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Gigaxonin

GaN
This gene encodes a member of the cytoskeletal BTB/kelch (Broad-Complex, Tramtrack and Bric a brac) repeat family. The encoded protein plays a role in neurofilament architecture and is involved in mediating the ubiquitination and degradation of some proteins. Defects in this gene are a cause of giant axonal neuropathy (GAN). [provided by RefSeq, Oct 2008] (from NCBI)
Top mentioned proteins: CAN, HAD, ACID, V1a, fibrillin-1
Papers on GaN
ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.
New
Orlacchio et al., Roma, Italy. In Brain, Jan 2016
Besides, we screened for all the known genes related to axonal autosomal recessive Charcot-Marie-Tooth disease (CMT2A2/HMSN2A2/MFN2, CMT2B1/LMNA, CMT2B2/MED25, CMT2B5/NEFL, ARCMT2F/dHMN2B/HSPB1, CMT2K/GDAP1, CMT2P/LRSAM1, CMT2R/TRIM2, CMT2S/IGHMBP2, CMT2T/HSJ1, CMTRID/COX6A1, ARAN-NM/HINT and GAN/GAN), for the genes related to autosomal recessive hereditary spastic paraplegia with thin corpus callosum and axonal peripheral neuropathy (SPG7/PGN, SPG15/ZFYVE26, SPG21/ACP33, SPG35/FA2H, SPG46/GBA2, SPG55/C12orf65 and SPG56/CYP2U1), as well as for the causative gene of peripheral neuropathy with or without agenesis of the corpus callosum (SLC12A6).
Effect of gallium nitrate on the expression of osteoprotegerin and receptor activator of nuclear factor‑κB ligand in osteoblasts in vivo and in vitro.
New
Fu et al., Shenyang, China. In Mol Med Report, Jan 2016
The current study demonstrated that gallium nitrate (GaN) is able to counteract bone loss in an experimental model of established osteoporosis.
Li-Gan-Shi-Liu-Ba-Wei-San improves non-alcoholic fatty liver disease through enhancing lipid oxidation and alleviating oxidation stress.
New
Chen et al., Chongqing, China. In J Ethnopharmacol, Jan 2016
Its representative prescription, Li-Gan-Shi-Liu-Ba-Wei-San (LGSLBWS), is widely used for long-term treatment of chronic liver disease and nonalcoholic fatty liver disease (NAFLD).
Abnormal Intermediate Filament Organization Alters Mitochondrial Motility in Giant Axonal Neuropathy Fibroblasts.
New
Goldman et al., Zürich, Switzerland. In Mol Biol Cell, Jan 2016
UNASSIGNED: Giant Axonal Neuropathy (GAN) is a rare disease caused by mutations in the GAN gene which encodes gigaxonin, an E3 ligase adapter that targets intermediate filament (IF) proteins for degradation in numerous cell types including neurons and fibroblasts.
Determination the active compounds of herbal preparation by UHPLC-MS/MS and its application on the preclinical pharmacokinetics of pure ephedrine, single herbal extract of Ephedra, and a multiple herbal preparation in rats.
New
Tsai et al., Taipei, Taiwan. In J Chromatogr B Analyt Technol Biomed Life Sci, Jan 2016
UNASSIGNED: The herbal preparation Ma-Xing-Gan-Shi-Tang (MXGST) is a popular traditional Chinese formulation that has been used for the treatment of coughs and fevers.
Impurity Resonant States p-type Doping in Wide-Band-Gap Nitrides.
New
Zhang et al., Beijing, China. In Sci Rep, Dec 2015
Specifically, in an AlxGa1-xN/GaN superlattice structure, by modulation doping of Mg in the AlxGa1-xN barriers, high concentration of holes are generated throughout the material.
[Effects of blueberry on apoptosis and expression of Bcl-2 and Bax in HSC-T6].
New
Wu et al., Guiyang, China. In Zhonghua Yi Xue Za Zhi, Sep 2015
METHODS: 10% blueberry serum at low, middle and high dose, 10% Fu-Fang-Bie-Jia-Ruan-Gan tablet serum and 10% saline serum were prepared by method of serum pharmacology.
GaN Haeckelite Single-Layered Nanostructures: Monolayer and Nanotubes.
