scholarly article | Q13442814 |
P6179 | Dimensions Publication ID | 1052460374 |
P356 | DOI | 10.1186/2051-5960-2-47 |
P932 | PMC publication ID | 4234992 |
P698 | PubMed publication ID | 24758703 |
P5875 | ResearchGate publication ID | 261837107 |
P50 | author | Bernd Rautenstrauss | Q30225327 |
P2093 | author name string | Henry Houlden | |
Brenda A Schulman | |||
Tanya Stojkovic | |||
Nancy L Kuntz | |||
Brigitte Chabrol | |||
Yasmina Talmat-Amar | |||
Deborah Morrogh | |||
Pascale Bomont | |||
Alexia Boizot | |||
Cecile Halbert | |||
P2860 | cites work | Structure of the Keap1:Nrf2 interface provides mechanistic insight into Nrf2 signaling | Q24298930 |
Adaptor protein self-assembly drives the control of a cullin-RING ubiquitin ligase | Q24336527 | ||
Different Electrostatic Potentials Define ETGE and DLG Motifs as Hinge and Latch in Oxidative Stress Response | Q27647812 | ||
Structures of SPOP-Substrate Complexes: Insights into Molecular Architectures of BTB-Cul3 Ubiquitin Ligases | Q27657740 | ||
Structural Basis for Cul3 Protein Assembly with the BTB-Kelch Family of E3 Ubiquitin Ligases | Q27675990 | ||
Function and regulation of cullin-RING ubiquitin ligases | Q28131707 | ||
The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy | Q28506382 | ||
Structural basis for defects of Keap1 activity provoked by its point mutations in lung cancer | Q29616499 | ||
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 mice | Q34980848 | ||
Giant axonal neuropathy: clinical and genetic study in six cases. | Q35488414 | ||
Giant axonal neuropathy-associated gigaxonin mutations impair intermediate filament protein degradation | Q36793478 | ||
Modest loss of peripheral axons, muscle atrophy and formation of brain inclusions in mice with targeted deletion of gigaxonin exon 1 | Q36853945 | ||
Gigaxonin controls vimentin organization through a tubulin chaperone-independent pathway | Q37147147 | ||
Charcot-Marie-Tooth 2-like presentation of an Algerian family with giant axonal neuropathy | Q39624233 | ||
Giant Axonal Neuropathy—A Generalized Disorder of Cytoplasmic Microfilament Formation | Q39996864 | ||
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 Neuropathy | Q47925052 | ||
Targeting of protein ubiquitination by BTB–Cullin 3–Roc1 ubiquitin ligases | Q50337002 | ||
Giant axonal neuropathy caused by compound heterozygosity for a maternally inherited microdeletion and a paternal mutation within the GAN gene | Q57207040 | ||
Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations | Q57908840 | ||
Giant axonal neuropathy with inherited multisystem degeneration in a Tunisian kindred | Q68448041 | ||
Giant axonal neuropathy | Q68644366 | ||
Giant axonal neuropathy--a unique case with segmental neurofilamentous masses | Q70419309 | ||
Intermediate filament aggregation in fibroblasts of giant axonal neuropathy patients is aggravated in non dividing cells and by microtubule destabilization | Q73199659 | ||
P921 | main subject | axonal neuropathy | Q18557549 |
P304 | page(s) | 47 | |
P577 | publication date | 2014-04-24 | |
P1433 | published in | Acta Neuropathologica Communications | Q27724912 |
P1476 | title | The instability of the BTB-KELCH protein Gigaxonin causes Giant Axonal Neuropathy and constitutes a new penetrant and specific diagnostic test | |
P478 | volume | 2 |
Q38792675 | A review of gigaxonin mutations in giant axonal neuropathy (GAN) and cancer |
Q38561514 | Charcot-Marie-Tooth diseases: an update and some new proposals for the classification |
Q92134518 | Comparative structural and evolutionary analyses predict functional sites in the artemisinin resistance malaria protein K13 |
Q92682038 | Gigaxonin glycosylation regulates intermediate filament turnover and may impact giant axonal neuropathy etiology or treatment |
Q38664878 | Glycosylation of KEAP1 links nutrient sensing to redox stress signaling. |
Q45868220 | Measuring disease progression in giant axonal neuropathy: implications for clinical trial design |
Q52390102 | Mechanisms and controversies in mutant Cul3-mediated Familial Hyperkalemic Hypertension |
Q36194437 | Novel homozygous missense mutation in GAN associated with Charcot-Marie-Tooth disease type 2 in a large consanguineous family from Israel |
Q90020755 | Sonic Hedgehog repression underlies gigaxonin mutation-induced motor deficits in giant axonal neuropathy |
Q37687577 | Systematically characterizing dysfunctional long intergenic non-coding RNAs in multiple brain regions of major psychosis |
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