Mitochondrial DNA background modifies the bioenergetics of NARP/MILS ATP6 mutant cells [PDF]
Human Molecular Genetics, 2009 Mutations in the mitochondrial DNA (mtDNA) encoded subunit 6 of ATPase (ATP6) are associated with variable disease expression, ranging from adult onset neuropathy, ataxia and retinitis pigmentosa (NARP) to fatal childhood maternally inherited Leigh's syndrome (MILS). Phenotypical variations have largely been attributed to mtDNA heteroplasmy.
M, D'Aurelio +3 more
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Jurnal Veteriner, 2013 In a conservation effort, the identification of Tarsier species, on the bases of the morphological andmolecular characteristic is necessary. Up to now, the identification of the animals were based on themorphology and vocalizations, which is extremely ...
Rini Widayanti +2 more
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Generation of a human iPSC line from a patient with Leigh syndrome caused by a mutation in the MT-ATP6 gene [PDF]
Stem Cell Research, 2016 Human iPSC line L749.1 was generated from fibroblasts of a patient with Leigh syndrome associated with a heteroplasmic mutation in the MT-ATP6 gene. Reprogramming factors OCT4, SOX2, CMYC and KLF4 were delivered using retroviruses.
Teresa Galera-Monge +7 more
doaj +2 more sources
The mitochondrial genome assembly of fennel (Foeniculum vulgare) reveals two different atp6 gene sequences in cytoplasmic male sterile accessions [PDF]
, 2020 Cytoplasmic male sterility (CMS) has always aroused interest among researchers and breeders, being a valuable resource widely exploited not only to breed F1 hybrid varieties but also to investigate genes that control stamen and pollen development.
Barcaccia G. +4 more
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A Single Homogeneous Form of ATP6 Protein Accumulates in Petunia Mitochondria despite the Presence of Differentially Edited atp6 Transcripts [PDF]
The Plant Cell, 1994 Transcripts encoding ATP synthase subunit 6 (ATP6) in petunia mitochondria were shown to be edited at 15 sites, leading to 14 amino acid changes. Certain sites are partially edited, including a site that introduces a new translation termination codon that is 13 codons upstream of the genomically encoded stop codon.
B, Lu, M R, Hanson
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Mutations in MT-ATP6 are a frequent cause of adult-onset spinocerebellar ataxia [PDF]
Journal of Neurology, 2021 AbstractAdult-onset ataxias are a genetically and clinically heterogeneous group of movement disorders. In addition to nuclear gene mutations, sequence changes have also been described in the mitochondrial genome. Here, we present findings of mutation analysis of the mitochondrial gene MT-ATP6.
Nolte, Dagmar +6 more
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Probing the pathogenicity of patient-derived variants of MT-ATP6 in yeast
Disease Models & Mechanisms, 2023 ABSTRACT The list of mitochondrial DNA (mtDNA) variants detected in individuals with neurodegenerative diseases is constantly growing. Evaluating their functional consequences and pathogenicity is not easy, especially when they are found in only a limited number of patients together with wild-type mtDNA (heteroplasmy).
Emilia Baranowska +8 more
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Threshold of heteroplasmic truncating MT-ATP6 mutation in reprogramming, Notch hyperactivation and motor neuron metabolism [PDF]
, 2021 Mutations in mitochondrial DNA encoded subunit of ATP synthase, MT-ATP6, are frequent causes of neurological mitochondrial diseases with a range of phenotypes from Leigh syndrome and NARP to ataxias and neuropathies.
Huber, Nadine +33 more
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