Pages that link to "Q35606895"
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The following pages link to Modulation of the W748S mutation in DNA polymerase gamma by the E1143G polymorphismin mitochondrial disorders (Q35606895):
Displaying 50 items.
- Structural insight into processive human mitochondrial DNA synthesis and disease-related polymerase mutations (Q24336678) (← links)
- Mitochondrial DNA replication and disease: insights from DNA polymerase γ mutations (Q24612561) (← links)
- Mitochondrial disorders of DNA polymerase γ dysfunction: from anatomic to molecular pathology diagnosis (Q24614443) (← links)
- Alpers-Huttenlocher syndrome (Q26830373) (← links)
- MMS exposure promotes increased MtDNA mutagenesis in the presence of replication-defective disease-associated DNA polymerase γ variants (Q28544021) (← links)
- Pathogenicity in POLG syndromes: DNA polymerase gamma pathogenicity prediction server and database (Q30401750) (← links)
- Preparation of human mitochondrial single-stranded DNA-binding protein (Q33465045) (← links)
- POLG1 p.R722H mutation associated with multiple mtDNA deletions and a neurological phenotype (Q33570991) (← links)
- A mechanistic view of human mitochondrial DNA polymerase gamma: providing insight into drug toxicity and mitochondrial disease (Q33756066) (← links)
- Functional analysis of H. sapiens DNA polymerase gamma spacer mutation W748S with and without common variant E1143G. (Q33814578) (← links)
- Mitochondrial genome maintenance in health and disease. (Q33821051) (← links)
- mip1 containing mutations associated with mitochondrial disease causes mutagenesis and depletion of mtDNA in Saccharomyces cerevisiae (Q33832860) (← links)
- Functional analysis of mutant mitochondrial DNA polymerase proteins involved in human disease. (Q33918516) (← links)
- Molecular and clinical genetics of mitochondrial diseases due to POLG mutations (Q33936754) (← links)
- Purification and functional characterization of human mitochondrial DNA polymerase gamma harboring disease mutations. (Q33981661) (← links)
- Defects of mitochondrial DNA replication. (Q34098312) (← links)
- Defects in mitochondrial DNA replication and human disease (Q34241192) (← links)
- Inherited mitochondrial diseases of DNA replication (Q34692482) (← links)
- Polymorphisms in DNA polymerase γ affect the mtDNA stability and the NRTI-induced mitochondrial toxicity in Saccharomyces cerevisiae (Q35024623) (← links)
- Biochemical analysis of the G517V POLG variant reveals wild-type like activity (Q35501165) (← links)
- Clustering of Alpers disease mutations and catalytic defects in biochemical variants reveal new features of molecular mechanism of the human mitochondrial replicase, Pol γ. (Q35620870) (← links)
- Drug-resistant epilepsia and fulminant valproate liver toxicity. Alpers-Huttenlocher syndrome in two children confirmed post mortem by identification of p.W748S mutation in POLG gene (Q36516391) (← links)
- Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations (Q36794013) (← links)
- Clinical and molecular features of POLG-related mitochondrial disease. (Q36932851) (← links)
- Molecular diagnostics and mitochondrial dysfunction: a future perspective. (Q37206274) (← links)
- DNA polymerase gamma and mitochondrial disease: understanding the consequence of POLG mutations. (Q37325936) (← links)
- Disease mutations in the human mitochondrial DNA polymerase thumb subdomain impart severe defects in mitochondrial DNA replication (Q37339326) (← links)
- Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohort (Q37636721) (← links)
- The mitochondrial DNA polymerase in health and disease. (Q37651211) (← links)
- A transient kinetic approach to investigate nucleoside inhibitors of mitochondrial DNA polymerase gamma (Q37767303) (← links)
- Polymerase gamma disease through the ages (Q37785515) (← links)
- The importance of mitochondria in age-related and inherited eye disorders. (Q37786972) (← links)
- A brief review on human mtDNA mutations and NRTI-associated mtDNA toxicity and mutations (Q38248322) (← links)
- Mitochondrial DNA maintenance: an appraisal (Q38569294) (← links)
- Inherited mitochondrial genomic instability and chemical exposures (Q38649815) (← links)
- Polymerase γ gene POLG determines the risk of sodium valproate-induced liver toxicity (Q41955951) (← links)
- Reversible valproate hepatotoxicity due to mutations in mitochondrial DNA polymerase γ (POLG1) (Q42122293) (← links)
- Molecular pathogenesis of polymerase γ-related neurodegeneration (Q42828340) (← links)
- A role for mitochondria in gestational diabetes mellitus? (Q44890093) (← links)
- Association of downregulated HDAC 2 with the impaired mitochondrial function and cytokine secretion in the monocytes/macrophages from gestational diabetes mellitus patients (Q46586323) (← links)
- Do carriers of POLG mutation W748S have disease manifestations? (Q46982289) (← links)
- The spectrum of epilepsy caused by POLG mutations (Q48113427) (← links)
- Synergistic Effects of the in cis T251I and P587L Mitochondrial DNA Polymerase γ Disease Mutations. (Q51155555) (← links)
- Acute liver failure after valproate exposure in patients with POLG1 mutations and the prognosis after liver transplantation. (Q54334767) (← links)
- Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion. (Q54798811) (← links)
- Screening for POLG1 mutations in a Southern Italian ataxia population (Q80201369) (← links)
- POLG exon 22 skipping induced by different mechanisms in two unrelated cases of Alpers syndrome (Q84689191) (← links)
- Mitochondrial DNA Variation and Heteroplasmy in Monozygotic Twins Clinically Discordant for Multiple Sclerosis (Q89306618) (← links)
- Essential genetic findings in neurodevelopmental disorders (Q91750862) (← links)
- POLG-related disorders and their neurological manifestations (Q93209103) (← links)