The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy
about
Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorderMutation in mitochondrial complex I ND6 subunit is associated with defective response to hypoxia in human glioma cellsMitochondrial complex I and cell death: a semi-automatic shotgun modelLeber hereditary optic neuropathy: current perspectivesRare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathyIdentification of novel mitochondrial mutations in Leber's hereditary optic neuropathySequence analysis of the mitochondrial genomes from Dutch pedigrees with Leber hereditary optic neuropathy.Mitochondrial DNA haplogroup background affects LHON, but not suspected LHON, in Chinese patientsLeber hereditary optic neuropathyMitochondrial optic neuropathies - disease mechanisms and therapeutic strategies.New MT-ND6 and NDUFA1 mutations in mitochondrial respiratory chain disorders.The optic nerve: a "mito-window" on mitochondrial neurodegenerationThe neuro-ophthalmology of mitochondrial diseaseLeber's Hereditary Optic Neuropathy-Gene Therapy: From Benchtop to Bedside.Increase of mitochondrial DNA in blood cells of patients with Leber's hereditary optic neuropathy with 11778 mutationAdaptation of the Mitochondrial Genome in Cephalopods: Enhancing Proton Translocation Channels and the Subunit Interactions.Development and validation of a novel PCR-RFLP based method for the detection of 3 primary mitochondrial mutations in Leber's hereditary optic neuropathy patientsClinical characterization and mitochondrial DNA sequence variations in Leber hereditary optic neuropathy.A multi-parametric workflow for the prioritization of mitochondrial DNA variants of clinical interestMitochondrial DNA variants correlate with symptoms in myalgic encephalomyelitis/chronic fatigue syndrome.The role of mitochondria in inherited neurodegenerative diseases.Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease.Inherited mitochondrial optic neuropathies.The inhibition of TDP-43 mitochondrial localization blocks its neuronal toxicity.A real-time ARMS PCR/high-resolution melt curve assay for the detection of the three primary mitochondrial mutations in Leber's hereditary optic neuropathyStem Cell Ophthalmology Treatment Study (SCOTS): bone marrow-derived stem cells in the treatment of Leber's hereditary optic neuropathy.Novel therapeutic approaches for Leber's hereditary optic neuropathy.Idebenone: A Review in Leber's Hereditary Optic Neuropathy.Nuclear suppression of mitochondrial defects in cells without the ND6 subunit.Leber Hereditary Optic Neuropathy: A Mitochondrial Disease Unique in Many Ways.ND6 gene "lost" and found: evolution of mitochondrial gene rearrangement in Antarctic notothenioids.Mitochondrial DNA nucleotide changes C14482G and C14482A in the ND6 gene are pathogenic for Leber's hereditary optic neuropathy.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.Prevalence of the primary LHON mutations in Northern Finland associated with bilateral optic atrophy and tobacco-alcohol amblyopia.New MT-ND1 pathologic mutation for Leber hereditary optic neuropathy.Mutation analysis of Leber's hereditary optic neuropathy using a multi-gene panel.Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber's hereditary optic neuropathy.Screening of common point-mutations and discovery of new T14727C change in mitochondrial genome of Vietnamese encephalomyopathy patients.Diagnostic screening of mitochondrial DNA mutations in Australian adults 1990-2001.
P2860
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P2860
The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy
description
2001 nî lūn-bûn
@nan
2001 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
The mitochondrial ND6 gene is ...... 's hereditary optic neuropathy
@ast
The mitochondrial ND6 gene is ...... 's hereditary optic neuropathy
@en
The mitochondrial ND6 gene is ...... 's hereditary optic neuropathy
@nl
type
label
The mitochondrial ND6 gene is ...... 's hereditary optic neuropathy
@ast
The mitochondrial ND6 gene is ...... 's hereditary optic neuropathy
@en
The mitochondrial ND6 gene is ...... 's hereditary optic neuropathy
@nl
prefLabel
The mitochondrial ND6 gene is ...... 's hereditary optic neuropathy
@ast
The mitochondrial ND6 gene is ...... 's hereditary optic neuropathy
@en
The mitochondrial ND6 gene is ...... 's hereditary optic neuropathy
@nl
P2093
P3181
P356
P1433
P1476
The mitochondrial ND6 gene is ...... 's hereditary optic neuropathy
@en
P2093
D A Applegarth
D M Turnbull
P Riordan-Eva
R M Andrews
R Singh-Kler
P304
P3181
P356
10.1093/BRAIN/124.1.209
P407
P577
2001-01-01T00:00:00Z