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The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy
scientific journal article
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PubMed
PubMed ID
11062483
retrieved
24 January 2017
title
The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy
(English)
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PubMed
PubMed ID
11062483
retrieved
24 January 2017
main subject
cytoskeleton
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Giant axonal neuropathy
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GOA release 2020-03-11
axonal neuropathy
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inferred from title
author
Rudolf Korinthenberg
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R. Korinthenberg
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9
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P. Bomont
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1
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PubMed
PubMed ID
11062483
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24 January 2017
L. Cavalier
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2
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PubMed
PubMed ID
11062483
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24 January 2017
F. Blondeau
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3
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PubMed
PubMed ID
11062483
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24 January 2017
C. Ben Hamida
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4
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PubMed
PubMed ID
11062483
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24 January 2017
S. Belal
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PubMed
PubMed ID
11062483
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24 January 2017
M. Tazir
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6
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PubMed
PubMed ID
11062483
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24 January 2017
E. Demir
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7
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PubMed
PubMed ID
11062483
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H. Topaloglu
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PubMed
PubMed ID
11062483
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B. Tüysüz
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PubMed
PubMed ID
11062483
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P. Landrieu
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11
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PubMed
PubMed ID
11062483
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F. Hentati
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PubMed
PubMed ID
11062483
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M. Koenig
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13
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PubMed
PubMed ID
11062483
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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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PubMed
PubMed ID
11062483
retrieved
24 January 2017
published in
Nature Genetics
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PubMed
PubMed ID
11062483
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24 January 2017
volume
26
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PubMed
PubMed ID
11062483
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24 January 2017
issue
3
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PubMed
PubMed ID
11062483
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24 January 2017
page(s)
370–374
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PubMed
PubMed ID
11062483
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24 January 2017
cites work
SOD1 mutation is associated with accumulation of neurofilaments in amyotrophic lateral sclerosis.
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reference URL
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Axonal Charcot-Marie-Tooth disease and the neurofilament light gene (NF-L)
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reference URL
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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
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Giant axonal neuropathy--a unique case with segmental neurofilamentous masses
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2F81701
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7 January 2021
based on heuristic
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Giant axonal neuropathy with inherited multisystem degeneration in a Tunisian kindred
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Crossref
reference URL
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7 January 2021
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Giant Axonal Neuropathy—A Generalized Disorder of Cytoplasmic Microfilament Formation
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Crossref
reference URL
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7 January 2021
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inferred from DOI database lookup
Giant axonal neuropathy: An inborn error of organization of intermediate filaments
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Crossref
reference URL
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7 January 2021
based on heuristic
inferred from DOI database lookup
Giant axonal neuropathy. A neuropathological study
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Crossref
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7 January 2021
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Aggregation of a subpopulation of vimentin filaments in cultured human skin fibroblasts derived from patients with giant axonal neuropathy
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Crossref
reference URL
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inferred from DOI database lookup
Giant axonal neuropathy: a generalized disorder of intermediate filaments with longitudinal grooves in the hair
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Crossref
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Crystal structure of a free radical enzyme, galactose oxidase
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Crossref
reference URL
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7 January 2021
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inferred from DOI database lookup
Homozygosity mapping of giant axonal neuropathy gene to chromosome 16q24.1.
1 reference
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Crossref
reference URL
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7 January 2021
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inferred from DOI database lookup
Giant axonal neuropathy locus refinement to a < 590 kb critical interval.
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2F81701
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7 January 2021
based on heuristic
inferred from DOI database lookup
The kelch repeat superfamily of proteins: propellers of cell function
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2F81701
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7 January 2021
based on heuristic
inferred from DOI database lookup
The POZ domain: a conserved protein-protein interaction motif
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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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Crossref
reference URL
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kelch encodes a component of intercellular bridges in Drosophila egg chambers
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Crossref
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Characterization of Mayven, a novel actin-binding protein predominantly expressed in brain
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Keap1 represses nuclear activation of antioxidant responsive elements by Nrf2 through binding to the amino-terminal Neh2 domain
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Cloning of human ENC-1 and evaluation of its expression and regulation in nervous system tumors.
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inferred from DOI database lookup
Drosophila kelch is an oligomeric ring canal actin organizer
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Crossref
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inferred from DOI database lookup
Charcot-Marie-Tooth 2-like presentation of an Algerian family with giant axonal neuropathy
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Crossref
reference URL
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ENC-1: a novel mammalian kelch-related gene specifically expressed in the nervous system encodes an actin-binding protein.
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Crossref
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Molecular nature of calicin, a major basic protein of the mammalian sperm head cytoskeleton.
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Transgenic mice in the study of ALS: the role of neurofilaments.
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Crossref
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Protective effect of neurofilament heavy gene overexpression in motor neuron disease induced by mutant superoxide dismutase
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2F81701
retrieved
7 January 2021
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Identifiers
DOI
10.1038/81701
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
3133094
OpenCitations bibliographic resource ID
3133094
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
3133094
PubMed ID
11062483
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
3133094
Springer Nature article ID
10.1038/81701
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