The instability of the BTB-KELCH protein Gigaxonin causes Giant Axonal Neuropathy and constitutes a new penetrant and specific diagnostic test

scientific article

The instability of the BTB-KELCH protein Gigaxonin causes Giant Axonal Neuropathy and constitutes a new penetrant and specific diagnostic test is …
instance of (P31):
scholarly articleQ13442814

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P6179Dimensions Publication ID1052460374
P356DOI10.1186/2051-5960-2-47
P932PMC publication ID4234992
P698PubMed publication ID24758703
P5875ResearchGate publication ID261837107

P50authorBernd RautenstraussQ30225327
P2093author name stringHenry Houlden
Brenda A Schulman
Tanya Stojkovic
Nancy L Kuntz
Brigitte Chabrol
Yasmina Talmat-Amar
Deborah Morrogh
Pascale Bomont
Alexia Boizot
Cecile Halbert
P2860cites workStructure of the Keap1:Nrf2 interface provides mechanistic insight into Nrf2 signalingQ24298930
Adaptor protein self-assembly drives the control of a cullin-RING ubiquitin ligaseQ24336527
Different Electrostatic Potentials Define ETGE and DLG Motifs as Hinge and Latch in Oxidative Stress ResponseQ27647812
Structures of SPOP-Substrate Complexes: Insights into Molecular Architectures of BTB-Cul3 Ubiquitin LigasesQ27657740
Structural Basis for Cul3 Protein Assembly with the BTB-Kelch Family of E3 Ubiquitin LigasesQ27675990
Function and regulation of cullin-RING ubiquitin ligasesQ28131707
The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathyQ28506382
Structural basis for defects of Keap1 activity provoked by its point mutations in lung cancerQ29616499
Identification of seven novel mutations in the GAN gene.Q34185863
Charcot-Marie-Tooth disease with giant axons: a clinicopathological and genetic entity.Q34269725
Sensory-motor deficits and neurofilament disorganization in gigaxonin-null miceQ34980848
Giant axonal neuropathy: clinical and genetic study in six cases.Q35488414
Giant axonal neuropathy-associated gigaxonin mutations impair intermediate filament protein degradationQ36793478
Modest loss of peripheral axons, muscle atrophy and formation of brain inclusions in mice with targeted deletion of gigaxonin exon 1Q36853945
Gigaxonin controls vimentin organization through a tubulin chaperone-independent pathwayQ37147147
Charcot-Marie-Tooth 2-like presentation of an Algerian family with giant axonal neuropathyQ39624233
Giant Axonal Neuropathy—A Generalized Disorder of Cytoplasmic Microfilament FormationQ39996864
BTB proteins are substrate-specific adaptors in an SCF-like modular ubiquitin ligase containing CUL-3.Q40633677
The BTB protein MEL-26 is a substrate-specific adaptor of the CUL-3 ubiquitin-ligase.Q47069071
The absence of curly hair is associated with a milder phenotype in Giant Axonal NeuropathyQ47925052
Targeting of protein ubiquitination by BTB–Cullin 3–Roc1 ubiquitin ligasesQ50337002
Giant axonal neuropathy caused by compound heterozygosity for a maternally inherited microdeletion and a paternal mutation within the GAN geneQ57207040
Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutationsQ57908840
Giant axonal neuropathy with inherited multisystem degeneration in a Tunisian kindredQ68448041
Giant axonal neuropathyQ68644366
Giant axonal neuropathy--a unique case with segmental neurofilamentous massesQ70419309
Intermediate filament aggregation in fibroblasts of giant axonal neuropathy patients is aggravated in non dividing cells and by microtubule destabilizationQ73199659
P921main subjectaxonal neuropathyQ18557549
P304page(s)47
P577publication date2014-04-24
P1433published inActa Neuropathologica CommunicationsQ27724912
P1476titleThe instability of the BTB-KELCH protein Gigaxonin causes Giant Axonal Neuropathy and constitutes a new penetrant and specific diagnostic test
P478volume2

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cites work (P2860)
Q38792675A review of gigaxonin mutations in giant axonal neuropathy (GAN) and cancer
Q38561514Charcot-Marie-Tooth diseases: an update and some new proposals for the classification
Q92134518Comparative structural and evolutionary analyses predict functional sites in the artemisinin resistance malaria protein K13
Q92682038Gigaxonin glycosylation regulates intermediate filament turnover and may impact giant axonal neuropathy etiology or treatment
Q38664878Glycosylation of KEAP1 links nutrient sensing to redox stress signaling.
Q45868220Measuring disease progression in giant axonal neuropathy: implications for clinical trial design
Q52390102Mechanisms and controversies in mutant Cul3-mediated Familial Hyperkalemic Hypertension
Q36194437Novel homozygous missense mutation in GAN associated with Charcot-Marie-Tooth disease type 2 in a large consanguineous family from Israel
Q90020755Sonic Hedgehog repression underlies gigaxonin mutation-induced motor deficits in giant axonal neuropathy
Q37687577Systematically characterizing dysfunctional long intergenic non-coding RNAs in multiple brain regions of major psychosis

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