A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia - Test2 - elhamkhani - TriplyDB

A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia

A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia

http://www.wikidata.org/entity/Q24561975

about

Structural organization of mitochondrial human complex I: role of the ND4 and ND5 mitochondria-encoded subunits and interaction with prohibitin Leber's "plus": neurological abnormalities in patients with Leber's hereditary optic neuropathy Mitochondria and dystonia: the movement disorder connection?Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia Mutation in mitochondrial complex I ND6 subunit is associated with defective response to hypoxia in human glioma cells Combined defects in oxidative phosphorylation and fatty acid β-oxidation in mitochondrial disease Respiratory chain complex I deficiency A novel deafness/dystonia peptide gene mutation that causes dystonia in female carriers of Mohr-Tranebjaerg syndrome The 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 genomic variation associated with higher mitochondrial copy number: the Cache County Study on Memory Health and Aging A mitochondrial paradigm of metabolic and degenerative diseases, aging, and cancer: a dawn for evolutionary medicine Clinical and molecular features of an infant patient affected by Leigh Disease associated to m.14459G>A mitochondrial DNA mutation: a case report Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathy Performance of mitochondrial DNA mutations detecting early stage cancer.Pediatric-onset dystonia associated with bilateral striatal necrosis and G14459A mutation in a Korean family: a case report.Hereditary optic neuropathies.The ophthalmologic manifestations of mitochondrial disease.Multiplex analysis of mitochondrial DNA pathogenic and polymorphic sequence variants.Aggregation of actin and cofilin in identical twins with juvenile-onset dystonia.Leber's hereditary optic neuropathy: the clinical relevance of different mitochondrial DNA mutations.Mitochondrial myopathies and encephalomyopathies.Mitochondrial disorders. A diagnostic challenge in clinical chemistry.Identification of novel mitochondrial mutations in Leber's hereditary optic neuropathy Clinical mitochondrial genetics.Leber hereditary optic neuropathy Specific elimination of mutant mitochondrial genomes in patient-derived cells by mitoTALENs.Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies.Mitochondrial loss, dysfunction and altered dynamics in Huntington's disease Mitochondrial DNA variant associated with Leber hereditary optic neuropathy and high-altitude Tibetans.The optic nerve: a "mito-window" on mitochondrial neurodegeneration Mitochondrial defects in neurodegenerative disease.Selective elimination of mitochondrial mutations in the germline by genome editing Leber's Hereditary Optic Neuropathy-Gene Therapy: From Benchtop to Bedside.Mitochondrial cardiomyopathies: how to identify candidate pathogenic mutations by mitochondrial DNA sequencing, MITOMASTER and phylogeny Direct regulation of complex I by mitochondrial MEF2D is disrupted in a mouse model of Parkinson disease and in human patients.Mitochondrial DNA haplogroups and mutations in children with acquired central demyelination LHON: Mitochondrial Mutations and More.Bioenergetic origins of complexity and disease.1994 William Allan Award Address. Mitochondrial DNA variation in human evolution, degenerative disease, and aging Mitochondrial DNA sequence variation in human evolution and disease.

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P2860

A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia

http://www.wikidata.org/entity/Q24561975

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1994 nî lūn-bûn

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1994 թվականի հունիսին հրատարակված գիտական հոդված

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1994年の論文

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A mitochondrial DNA mutation a ...... optic neuropathy and dystonia

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A mitochondrial DNA mutation a ...... optic neuropathy and dystonia

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A mitochondrial DNA mutation a ...... optic neuropathy and dystonia

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A mitochondrial DNA mutation a ...... optic neuropathy and dystonia

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A mitochondrial DNA mutation a ...... optic neuropathy and dystonia

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A mitochondrial DNA mutation a ...... optic neuropathy and dystonia

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A mitochondrial DNA mutation a ...... optic neuropathy and dystonia

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Proceedings of the National Academy of Sciences of the United States of America

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A mitochondrial DNA mutation a ...... optic neuropathy and dystonia

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A S Jun

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D C Wallace

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P2860

Southeast Asian mitochondrial DNA analysis reveals genetic continuity of ancient mongoloid migrations.

Native American mitochondrial DNA analysis indicates that the Amerind and the Nadene populations were founded by two independent migrations.

Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy.

Maternal inheritance of human mitochondrial DNA

A new disease-related mutation for mitochondrial encephalopathy lactic acidosis and strokelike episodes (MELAS) syndrome affects the ND4 subunit of the respiratory complex I

Asian affinities and continental radiation of the four founding Native American mtDNAs

A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy

Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation

Sequence and organization of the human mitochondrial genome

An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy

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8016139

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mitochondrial DNA

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44167

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