Use of transmitochondrial cybrids to assign a complex I defect to the mitochondrial DNA-encoded NADH dehydrogenase subunit 6 gene mutation at nucleotide pair 14459 that causes Leber hereditary optic neuropathy and dystonia.
about
Mitochondria and dystonia: the movement disorder connection?Mutation in mitochondrial complex I ND6 subunit is associated with defective response to hypoxia in human glioma cellsCytoplasmic hybrid (cybrid) cell lines as a practical model for mitochondriopathiesDe novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiencyThe mtDNA-encoded ND6 subunit of mitochondrial NADH dehydrogenase is essential for the assembly of the membrane arm and the respiratory function of the enzyme.Mitochondrial Function in Allergic Disease.Mitochondria in cybrids containing mtDNA from persons with mitochondriopathies.Clinical and molecular features of an infant patient affected by Leigh Disease associated to m.14459G>A mitochondrial DNA mutation: a case reportProduction of transmitochondrial cybrids containing naturally occurring pathogenic mtDNA variants.Mitochondrial oxidative phosphorylation in autosomal dominant optic atrophy.Pediatric-onset dystonia associated with bilateral striatal necrosis and G14459A mutation in a Korean family: a case report.Mitochondrial disorders and the eye.Inherited mitochondrial DNA variants can affect complement, inflammation and apoptosis pathways: insights into mitochondrial-nuclear interactions.Identification of novel mitochondrial mutations in Leber's hereditary optic neuropathyNuclear DNA origin of mitochondrial complex I deficiency in fatal infantile lactic acidosis evidenced by transnuclear complementation of cultured fibroblasts.Mitochondrial oxidative phosphorylation compensation may preserve vision in patients with OPA1-linked autosomal dominant optic atrophy.The neurodegenerative mitochondriopathies.Specific elimination of mutant mitochondrial genomes in patient-derived cells by mitoTALENs.Mitochondrial DNA variant associated with Leber hereditary optic neuropathy and high-altitude Tibetans.Mitochondrial defects in neurodegenerative disease.Mitochondrial cardiomyopathies: how to identify candidate pathogenic mutations by mitochondrial DNA sequencing, MITOMASTER and phylogenyCell and animal models of mtDNA biology: progress and prospects.The use of mitochondria-targeted endonucleases to manipulate mtDNAMolecular and bioenergetic differences between cells with African versus European inherited mitochondrial DNA haplogroups: implications for population susceptibility to diseases.Bioenergetic origins of complexity and disease.The Potential Application of Mitochondrial Medicine in Toxicologic Poisoning.Mitochondrial DNA variants can mediate methylation status of inflammation, angiogenesis and signaling genes.In vivo control of respiration by cytochrome c oxidase in wild-type and mitochondrial DNA mutation-carrying human cells.A case of mitochondrial cytopathy with exertion induced dystonia.Leber hereditary optic neuropathy and oxidative stress.Mouse mtDNA mutant model of Leber hereditary optic neuropathy.Mitochondrial complex I: structure, function and pathology.Ancient mtDNA sequences in the human nuclear genome: a potential source of errors in identifying pathogenic mutations.Tight control of respiration by NADH dehydrogenase ND5 subunit gene expression in mouse mitochondria.Respiratory complex I dysfunction due to mitochondrial DNA mutations shifts the voltage threshold for opening of the permeability transition pore toward resting levels.Clinical, genetic, and biochemical characterization of a Leber hereditary optic neuropathy family containing both the 11778 and 14484 primary mutations.Functional analysis of lymphoblast and cybrid mitochondria containing the 3460, 11778, or 14484 Leber's hereditary optic neuropathy mitochondrial DNA mutation.Sequence variation in mitochondrial complex I genes: mutation or polymorphism?Auditory function in individuals within Leber's hereditary optic neuropathy pedigrees.Mitochondrial DNA nucleotide changes C14482G and C14482A in the ND6 gene are pathogenic for Leber's hereditary optic neuropathy.
P2860
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P2860
Use of transmitochondrial cybrids to assign a complex I defect to the mitochondrial DNA-encoded NADH dehydrogenase subunit 6 gene mutation at nucleotide pair 14459 that causes Leber hereditary optic neuropathy and dystonia.
description
1996 nî lūn-bûn
@nan
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
1996年论文
@zh
1996年论文
@zh-cn
name
Use of transmitochondrial cybr ...... optic neuropathy and dystonia.
@ast
Use of transmitochondrial cybr ...... optic neuropathy and dystonia.
@en
type
label
Use of transmitochondrial cybr ...... optic neuropathy and dystonia.
@ast
Use of transmitochondrial cybr ...... optic neuropathy and dystonia.
@en
prefLabel
Use of transmitochondrial cybr ...... optic neuropathy and dystonia.
@ast
Use of transmitochondrial cybr ...... optic neuropathy and dystonia.
@en
P2093
P2860
P356
P1476
Use of transmitochondrial cybr ...... optic neuropathy and dystonia.
@en
P2093
D C Wallace
I A Trounce
J M Shoffner
P2860
P304
P356
10.1128/MCB.16.3.771
P407
P577
1996-03-01T00:00:00Z