Onset Disorders Featuring Muscle Mitochondrial DNA InstabilityMitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic optionsStructural basis for the binding of succinate to succinyl-CoA synthetaseBiochemical diagnosis of mitochondrial disordersGDP + Orthophosphate + Succinyl-CoA <=> GTP + Succinate + CoAThymidine kinase 2 (H126N) knockin mice show the essential role of balanced deoxynucleotide pools for mitochondrial DNA maintenance.The in-depth evaluation of suspected mitochondrial diseaseSuccinyl-CoA ligase deficiency: a mitochondrial hepatoencephalomyopathy.Deoxypyrimidine monophosphate bypass therapy for thymidine kinase 2 deficiency.Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2.Exclusive neuronal expression of SUCLA2 in the human brain.Linear mtDNA fragments and unusual mtDNA rearrangements associated with pathological deficiency of MGME1 exonuclease.Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.Early-onset liver mtDNA depletion and late-onset proteinuric nephropathy in Mpv17 knockout mice.Mitochondrial DNA Depletion and Deletions in Paediatric Patients with Neuromuscular Diseases: Novel Phenotypes.MPV17 Loss Causes Deoxynucleotide Insufficiency and Slow DNA Replication in MitochondriaA novel homozygous mutation in SUCLA2 gene identified by exome sequencing.Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics.Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations.Functional cellular analyses reveal energy metabolism defect and mitochondrial DNA depletion in a case of mitochondrial aconitase deficiency.SUCLA2 Deficiency: A Deafness-Dystonia Syndrome with Distinctive Metabolic Findings (Report of a New Patient and Review of the Literature).Reduced mitochondrial DNA content and heterozygous nuclear gene mutations in patients with acute liver failure.Mitochondrial disease in pregnancy: a systematic review.Molecular diagnostics and mitochondrial dysfunction: a future perspective.Approaches to finding the molecular basis of mitochondrial oxidative phosphorylation disorders.A SUCLG1 mutation in a patient with mitochondrial DNA depletion and congenital anomaliesMitochondrial DNA depletion syndrome due to mutations in the RRM2B geneScreen for abnormal mitochondrial phenotypes in mouse embryonic stem cells identifies a model for succinyl-CoA ligase deficiency and mtDNA depletion.Syndromes associated with mitochondrial DNA depletion.Mechanisms of mitochondrial diseases.Impaired TCA cycle flux in mitochondria in skeletal muscle from type 2 diabetic subjects: marker or maker of the diabetic phenotype?Gastrointestinal and hepatic manifestations of mitochondrial disorders.The GABA transaminase, ABAT, is essential for mitochondrial nucleoside metabolism.Mitochondrial purine and pyrimidine metabolism and beyond.MtDNA-maintenance defects: syndromes and genes.Expanding the phenotypic spectrum of Succinyl-CoA ligase deficiency through functional validation of a new SUCLG1 variant.Hepatocerebral form of mitochondrial DNA depletion syndrome due to mutation in MPV17 geneHearing loss in a patient with the myopathic form of mitochondrial DNA depletion syndrome and a novel mutation in the TK2 gene.
P2860
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P2860
Deficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion
description
2007 nî lūn-bûn
@nan
2007 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
Deficiency of the alpha subuni ...... th mitochondrial DNA depletion
@ast
Deficiency of the alpha subuni ...... th mitochondrial DNA depletion
@en
Deficiency of the alpha subuni ...... th mitochondrial DNA depletion
@nl
type
label
Deficiency of the alpha subuni ...... th mitochondrial DNA depletion
@ast
Deficiency of the alpha subuni ...... th mitochondrial DNA depletion
@en
Deficiency of the alpha subuni ...... th mitochondrial DNA depletion
@nl
prefLabel
Deficiency of the alpha subuni ...... th mitochondrial DNA depletion
@ast
Deficiency of the alpha subuni ...... th mitochondrial DNA depletion
@en
Deficiency of the alpha subuni ...... th mitochondrial DNA depletion
@nl
P2093
P2860
P356
P1476
Deficiency of the alpha subuni ...... th mitochondrial DNA depletion
@en
P2093
Bodil Mogensen
Elisabeth Kristensen
Elsebet Ostergaard
Eric A Shoubridge
Ernst Christensen
Flemming Wibrand
Morten Duno
P2860
P356
10.1086/519222
P407
P577
2007-08-01T00:00:00Z