(Q28214804)

1

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Etsuo Naito

2

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Michinori Ito

3

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Ichiro Yokota

4

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Kumi Shinahara

6

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Yasuhiro Kuroda

7

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Takahiko Saijo

Defective activation of the pyruvate dehydrogenase complex in subacute necrotizing encephalomyelopathy (leigh disease)

5

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language of work or name

English

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publication date

March 2002

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published in

Pediatric Neurology

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volume

26

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issue

3

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page(s)

196-200

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cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2801%2900382-4

7 January 2021

Enzymologic studies and therapy of Leigh's disease associated with pyruvate decarboxylase deficiency.

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2801%2900382-4

7 January 2021

Genetic heterogeneity in Leigh syndrome.

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2801%2900382-4

7 January 2021

Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2801%2900382-4

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%2FS0887-8994%2801%2900382-4

7 January 2021

Molecular analysis of abnormal pyruvate dehydrogenase in a patient with thiamine-responsive congenital lactic acidemia

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2801%2900382-4

7 January 2021

Characterization of cytochrome-c oxidase mutants in human fibroblasts

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2801%2900382-4

7 January 2021

An electron-transport system associated with the outer membrane of liver mitochondria. A biochemical and morphological study

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2801%2900382-4

7 January 2021

Human mitochondrial electron transport chain: assay of succinate: cytochrome c reductase in leukocytes, platelets and cultured fibroblasts

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2801%2900382-4

7 January 2021

A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies.

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2801%2900382-4

7 January 2021

Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochromec oxidase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2801%2900382-4

7 January 2021

Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome C oxidase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2801%2900382-4

7 January 2021

Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2801%2900382-4

7 January 2021

Two novel mutations of SURF1 in Leigh syndrome with cytochrome c oxidase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2801%2900382-4

7 January 2021

New splicing-site mutations in the SURF1 gene in Leigh syndrome patients

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2801%2900382-4

7 January 2021

Expression and functional analysis of SURF1 in Leigh syndrome patients with cytochrome c oxidase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2801%2900382-4

7 January 2021

Characterization of SURF-1 expression and Surf-1p function in normal and disease conditions.

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2801%2900382-4

7 January 2021