OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28 (Q24290356)

axonal transport of mitochondrion

GOA release 2020-03-11

1 reference

autosomal dominant optic atrophy

GOA release 2020-03-11

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M Votruba

2

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author name string

C Alexander

1

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U E Pesch

3

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D L Thiselton

4

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S Mayer

5

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A Moore

6

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M Rodriguez

7

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U Kellner

8

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B Leo-Kottler

9

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G Auburger

10

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S S Bhattacharya

11

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B Wissinger

Dominant optic atrophy. Refining the clinical diagnostic criteria in light of genetic linkage studies

12

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language of work or name

English

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publication date

October 2000

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published in

Nature Genetics

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volume

26

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issue

2

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page(s)

211-5

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cites work

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Yeast and human frataxin are processed to mature form in two sequential steps by the mitochondrial processing peptidase.

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Dymple, a novel dynamin-like high molecular weight GTPase lacking a proline-rich carboxyl-terminal domain in mammalian cells

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A human dynamin-related protein controls the distribution of mitochondria

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Clinical features in affected individuals from 21 pedigrees with dominant optic atrophy

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Refinement of the dominant optic atrophy locus (OPA1) to a 1.4-cM interval on chromosome 3q28-3q29, within a 3-Mb YAC contig

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Dominant optic atrophy mapped to chromosome 3q region. II. Clinical and epidemiological aspects

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A Clinicopathologic Study of Autosomal Dominant Optic Atrophy

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Histopathology of eye, optic nerve and brain in a case of dominant optic atrophy

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Dominant optic atrophy (OPA1) mapped to chromosome 3q region. I. Linkage analysis

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Clinical and genetic analysis of a family affected with dominant optic atrophy (OPA1)

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Genetic heterogeneity of dominant optic atrophy, Kjer type: Identification of a second locus on chromosome 18q12.2-12.3.

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Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro

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Isolation of a cDNA for a novel 120-kDa GTP-binding protein expressed in motor neurons in the salmon brain

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Domain structure and intramolecular regulation of dynamin GTPase

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The dynamin family of mechanoenzymes: pinching in new places

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Normal mitochondrial structure and genome maintenance in yeast requires the dynamin-like product of the MGM1 gene.

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Identification of a fission yeast dynamin-related protein involved in mitochondrial DNA maintenance.

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The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation

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Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

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