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GAN encodes a member of the cytoskeletal BTB/kelch (Broad-Complex, Tramtrack and Bric a brac) repeat family. Zusätzlich bieten wir Ihnen GAN Kits (10) und GAN Proteine (5) und viele weitere Produktgruppen zu diesem Protein an.
Showing 10 out of 43 products:
Human Polyclonal GAN Primary Antibody für IP - ABIN4314110
Johnson-Kerner, Garcia Diaz, Ekins, Wichterle: Kelch Domain of Gigaxonin Interacts with Intermediate Filament Proteins Affected in Giant Axonal Neuropathy. in PLoS ONE 2015
We demonstrate that gigaxonin is crucial for ubiquitin-proteasomal degradation of neuronal Intermediate filaments. Moreover,Intermediate filaments accumulation impairs mitochondrial motility and is associated with metabolic and oxidative stress
gigaxonin is a major factor in the degradation of cytoskeletal intermediate filaments
GAN variants are identified in brain sections of mutant mice with giant axonal neuropathy.
results identify gigaxonin as a ubiquitin scaffolding protein that controls MAP1B-LC degradation, and provide insight into the molecular mechanisms underlying human neurodegenerative disorders
Disruption of gigaxonin results in an impaired ubiquitin-proteasome system leading to a substantial accumulation of toxic microtubule-associated protein MAP8 in the null mutants.
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.
Our protocol showed high specificity and sensitivity for homozygosity detection and facilitated the identification of novel mutations in GAN, GBA2, and ZFYVE26 in four families affected by hereditary spastic paraplegia or Charcot-Marie-Tooth disease
We believe that molecular and functional investigation of gigaxonin mutations including the exon 8 polymorphism could lead to an improved understanding of the relationship between GAN and cancer
A novel sequence alteration in the gene GAN, c.103G > T, was identified as most likely the underlying cause for a sensory-motor axonal neuropathy in a large consanguineous family presenting as Charcot-Marie-Tooth disease type 2.
a proteomic screen to identify the normal binding partners of GIG, is reported.
The disease is caused by GAN gene mutations on chromosome 16q24.1. To determine clinical and genetic results in Turkish patients with GAN.
This study showed that The instability of Gigaxonin causes Giant Axonal Neuropathy.
A novel missense mutation in four siblings born to consanguineous parents of Arab origin with clinical and molecular features compatible with giant axonal neuropathy.
No GAN variant is identified in DNA obtained from well-characterized cases of human neuronal intermediate filament inclusion disease (frontotemporal dementia).
Gigaxonin interacts with tubulin folding cofactor B and controls its degradation through the ubiquitin-proteasome pathway.
Ubiquitin-proteasome system shown to be responsible for neurodegeneration occurring in GAN-null neurons and plays crucial roles in cytoskeletal functions and dynamics.
3 new mutants were found in patients with giant axonal neuropathy: an intronic mutation near the splice donor site of intron 2 & a missense mutation in exon 3 (I182N), & 2 identical deletion alleles.
Five families with GAN for mutations in the Gigaxonin gene and mutations were found in four families; three families had homozygous mutations, one had two compound heterozygous mutations and one family had no mutation identified.
gigaxonin mutations impede this ubiquitin degradation process leading to accumulation of microtubule associated proteins and there by impairing cellular functions
a functional important part of the gigaxonin protein is altered by the AluYa5 insertion and causes giant axonal neuropathy [case report]
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.
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).
, giant axonal neuropathy
, giant axonal neuropathy (gigaxonin)
, kelch-like family member 16
, kelch-like protein 16