(Q46667511)

24 December 2017

title

A novel mtDNA C11777A mutation in Leigh syndrome (English)

1 reference

24 December 2017

author name string

Hirofumi Komaki

1

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24 December 2017

Jun Akanuma

2

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24 December 2017

Hideki Iwata

3

1 reference

24 December 2017

Takao Takahashi

4

1 reference

24 December 2017

Yukihiko Mashima

5

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24 December 2017

Ikuya Nonaka

6

1 reference

24 December 2017

Yu-Ichi Goto

7

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24 December 2017

publication date

1 March 2003

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24 December 2017

published in

Mitochondrion

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24 December 2017

volume

2

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24 December 2017

issue

4

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24 December 2017

page(s)

293-304

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24 December 2017

Two pathogenic point mutations exist in the authentic mitochondrial genome, not in the nuclear pseudogene.

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS1567-7249%2803%2900003-5

7 January 2021

Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1567-7249%2803%2900003-5

7 January 2021

Measurement of cytochromes in human skeletal muscle mitochondria, isolated from fresh and frozen stored muscle specimens

1 reference

https://api.crossref.org/works/10.1016%2FS1567-7249%2803%2900003-5

7 January 2021

Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1567-7249%2803%2900003-5

7 January 2021

The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1567-7249%2803%2900003-5

7 January 2021

Mitochondrial cytochrome b: evolution and structure of the protein

1 reference

https://api.crossref.org/works/10.1016%2FS1567-7249%2803%2900003-5

7 January 2021

Functional alterations of the mitochondrially encoded ND4 subunit associated with Leber's hereditary optic neuropathy.

1 reference

https://api.crossref.org/works/10.1016%2FS1567-7249%2803%2900003-5

7 January 2021

A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1567-7249%2803%2900003-5

7 January 2021

Does the patient have a mitochondrial encephalomyopathy?

1 reference

https://api.crossref.org/works/10.1016%2FS1567-7249%2803%2900003-5

7 January 2021

Conservation of sequences of subunits of mitochondrial complex I and their relationships with other proteins

1 reference

https://api.crossref.org/works/10.1016%2FS1567-7249%2803%2900003-5

7 January 2021

Requirement of histidine 217 for ubiquinone reductase activity (Qi site) in the cytochrome bc1 complex

1 reference

https://api.crossref.org/works/10.1016%2FS1567-7249%2803%2900003-5

7 January 2021

Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation

1 reference

https://api.crossref.org/works/10.1016%2FS1567-7249%2803%2900003-5

7 January 2021

Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families

1 reference

https://api.crossref.org/works/10.1016%2FS1567-7249%2803%2900003-5

7 January 2021

Variability in the activity of respiratory chain enzymes in mitochondrial myopathies

1 reference

https://api.crossref.org/works/10.1016%2FS1567-7249%2803%2900003-5

7 January 2021

MITOMAP: a human mitochondrial genome database--1998 update

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https://api.crossref.org/works/10.1016%2FS1567-7249%2803%2900003-5

7 January 2021

Subacute necrotizing encephalomyelopathy in an infant

1 reference

https://api.crossref.org/works/10.1016%2FS1567-7249%2803%2900003-5

7 January 2021

Mitochondrial DNA polymorphism in disease: a possible contributor to respiratory dysfunction

1 reference

https://api.crossref.org/works/10.1016%2FS1567-7249%2803%2900003-5

7 January 2021

The first nuclear-encoded complex I mutation in a patient with Leigh syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1567-7249%2803%2900003-5

7 January 2021

Isolated complex I deficiency in children: clinical, biochemical and genetic aspects

1 reference

https://api.crossref.org/works/10.1016%2FS1567-7249%2803%2900003-5

7 January 2021

Mitochondrial DNA mutations in Leigh syndrome and their phylogenetic implications

1 reference

https://api.crossref.org/works/10.1016%2FS1567-7249%2803%2900003-5

7 January 2021

The in vitro cultivation and differentiation capacities of myogenic cell lines

1 reference

https://api.crossref.org/works/10.1016%2FS1567-7249%2803%2900003-5

7 January 2021

Nuclear genetic defects of oxidative phosphorylation

1 reference

https://api.crossref.org/works/10.1016%2FS1567-7249%2803%2900003-5

7 January 2021

Clinical features associated with the A-->G transition at nucleotide 8344 of mtDNA ("MERRF mutation").

1 reference

https://api.crossref.org/works/10.1016%2FS1567-7249%2803%2900003-5

7 January 2021

Infantile encephalopathy associated with the MELAS A3243G mutation.

1 reference

https://api.crossref.org/works/10.1016%2FS1567-7249%2803%2900003-5

7 January 2021

A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis

1 reference

https://api.crossref.org/works/10.1016%2FS1567-7249%2803%2900003-5

7 January 2021

Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I.

1 reference

https://api.crossref.org/works/10.1016%2FS1567-7249%2803%2900003-5

7 January 2021

Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit

1 reference

https://api.crossref.org/works/10.1016%2FS1567-7249%2803%2900003-5

7 January 2021

MtDNA mutations associated with Leber's hereditary optic neuropathy: studies on cytoplasmic hybrid (cybrid) cells.

1 reference

https://api.crossref.org/works/10.1016%2FS1567-7249%2803%2900003-5

7 January 2021

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

1 reference

https://api.crossref.org/works/10.1016%2FS1567-7249%2803%2900003-5

7 January 2021

SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1567-7249%2803%2900003-5

7 January 2021

10.1016/S1567-7249(03)00003-5

Identifiers

DOI

1 reference

24 December 2017

PubMed ID

16120329

1 reference

24 December 2017