|
GIANT AXONAL NEUROPATHY 1
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Giant axonal neuropathy (GAN), a severe childhood disorder affecting both the peripheral nerves and the central nervous system, is due to mutations in the GAN gene encoding gigaxonin, a protein implicated in the cytoskeletal functions and dynamics.
|
19231187 |
2009 |
|
GIANT AXONAL NEUROPATHY 1
|
0.900 |
Biomarker
|
disease |
MGD |
Despite deficiency of full length gigaxonin, the Gan(Deltaexon1;Deltaexon1) mice do not develop overt neurological phenotypes and giant axons reminiscent of the human GAN disease.
|
18680552 |
2008 |
|
GIANT AXONAL NEUROPATHY 1
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Giant axonal neuropathy caused by a novel compound heterozygous mutation in the gigaxonin gene.
|
23248352 |
2013 |
|
GIANT AXONAL NEUROPATHY 1
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy.
|
11062483 |
2000 |
|
GIANT AXONAL NEUROPATHY 1
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
We report some unusual clinical features associated with GAN and Gigaxonin mutations as well as confirm the heterogeneity in GAN and the identification of two families with manifesting carriers.
|
17578852 |
2007 |
|
GIANT AXONAL NEUROPATHY 1
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Abnormal accumulation of IFs is involved in the pathogenesis of number neurodegenerative diseases, but none as clearly as giant axonal neuropathy (GAN), a ravaging disease caused by mutations in GAN, encoding gigaxonin.
|
27000625 |
2016 |
|
GIANT AXONAL NEUROPATHY 1
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Giant axonal neuropathy (GAN): case report and two novel mutations in the gigaxonin gene.
|
11971098 |
2002 |
|
GIANT AXONAL NEUROPATHY 1
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Here, we show that gigaxonin controls protein degradation of tubulin folding cofactor B (TBCB) , a function disrupted by GAN-associated mutations.
|
16303566 |
2005 |
|
GIANT AXONAL NEUROPATHY 1
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The database search has also shown the presence of identical missense and nonsense gigaxonin mutations in GAN and colon cancer.
|
27023907 |
2016 |
|
GIANT AXONAL NEUROPATHY 1
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
In this family, missense mutation of c.224 T>A and missense mutation of c.1634G>A in GAN gene caused the phenotype of giant axonal neuropathy in the proband.
|
19295179 |
2009 |
|
GIANT AXONAL NEUROPATHY 1
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Giant axonal neuropathy (GAN) is a rare autosomal recessive neurodegenerative disorder caused by mutations in the GAN gene.
|
24273072 |
2014 |
|
GIANT AXONAL NEUROPATHY 1
|
0.900 |
Biomarker
|
disease |
BEFREE |
Gigaxonin (GAN) is a cytoskeletal regulating protein and the genetic cause of giant axonal neuropathy.
|
19782434 |
2011 |
|
GIANT AXONAL NEUROPATHY 1
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Giant axonal neuropathy caused by compound heterozygosity for a maternally inherited microdeletion and a paternal mutation within the GAN gene.
|
20949505 |
2010 |
|
GIANT AXONAL NEUROPATHY 1
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation in the GAN gene causes an intermediate form of giant axonal neuropathy in an Arab-Israeli family.
|
23332420 |
2013 |
|
GIANT AXONAL NEUROPATHY 1
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Giant axonal neuropathy-associated gigaxonin mutations impair intermediate filament protein degradation.
|
23585478 |
2013 |
|
GIANT AXONAL NEUROPATHY 1
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
The absence of curly hair is associated with a milder phenotype in Giant Axonal Neuropathy.
|
23890932 |
2014 |
|
GIANT AXONAL NEUROPATHY 1
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
The authors report two novel mutations confirming that GAN is caused by mutations in the gigaxonin gene and raise the question whether some mutations may cause a mild subclinical neuropathy.
|
11971098 |
2002 |
|
GIANT AXONAL NEUROPATHY 1
|
0.900 |
Biomarker
|
disease |
BEFREE |
Our findings establish gigaxonin as a key E3 ligase that positively controls the initiation of Shh transduction, and reveal the causal role of Shh dysfunction in motor deficits, thus highlighting the developmental origin of GAN.
|
31503551 |
2019 |
|
GIANT AXONAL NEUROPATHY 1
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Identification of seven novel mutations in the GAN gene.
|
12655563 |
2003 |
|
GIANT AXONAL NEUROPATHY 1
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Identification of seven novel mutations in the GAN gene.
|
12655563 |
2003 |
|
GIANT AXONAL NEUROPATHY 1
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Clinical and molecular findings in patients with giant axonal neuropathy (GAN).
|
14718689 |
2004 |
|
GIANT AXONAL NEUROPATHY 1
|
0.900 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
GIANT AXONAL NEUROPATHY 1
|
0.900 |
Biomarker
|
disease |
BEFREE |
These studies demonstrate that gigaxonin gene transfer can reverse the cellular IF aggregate pathology associated with GAN.
|
23316953 |
2013 |
|
GIANT AXONAL NEUROPATHY 1
|
0.900 |
Biomarker
|
disease |
BEFREE |
Indeed, in a set of seven new families presenting a neuropathy resembling GAN/CMT2, only five exhibiting a reduced Gigaxonin abundance have been subsequently genetically linked to GAN.
|
24758703 |
2014 |
|
GIANT AXONAL NEUROPATHY 1
|
0.900 |
Biomarker
|
disease |
MGD |
Mutations in gigaxonin were identified in giant axonal neuropathy (GAN), an autosomal recessive disorder.
|
16565160 |
2006 |