The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy (Q28506382)

GOA release 2020-03-11

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R. Korinthenberg

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author name string

P. Bomont

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24 January 2017

L. Cavalier

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24 January 2017

F. Blondeau

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24 January 2017

C. Ben Hamida

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24 January 2017

S. Belal

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24 January 2017

M. Tazir

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24 January 2017

E. Demir

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24 January 2017

H. Topaloglu

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24 January 2017

B. Tüysüz

10

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24 January 2017

P. Landrieu

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24 January 2017

F. Hentati

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24 January 2017

M. Koenig

SOD1 mutation is associated with accumulation of neurofilaments in amyotrophic lateral sclerosis.

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24 January 2017

language of work or name

English

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publication date

1 November 2000

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24 January 2017

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24 January 2017

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24 January 2017

370–374

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24 January 2017

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7 January 2021

Axonal Charcot-Marie-Tooth disease and the neurofilament light gene (NF-L)

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7 January 2021

A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene

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7 January 2021

Giant axonal neuropathy--a unique case with segmental neurofilamentous masses

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7 January 2021

Giant axonal neuropathy with inherited multisystem degeneration in a Tunisian kindred

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7 January 2021

Giant Axonal Neuropathy—A Generalized Disorder of Cytoplasmic Microfilament Formation

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7 January 2021

Giant axonal neuropathy: An inborn error of organization of intermediate filaments

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7 January 2021

Giant axonal neuropathy. A neuropathological study

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7 January 2021

Aggregation of a subpopulation of vimentin filaments in cultured human skin fibroblasts derived from patients with giant axonal neuropathy

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7 January 2021

Giant axonal neuropathy: a generalized disorder of intermediate filaments with longitudinal grooves in the hair

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7 January 2021

Crystal structure of a free radical enzyme, galactose oxidase

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7 January 2021

Homozygosity mapping of giant axonal neuropathy gene to chromosome 16q24.1.

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7 January 2021

Giant axonal neuropathy locus refinement to a < 590 kb critical interval.

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7 January 2021

The kelch repeat superfamily of proteins: propellers of cell function

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7 January 2021

The POZ domain: a conserved protein-protein interaction motif

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7 January 2021

The BTB domain, found primarily in zinc finger proteins, defines an evolutionarily conserved family that includes several developmentally regulated genes in Drosophila

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7 January 2021

kelch encodes a component of intercellular bridges in Drosophila egg chambers

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7 January 2021

Characterization of Mayven, a novel actin-binding protein predominantly expressed in brain

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7 January 2021

Keap1 represses nuclear activation of antioxidant responsive elements by Nrf2 through binding to the amino-terminal Neh2 domain

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7 January 2021

Cloning of human ENC-1 and evaluation of its expression and regulation in nervous system tumors.

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7 January 2021

Drosophila kelch is an oligomeric ring canal actin organizer

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7 January 2021

Charcot-Marie-Tooth 2-like presentation of an Algerian family with giant axonal neuropathy

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7 January 2021

ENC-1: a novel mammalian kelch-related gene specifically expressed in the nervous system encodes an actin-binding protein.

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7 January 2021

Molecular nature of calicin, a major basic protein of the mammalian sperm head cytoskeleton.

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7 January 2021

Transgenic mice in the study of ALS: the role of neurofilaments.

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7 January 2021

Protective effect of neurofilament heavy gene overexpression in motor neuron disease induced by mutant superoxide dismutase

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7 January 2021