Mitochondrial DNA depletion syndromes--many genes, common mechanisms.
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A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvementAAV-mediated liver-specific MPV17 expression restores mtDNA levels and prevents diet-induced liver failureMutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenanceMitochondrial disease in childhood: nuclear encodedMitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic optionsReplication proteins and human diseasePCR-Based Analysis of Mitochondrial DNA Copy Number, Mitochondrial DNA Damage, and Nuclear DNA DamageMitochondrial genomic variation associated with higher mitochondrial copy number: the Cache County Study on Memory Health and AgingLimited dCTP availability accounts for mitochondrial DNA depletion in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)Mitochondrial encephalomyopathies--fifty years on: the Robert Wartenberg LectureRecurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy NumberMitochondrial encephalomyopathy and retinoblastoma explained by compound heterozygosity of SUCLA2 point mutation and 13q14 deletion.Genome-wide analysis reveals coating of the mitochondrial genome by TFAM.MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle.Loss of mitochondrial peptidase Clpp leads to infertility, hearing loss plus growth retardation via accumulation of CLPX, mtDNA and inflammatory factors.Gene expression deregulation in postnatal skeletal muscle of TK2 deficient mice reveals a lower pool of proliferating myogenic progenitor cells.Co-occurrence of four nucleotide changes associated with an adult mitochondrial ataxia phenotype.PCR based determination of mitochondrial DNA copy number in multiple speciesA review comparing deoxyribonucleoside triphosphate (dNTP) concentrations in the mitochondrial and cytoplasmic compartments of normal and transformed cellsNovel large-range mitochondrial DNA deletions and fatal multisystemic disorder with prominent hepatopathyClustering of Alpers disease mutations and catalytic defects in biochemical variants reveal new features of molecular mechanism of the human mitochondrial replicase, Pol γ.Mitochondrial DNA Depletion and Deletions in Paediatric Patients with Neuromuscular Diseases: Novel Phenotypes.Autophagy is induced through the ROS-TP53-DRAM1 pathway in response to mitochondrial protein synthesis inhibition.Mapping 136 pathogenic mutations into functional modules in human DNA polymerase γ establishes predictive genotype-phenotype correlations for the complete spectrum of POLG syndromes.Drug development for rare mitochondrial disordersAdult mitochondrial DNA depletion syndrome with mild manifestations.Mitochondrial-associated metabolic disorders: foundations, pathologies and recent progress.Two transgenic mouse models for β-subunit components of succinate-CoA ligase yielding pleiotropic metabolic alterationsScreen for abnormal mitochondrial phenotypes in mouse embryonic stem cells identifies a model for succinyl-CoA ligase deficiency and mtDNA depletion.Transcriptomic profiling of TK2 deficient human skeletal muscle suggests a role for the p53 signalling pathway and identifies growth and differentiation factor-15 as a potential novel biomarker for mitochondrial myopathies.The clinical maze of mitochondrial neurologyInfantile-onset disorders of mitochondrial replication and protein synthesis.Disturbed mitochondrial dynamics and neurodegenerative disorders.Quantitative Analysis of mtDNA Content in Formalin-Fixed Paraffin-Embedded Muscle Tissue.The GABA transaminase, ABAT, is essential for mitochondrial nucleoside metabolism.Fluorescence imaging of mitochondria in cultured skin fibroblasts: a useful method for the detection of oxidative phosphorylation defects.In vitro supplementation with deoxynucleoside monophosphates rescues mitochondrial DNA depletion.Effects of reduced mitochondrial DNA content on secondary mitochondrial toxicant exposure in Caenorhabditis elegans.Effects of 5'-fluoro-2-deoxyuridine on mitochondrial biology in Caenorhabditis elegansExpanding the phenotypic spectrum of Succinyl-CoA ligase deficiency through functional validation of a new SUCLG1 variant.
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Mitochondrial DNA depletion syndromes--many genes, common mechanisms.
description
article científic
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article scientifique
@fr
articolo scientifico
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artigo científico
@pt
bilimsel makale
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scientific article published on 04 May 2010
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vedecký článok
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vetenskaplig artikel
@sv
videnskabelig artikel
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vědecký článek
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name
Mitochondrial DNA depletion syndromes--many genes, common mechanisms.
@en
Mitochondrial DNA depletion syndromes--many genes, common mechanisms.
@nl
type
label
Mitochondrial DNA depletion syndromes--many genes, common mechanisms.
@en
Mitochondrial DNA depletion syndromes--many genes, common mechanisms.
@nl
prefLabel
Mitochondrial DNA depletion syndromes--many genes, common mechanisms.
@en
Mitochondrial DNA depletion syndromes--many genes, common mechanisms.
@nl
P1476
Mitochondrial DNA depletion syndromes--many genes, common mechanisms.
@en
P2093
Anu Suomalainen
Pirjo Isohanni
P304
P356
10.1016/J.NMD.2010.03.017
P577
2010-05-04T00:00:00Z