The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy
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Update on the Kelch-like (KLHL) gene familyCharacterization of BTBD1 and BTBD2, two similar BTB-domain-containing Kelch-like proteins that interact with Topoisomerase IAlterations in lipid metabolism gene expression and abnormal lipid accumulation in fibroblast explants from giant axonal neuropathy patientsBPAG1n4 is essential for retrograde axonal transport in sensory neuronsStructure of the Keap1:Nrf2 interface provides mechanistic insight into Nrf2 signalingZBTB42 mutation defines a novel lethal congenital contracture syndrome (LCCS6).Microtubule-associated protein 1B: a neuronal binding partner for gigaxoninUbiquitination of Keap1, a BTB-Kelch substrate adaptor protein for Cul3, targets Keap1 for degradation by a proteasome-independent pathwayUbiquitin ligase activity of Cul3-KLHL7 protein is attenuated by autosomal dominant retinitis pigmentosa causative mutationGigaxonin-controlled degradation of MAP1B light chain is critical to neuronal survivalPrintor, a novel torsinA-interacting protein implicated in dystonia pathogenesisMolecular analysis of muskelin identifies a conserved discoidin-like domain that contributes to protein self-associationKeap1 is a redox-regulated substrate adaptor protein for a Cul3-dependent ubiquitin ligase complex.Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosaDysfunctions of neuronal and glial intermediate filaments in diseaseKLHL1/MRP2 mediates neurite outgrowth in a glycogen synthase kinase 3beta-dependent mannerNew mutations, genotype phenotype studies and manifesting carriers in giant axonal neuropathyMolecular phylogeny of the kelch-repeat superfamily reveals an expansion of BTB/kelch proteins in animalsSequence and structural analysis of BTB domain proteinsIntermediate Filaments Play a Pivotal Role in Regulating Cell Architecture and FunctionAbnormal intermediate filament organization alters mitochondrial motility in giant axonal neuropathy fibroblastsKelch proteins: emerging roles in skeletal muscle development and diseases.The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosumFetal Alz-50 clone 1 interacts with the human orthologue of the Kelch-like Ech-associated proteinCrystal structure of the Kelch domain of human Keap1Actinfilin, a brain-specific actin-binding protein in postsynaptic densityThe BTB-kelch protein KLHL6 is involved in B-lymphocyte antigen receptor signaling and germinal center formation.Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transportCollaboration for rare disease drug discovery researchGiant axonal neuropathy: An updated perspective on its pathology and pathogenesis.Intermediate filament aggregates cause mitochondrial dysmotility and increase energy demands in giant axonal neuropathy.Neurological Disorders Associated with Striatal Lesions: Classification and Diagnostic Approach.Identification of Nd1, a novel murine kelch family protein, involved in stabilization of actin filaments.Detection of autoantibodies to the BTB-kelch protein KLHL7 in cancer sera.COP9 limits dendritic branching via Cullin3-dependent degradation of the actin-crosslinking BTB-domain protein Kelch.EOR-2 is an obligate binding partner of the BTB-zinc finger protein EOR-1 in Caenorhabditis elegans.Recommendations to enable drug development for inherited neuropathies: Charcot-Marie-Tooth and Giant Axonal Neuropathy.Clinical and molecular characterization of ataxia with oculomotor apraxia patients in Saudi Arabia.Kelch-like homologue 9 mutation is associated with an early onset autosomal dominant distal myopathyNuclear matrix protein (NRP/B) modulates the nuclear factor (Erythroid-derived 2)-related 2 (NRF2)-dependent oxidative stress response
P2860
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P2860
The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy
description
2000 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
articolo scientifico
@it
artículu científicu espublizáu en 2000
@ast
im November 2000 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 2000/11/01)
@sk
vědecký článek publikovaný v roce 2000
@cs
wetenschappelijk artikel (gepubliceerd op 2000/11/01)
@nl
наукова стаття, опублікована в листопаді 2000
@uk
name
The gene encoding gigaxonin, a ...... ted in giant axonal neuropathy
@ast
The gene encoding gigaxonin, a ...... ted in giant axonal neuropathy
@en
The gene encoding gigaxonin, a ...... ted in giant axonal neuropathy
@nl
type
label
The gene encoding gigaxonin, a ...... ted in giant axonal neuropathy
@ast
The gene encoding gigaxonin, a ...... ted in giant axonal neuropathy
@en
The gene encoding gigaxonin, a ...... ted in giant axonal neuropathy
@nl
prefLabel
The gene encoding gigaxonin, a ...... ted in giant axonal neuropathy
@ast
The gene encoding gigaxonin, a ...... ted in giant axonal neuropathy
@en
The gene encoding gigaxonin, a ...... ted in giant axonal neuropathy
@nl
P2093
P3181
P356
P1433
P1476
The gene encoding gigaxonin, a ...... ted in giant axonal neuropathy
@en
P2093
C. Ben Hamida
F. Blondeau
F. Hentati
H. Topaloglu
L. Cavalier
P2888
P304
P3181
P356
10.1038/81701
P407
P577
2000-11-01T00:00:00Z