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Article

Multiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase gamma (POLG1) mutations

6 Sept 2006

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 16957900
DOI: 10.1007/s00431-006-0234-9

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Related research

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Multiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase gamma (POLG1) mutationsPMID 16957900Read ↗

Polymerase gamma-related mitochondrial disorder.Semantic proximity Read ↗

The disease-causing mutation p.F907I reveals a novel pathogenic mechanism for POLγ-related diseases.Semantic proximity Read ↗

Normal biochemical analysis of the oxidative phosphorylation (OXPHOS) system in a child with POLG mutations: a cautionary note.Semantic proximity Read ↗

Mitochondrial DNA polymerase-gamma and human disease.Semantic proximity Read ↗

Polymerase gamma disease through the ages.Semantic proximity Read ↗

A multi-systemic mitochondrial disorder due to a dominant p.Y955H disease variant in DNA polymerase gamma.Semantic proximity Read ↗

Heterozygous p.Y955C mutation in DNA polymerase γ leads to alterations in bioenergetics, complex I subunit expression, and mtDNA replication.Semantic proximity Read ↗

The POLG Variant c.678G>C; p.(Gln226His) Is Associated with Mitochondrial Dysfunction in Patient-Derived FibroblastsSemantic proximity Read ↗

Oxidative and Energy Metabolism as Potential Clues for Clinical Heterogeneity in Nucleotide Excision Repair DisordersSemantic proximity Read ↗

Clinical and molecular features of POLG-related mitochondrial disease.Semantic proximity Read ↗

Mapping 136 pathogenic mutations into functional modules in human DNA polymerase γ establishes predictive genotype-phenotype correlations for the complete spectrum of POLG syndromes.Semantic proximity Read ↗

Mitochondrial DNA replication and disease: insights from DNA polymerase γ mutations.Semantic proximity Read ↗

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