Leber's hereditary optic neuropathy: biochemical effect of 11778/ND4 and 3460/ND1 mutations and correlation with the mitochondrial genotype.
about
Mitochondrial complex I and cell death: a semi-automatic shotgun modelMitochondrial geneticsMutants of Chlamydomonas reinhardtii deficient in mitochondrial complex I: characterization of two mutations affecting the nd1 coding sequenceFunctional Characterization of Three Concomitant MtDNA LHON Mutations Shows No Synergistic Effect on Mitochondrial ActivityRare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathyMitochondrial DNA mutations and mitochondrial dysfunction in epilepsy.Previous estimates of mitochondrial DNA mutation level variance did not account for sampling error: comparing the mtDNA genetic bottleneck in mice and humans.Leber hereditary optic neuropathyMitochondrial optic neuropathies - disease mechanisms and therapeutic strategies.Leber's hereditary optic neuropathy differentially affects smaller axons in the optic nerve.Mitochondrial DNA variant associated with Leber hereditary optic neuropathy and high-altitude Tibetans.The optic nerve: a "mito-window" on mitochondrial neurodegenerationA very large Brazilian pedigree with 11778 Leber's hereditary optic neuropathyHaplogroup effects and recombination of mitochondrial DNA: novel clues from the analysis of Leber hereditary optic neuropathy pedigrees.LHON: Mitochondrial Mutations and More.Bioenergetic origins of complexity and disease.Assessing heteroplasmic load in Leber's hereditary optic neuropathy mutation 3460G->A/MT-ND1 with a real-time PCR quantitative approach.Colour vision defects in asymptomatic carriers of the Leber's hereditary optic neuropathy (LHON) mtDNA 11778 mutation from a large Brazilian LHON pedigree: a case-control study.Mouse mtDNA mutant model of Leber hereditary optic neuropathy.Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneckPreventing the transmission of pathogenic mitochondrial DNA mutations: Can we achieve long-term benefits from germ-line gene transfer?Inherited mitochondrial optic neuropathies.Generation of reactive oxygen species by mitochondrial complex I: implications in neurodegeneration.Clinical features of MS associated with Leber hereditary optic neuropathy mtDNA mutations.Antioxidants partially restore glutamate transport defect in leber hereditary optic neuropathy cybrids.Cells bearing mutations causing Leber's hereditary optic neuropathy are sensitized to Fas-Induced apoptosis.Functional analysis of lymphoblast and cybrid mitochondria containing the 3460, 11778, or 14484 Leber's hereditary optic neuropathy mitochondrial DNA mutation.Bottom-up proteomics suggests an association between differential expression of mitochondrial proteins and chronic fatigue syndrome.Depletion of mitochondrial DNA in leucocytes harbouring the 3243A->G mtDNA mutation.Superoxide generation explains common features of optic neuropathies associated with cecocentral scotomas.Mitochondrial DNA C4171A/ND1 is a novel primary causative mutation of Leber's hereditary optic neuropathy with a good prognosis.Leber's hereditary optic neuropathy (LHON) pathogenic mutations induce mitochondrial-dependent apoptotic death in transmitochondrial cells incubated with galactose medium.The ND1 gene of complex I is a mutational hot spot for Leber's hereditary optic neuropathy.Antioxidant defences in cybrids harboring mtDNA mutations associated with Leber's hereditary optic neuropathy.Leber Hereditary Optic Neuropathy: Exemplar of an mtDNA Disease.Mitochondrial genetics and therapeutic overview of Leber's hereditary optic neuropathy.Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber's hereditary optic neuropathy.Catalytic Activities of Mitochondrial ATP Synthase in Patients with Mitochondrial DNA T8993G Mutation in the ATPase 6 Gene Encoding SubunitamtDNA Population Variants and Neurodegenerative Diseases
P2860
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P2860
Leber's hereditary optic neuropathy: biochemical effect of 11778/ND4 and 3460/ND1 mutations and correlation with the mitochondrial genotype.
description
1997 nî lūn-bûn
@nan
1997年の論文
@ja
1997年学术文章
@wuu
1997年学术文章
@zh
1997年学术文章
@zh-cn
1997年学术文章
@zh-hans
1997年学术文章
@zh-my
1997年学术文章
@zh-sg
1997年學術文章
@yue
1997年學術文章
@zh-hant
name
Leber's hereditary optic neuro ...... th the mitochondrial genotype.
@en
Leber's hereditary optic neuro ...... th the mitochondrial genotype.
@nl
type
label
Leber's hereditary optic neuro ...... th the mitochondrial genotype.
@en
Leber's hereditary optic neuro ...... th the mitochondrial genotype.
@nl
prefLabel
Leber's hereditary optic neuro ...... th the mitochondrial genotype.
@en
Leber's hereditary optic neuro ...... th the mitochondrial genotype.
@nl
P2093
P356
P1433
P1476
Leber's hereditary optic neuro ...... th the mitochondrial genotype.
@en
P2093
Bacchilega E
Cortelli P
Degli Esposti M
Lugaresi E
Montagna P
Sangiorgi S
P304
P356
10.1212/WNL.48.6.1623
P407
P577
1997-06-01T00:00:00Z