López-Urías et al., San Luis Potosí, Mexico. In Sci Rep, 2014
First-principles density functional theory calculations are performed in order to investigate the electronic properties of GaN planar and nanotube morphologies based on Haeckelite structures (containing octagonal and square membered rings).
Giant axonal neuropathy: An updated perspective on its pathology and pathogenesis.
Review
Sproule et al., New York City, United States. In Muscle Nerve, 2014
Giant axonal neuropathy (GAN) is a rare pediatric neurodegenerative disease.
Giant axonal neuropathy.
Review
Amouri et al., Tunisia. In Handb Clin Neurol, 2012
Giant axonal neuropathy (GAN) is a rare hereditary autosomal recessive neurodegenerative disease affecting both the peripheral and the central nervous system.
Gigaxonin mutation analysis in patients with NIFID.
GeneRIF
Julien et al., Québec, Canada. In Neurobiol Aging, 2011
GAN variants are identified in brain sections of mutant mice with giant axonal neuropathy.
[(177)Lu]-Labeled [(R)-2-amino-3-(4-isothiocyanatophenyl)propyl]-trans-(S,S)-cyclohexane-1,2-diamine-pentaacetic acid (CHX-A″-DTPA) conjugated monoclonal antibody L8A4 against epidermal growth factor receptor variant III (EGFRvIII)
Review
Chopra, Bethesda, United States. In Unknown Journal, 2011
The generation, structure, functions, and role of EGFRvIII in tumor malignancy was reviewed by Gan et al. (5).
[(125)I]-Labeled monoclonal antibody L8A4 against epidermal growth factor receptor variant III (EGFRvIII)
Review
Chopra, Bethesda, United States. In Unknown Journal, 2011
The generation, structure, functions, and role of EGFRvIII in tumor malignancy was reviewed by Gan et al. (5).
[(177)Lu]-Labeled 2-(4-isothiocyanatobenzyl)-6-methyldiethylene-triaminepentaacetic acid (1B4M-DTPA) conjugated monoclonal antibody L8A4 against epidermal growth factor receptor variant III (EGFRvIII)
Review
Chopra, Bethesda, United States. In Unknown Journal, 2011
The generation, structure, functions, and role of EGFRvIII in tumor malignancy was reviewed by Gan et al. (5).
Gigaxonin controls vimentin organization through a tubulin chaperone-independent pathway.
GeneRIF
Bomont et al., San Diego, United States. In Hum Mol Genet, 2009
Study shows that the gigaxonin E3 ligase subunit is normally expressed at a very low level and that various missense and nonsense mutations scattered across the entire GAN gene produce highly unstable protein products.
Modest loss of peripheral axons, muscle atrophy and formation of brain inclusions in mice with targeted deletion of gigaxonin exon 1.
GeneRIF
Julien et al., Québec, Canada. In J Neurochem, 2008
At 6 months of age the Gigaxonin-knockout(Deltaexon1;Deltaexon1) mice exhibit a modest hind limb muscle atrophy, a 10% decrease of muscle innervation and a 27% axonal loss in the L5 ventral roots.
Clinical, pathological and molecular findings in two siblings with giant axonal neuropathy (GAN): report from India.
GeneRIF
Rautenstrauss et al., Bengaluru, India. In Eur J Med Genet, 2008
a functional important part of the gigaxonin protein is altered by the AluYa5 insertion and causes giant axonal neuropathy [case report]
Genotype-phenotype analysis in patients with giant axonal neuropathy (GAN).
GeneRIF
Kuhlenbäumer et al., Münster, Germany. In Neuromuscul Disord, 2007
gigaxonin mutations impede this ubiquitin degradation process leading to accumulation of microtubule associated proteins and there by impairing cellular functions
Gigaxonin-controlled degradation of MAP1B light chain is critical to neuronal survival.
Impact
GeneRIF
Yang et al., Stanford, United States. In Nature, 2005
results identify gigaxonin as a ubiquitin scaffolding protein that controls MAP1B-LC degradation, and provide insight into the molecular mechanisms underlying human neurodegenerative disorders
The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy.
Impact
Koenig et al., Strasbourg, France. In Nat Genet, 2000
Giant axonal neuropathy (GAN, MIM 256850), a severe, autosomal recessive sensorimotor neuropathy affecting both the peripheral nerves and the central nervous system, is characterized by neurofilament accumulation, leading to segmental distension of the axons.
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