Kinetic properties of mutant deoxyguanosine kinase in a case of reversible hepatic mtDNA depletion
about
Mitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic optionsSURF1 deficiency causes demyelinating Charcot-Marie-Tooth diseaseNon-homologous recombination of deoxyribonucleoside kinases from human and Drosophila melanogaster yields human-like enzymes with novel activities.Mitochondrial mosaics in the liver of 3 infants with mtDNA defectsDefects in mitochondrial DNA replication and human diseaseNext-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions.Recurrent recessive mutation in deoxyguanosine kinase causes idiopathic noncirrhotic portal hypertension.Reduced mitochondrial DNA content and heterozygous nuclear gene mutations in patients with acute liver failure.Molecular mechanisms of mitochondrial DNA depletion diseases caused by deficiencies in enzymes in purine and pyrimidine metabolism.Potentially diagnostic electron paramagnetic resonance spectra elucidate the underlying mechanism of mitochondrial dysfunction in the deoxyguanosine kinase deficient rat model of a genetic mitochondrial DNA depletion syndromeGastrointestinal and hepatic manifestations of mitochondrial disorders.Molecular regulation of high muscle mass in developing Blonde d'Aquitaine cattle foetuses.A fatal case of mitochondrial DNA depletion syndrome with novel compound heterozygous variants in the deoxyguanosine kinase gene.Mitochondria DNA depletion syndrome in a infant with multiple congenital malformations, severe myopathy, and prolonged postoperative paralysis.Optic neuropathy, cardiomyopathy, cognitive disability in patients with a homozygous mutation in the nuclear MTO1 and a mitochondrial MT-TF variant.Mitochondrial Depletion Syndromes in Children and Adults
P2860
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P2860
Kinetic properties of mutant deoxyguanosine kinase in a case of reversible hepatic mtDNA depletion
description
2007 nî lūn-bûn
@nan
2007 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի մարտին 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
Kinetic properties of mutant d ...... rsible hepatic mtDNA depletion
@ast
Kinetic properties of mutant d ...... rsible hepatic mtDNA depletion
@en
Kinetic properties of mutant d ...... rsible hepatic mtDNA depletion
@nl
type
label
Kinetic properties of mutant d ...... rsible hepatic mtDNA depletion
@ast
Kinetic properties of mutant d ...... rsible hepatic mtDNA depletion
@en
Kinetic properties of mutant d ...... rsible hepatic mtDNA depletion
@nl
prefLabel
Kinetic properties of mutant d ...... rsible hepatic mtDNA depletion
@ast
Kinetic properties of mutant d ...... rsible hepatic mtDNA depletion
@en
Kinetic properties of mutant d ...... rsible hepatic mtDNA depletion
@nl
P2093
P2860
P356
P1433
P1476
Kinetic properties of mutant d ...... rsible hepatic mtDNA depletion
@en
P2093
Alain Lachaux
Bénédicte Mousson de Camaret
Dominique Bozon
Ginette Mandon
Martine Mayençon
Maïté Chassagne
Pascale Clerc-Renaud
Sylvie Padet
P2860
P304
P356
10.1042/BJ20060705
P407
P577
2007-03-01T00:00:00Z