Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation
about
The pedigree rate of sequence divergence in the human mitochondrial genome: there is a difference between phylogenetic and pedigree ratesMitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy.A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystoniaLeber's "plus": neurological abnormalities in patients with Leber's hereditary optic neuropathyA new disease-related mutation for mitochondrial encephalopathy lactic acidosis and strokelike episodes (MELAS) syndrome affects the ND4 subunit of the respiratory complex IA 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 pedigreesLeber hereditary optic neuropathy: current perspectivesThe mtDNA-encoded ND6 subunit of mitochondrial NADH dehydrogenase is essential for the assembly of the membrane arm and the respiratory function of the enzyme.How rapidly does the human mitochondrial genome evolve?Maternally inherited aminoglycoside-induced and nonsyndromic deafness is associated with the novel C1494T mutation in the mitochondrial 12S rRNA gene in a large Chinese familyAnalysis of mitochondrial DNA sequences in childhood encephalomyopathies reveals new disease-associated variantsLeber's hereditary optic neuropathy: correlations between mitochondrial genotype and visual outcome.Mitochondrial disorders and the eye.Very low penetrance of Leber's hereditary optic neuropathy in five Han Chinese families carrying the ND1 G3460A mutation.Brainstem involvement in Leber's hereditary optic neuropathy: association with the 14,484 mitochondrial DNA 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.Clinical mitochondrial genetics.Phylogenetic analysis of the mitochondrial genomes from Leber hereditary optic neuropathy pedigrees.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 neuropathyMitochondrial optic neuropathies - disease mechanisms and therapeutic strategies.The neuro-ophthalmology of mitochondrial diseaseAn mtDNA mutation in the initiation codon of the cytochrome C oxidase subunit II gene results in lower levels of the protein and a mitochondrial encephalomyopathy.Leber's Hereditary Optic Neuropathy-Gene Therapy: From Benchtop to Bedside.Stable nuclear expression of ATP8 and ATP6 genes rescues a mtDNA Complex V null mutantMutations in mitochondrial tRNA genes: non-linkage with syndromes of Wolfram and chronic progressive external ophthalmoplegiaPitfalls in the molecular genetic diagnosis of Leber hereditary optic neuropathy (LHON).The mitochondrial tRNA(Leu(UUR)) mutation in mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS): genetic, biochemical, and morphological correlations in skeletal muscle.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.Mitochondrial DNA sequence variation in human evolution and disease.Characterization of mtDNA variation in a cohort of South African paediatric patients with mitochondrial disease.Cosegregation of the ND4 G11696A mutation with the LHON-associated ND4 G11778A mutation in a four generation Chinese family.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.Mitochondrial DNA variations in Madras motor neuron diseaseDefects in mitochondrial protein synthesis and respiratory chain activity segregate with the tRNA(Leu(UUR)) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes.
P2860
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P2860
Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation
description
1991 nî lūn-bûn
@nan
1991 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
1991 թվականի մայիսին 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
Leber hereditary optic neuropa ...... intragenic suppressor mutation
@ast
Leber hereditary optic neuropa ...... intragenic suppressor mutation
@en
Leber hereditary optic neuropa ...... intragenic suppressor mutation
@nl
type
label
Leber hereditary optic neuropa ...... intragenic suppressor mutation
@ast
Leber hereditary optic neuropa ...... intragenic suppressor mutation
@en
Leber hereditary optic neuropa ...... intragenic suppressor mutation
@nl
prefLabel
Leber hereditary optic neuropa ...... intragenic suppressor mutation
@ast
Leber hereditary optic neuropa ...... intragenic suppressor mutation
@en
Leber hereditary optic neuropa ...... intragenic suppressor mutation
@nl
P2093
P2860
P3181
P1476
Leber hereditary optic neuropa ...... intragenic suppressor mutation
@en
P2093
P2860
P304
P3181
P407
P577
1991-05-01T00:00:00Z