Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy
about
A mitochondrial DNA variant, identified in Leber hereditary optic neuropathy patients, which extends the amino acid sequence of cytochrome c oxidase subunit IGenetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystoniaLeber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigreesmtDNA and the origin of Caucasians: identification of ancient Caucasian-specific haplogroups, one of which is prone to a recurrent somatic duplication in the D-loop regionLeber's hereditary optic neuropathy in Indonesia: Two families with the mtDNA 11778G>A and 14484T>C mutationsMitochondrial NADH dehydrogenase polymorphisms are associated with breast cancer in Poland.Molecular biology of neurological diseases.mtDNA nt13708A variant increases the risk of multiple sclerosis.Hereditary optic neuropathies.The ophthalmologic manifestations of mitochondrial disease.Leber's hereditary optic neuropathy: correlations between mitochondrial genotype and visual outcome.Leber's hereditary optic neuropathy: the clinical relevance of different mitochondrial DNA mutations.Low penetrance of Leber's hereditary optic neuropathy in ten Han Chinese families carrying the ND6 T11484C mutationMitochondrial DNA analysis: polymorphisms and pathogenicityMitochondrial DNA sequence variation and haplogroup distribution in Chinese patients with LHON and m.14484T>CVery low penetrance of Leber's hereditary optic neuropathy in five Han Chinese families carrying the ND1 G3460A mutation.The deafness-associated mitochondrial DNA mutation at position 7445, which affects tRNASer(UCN) precursor processing, has long-range effects on NADH dehydrogenase subunit ND6 gene expression.Very high penetrance and occurrence of Leber's hereditary optic neuropathy in a large Han Chinese pedigree carrying the ND4 G11778A mutation.Extremely low penetrance of Leber's hereditary optic neuropathy in 8 Han Chinese families carrying the ND4 G11778A mutation.Leber hereditary optic neuropathyLeber's Hereditary Optic Neuropathy-Gene Therapy: From Benchtop to Bedside.Leber's hereditary optic neuropathy affects only female matrilineal relatives in two Chinese families.Pitfalls in the molecular genetic diagnosis of Leber hereditary optic neuropathy (LHON).Evidence against an X-linked locus close to DXS7 determining visual loss susceptibility in British and Italian families with Leber hereditary optic neuropathy.A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology.Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484.Defects of mitochondrial DNA.The NADH:ubiquinone oxidoreductase (complex I) of respiratory chains.Pedigree analysis in Leber hereditary optic neuropathy families with a pathogenic mtDNA mutation.Mitochondrial DNA sequence variation in human evolution and disease.Cosegregation of the ND4 G11696A mutation with the LHON-associated ND4 G11778A mutation in a four generation Chinese family.Compensatory elevation of complex II activity in Leber's hereditary optic neuropathy.Finger prick blood testing in Leber hereditary optic neuropathy.Relationship of genotype to phenotype in fibroblast-derived transmitochondrial cell lines carrying the 3243 mutation associated with the MELAS encephalomyopathy: shift towards mutant genotype and role of mtDNA copy number.Impairment of central and peripheral myelin in mitochondrial diseases.Mitochondrial DNA background modifies the bioenergetics of NARP/MILS ATP6 mutant cells.Clustering of Caucasian Leber hereditary optic neuropathy patients containing the 11778 or 14484 mutations on an mtDNA lineage.Features of mtDNA mutation patterns in European pedigrees and sporadic cases with Leber hereditary optic neuropathy.Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy.Disease relevance of the so-called secondary Leber hereditary optic neuropathy mutations.
P2860
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P2860
Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy
description
1991 nî lūn-bûn
@nan
1991 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
1991 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
1991年の論文
@ja
1991年論文
@yue
1991年論文
@zh-hant
1991年論文
@zh-hk
1991年論文
@zh-mo
1991年論文
@zh-tw
1991年论文
@wuu
name
Alternative, simultaneous comp ...... 's hereditary optic neuropathy
@ast
Alternative, simultaneous comp ...... 's hereditary optic neuropathy
@en
Alternative, simultaneous comp ...... 's hereditary optic neuropathy
@nl
type
label
Alternative, simultaneous comp ...... 's hereditary optic neuropathy
@ast
Alternative, simultaneous comp ...... 's hereditary optic neuropathy
@en
Alternative, simultaneous comp ...... 's hereditary optic neuropathy
@nl
prefLabel
Alternative, simultaneous comp ...... 's hereditary optic neuropathy
@ast
Alternative, simultaneous comp ...... 's hereditary optic neuropathy
@en
Alternative, simultaneous comp ...... 's hereditary optic neuropathy
@nl
P1476
Alternative, simultaneous comp ...... 's hereditary optic neuropathy
@en
P2093
P304
P356
10.1016/0006-291X(91)91567-V
P407
P577
1991-02-14T00:00:00Z