|
GIANT AXONAL NEUROPATHY 1
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Giant axonal neuropathy (GAN) is an autosomal recessive disease caused by mutations in the GAN gene encoding gigaxonin.
|
31655922 |
2020 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
Two novel mutations in the GAN gene causing giant axonal neuropathy.
|
29876741 |
2018 |
|
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 |
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 |
AlteredExpression
|
disease |
BEFREE |
Conversely, silencing the expression of gigaxonin in control fibroblasts leads to changes in IF organization similar to that of GAN patient fibroblasts and a coincident loss of mitochondrial motility.
|
26700320 |
2016 |
|
GIANT AXONAL NEUROPATHY 1
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
Importantly, overexpression of gigaxonin had no adverse effect on survival of GAN neurons, supporting the feasibility of gene replacement therapy.
|
25398950 |
2015 |
|
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 |
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 |
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 |
GeneticVariation
|
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 |
BEFREE |
We describe a toddler with clinical features suggesting giant axonal neuropathy (GAN), whose diagnosis was confirmed by minimally invasive skin biopsy and corroborated by the finding of compound heterozygous mutations involving the GAN gene, including a novel interstitial microdeletion at 16q23.2 detected by microarray and a point mutation detected by direct sequencing.
|
24211141 |
2014 |
|
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 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
Our findings extend the number of gigaxonin mutations that cause giant axonal neuropathy.
|
23248352 |
2013 |
|
GIANT AXONAL NEUROPATHY 1
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Inactivating mutations in GAN cause the autosomal recessive disorder giant axonal neuropathy, not present in our patient.
|
22689534 |
2012 |
|
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 |
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 |
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 |
Biomarker
|
disease |
BEFREE |
Mutations in an identical region of another BTB-Kelch protein, gigaxonin, have previously been associated with giant axonal neuropathy.
|
19520207 |
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 |
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 |