CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
|
1.000 |
Biomarker
|
disease |
CTD_human |
|
|
|
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
|
1.000 |
Biomarker
|
disease |
BEFREE |
Immunoblotting verified SAC3/FIG4 depletion in CMT4J fibroblasts.
|
31313076 |
2019 |
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations of FIG4 result in the inherited disorders Charcot-Marie-Tooth disease type 4J, Yunis-Varón syndrome, and polymicrogyria with seizures.
|
27292112 |
2016 |
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Whole exome sequencing identifies three recessive FIG4 mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease.
|
24878229 |
2014 |
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Pathogenic mechanism of the FIG4 mutation responsible for Charcot-Marie-Tooth disease CMT4J.
|
21655088 |
2011 |
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations of FIG4 lead to the development of Charcot-Marie-Tooth disease type 4J and amyotrophic lateral sclerosis (ALS).
|
23888880 |
2014 |
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations of human FIG4 cause inherited disorders including Charcot-Marie-Tooth disease type 4J, polymicrogyria with epilepsy, and Yunis-Varón syndrome.
|
29688489 |
2018 |
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Interestingly, FIG4 mutations were previously reported to be responsible for other neurodegenerative diseases such as autosomal recessive Charcot-Marie-Tooth disease type 4J and autosomal dominant amyotrophic lateral sclerosis/primary lateral sclerosis.
|
24088667 |
2013 |
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS.
|
19118816 |
2009 |
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Charcot-Marie-Tooth disease type 4J (OMIM 611228) is a recessive, potentially severe form of the disease caused by mutations of the lipid phosphatase FIG4.
|
21705420 |
2011 |
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J.
|
17572665 |
2007 |
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
|
1.000 |
Biomarker
|
disease |
BEFREE |
Humans with a deficiency of FIG4 (known as Charcot-Marie-Tooth disease type 4J or CMT4J) present with clinical and pathophysiological phenotypes indicative of spinal motor neuron degeneration and segmental demyelination.
|
23165282 |
2013 |
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In contrast, in Charcot-Marie-Tooth disease type 4J (also caused by FIG4 mutations), one of the FIG4 alleles is hypomorphic and disease is limited to the peripheral nervous system.
|
23623387 |
2013 |
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Our study provides evidence for FIG4 as an ALS risk gene in a central European cohort, adds new variants to the mutational spectrum, links ALS to CMT4J on a genetic level, and describes a distinctive ALS phenotype for FIG4 variant carriers.
|
28051077 |
2017 |
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This study extends the spectrum of phenotypes associated with FIG4 mutations to include cortical malformation associated with seizures and psychiatric manifestations, in addition to the previously described Charcot-Marie-Tooth disease type 4J and Yunis-Varón syndrome.
|
24598713 |
2014 |
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Pathogenic mechanism of the FIG4 mutation responsible for Charcot-Marie-Tooth disease CMT4J.
|
21655088 |
2011 |
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
CMT4J secondary to FIG4 mutations should be added to the list of inherited neuropathies that need to be considered in suspected cases of inflammatory demyelinating neuropathy, especially if there is a background history of a more slowly progressive neuropathy.
|
23489662 |
2013 |
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J.
|
17572665 |
2007 |
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J.
|
17572665 |
2007 |
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The lipid phosphatase gene FIG4 is responsible for Yunis-Varón syndrome and Charcot-Marie-Tooth disease Type 4J, a peripheral neuropathy.
|
30740813 |
2019 |
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
|
1.000 |
Biomarker
|
disease |
MGD |
Neuronal expression of Fig4 is both necessary and sufficient to prevent spongiform neurodegeneration.
|
22581779 |
2012 |
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Recessive Charcot-Marie-Tooth disease type-4J (CMT4J) and its animal model, the pale tremor mouse (plt), are caused by mutations of the FIG4 gene encoding a PI(3,5)P(2) 5-phosphatase.
|
18556664 |
2008 |
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Rapidly progressive asymmetrical weakness in Charcot-Marie-Tooth disease type 4J resembles chronic inflammatory demyelinating polyneuropathy.
|
23489662 |
2013 |
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We further demonstrate that mutant Sac3, harboring the pathogenic Ile-to-Thr substitution at position 41 found in patients with CMT4J disorder, is similar to Sac3(WT) with regard to PtdIns(3,5)P(2)-hydrolyzing activity, association with ArPIKfyve, or rapid proteasome-dependent clearance.
|
20630877 |
2010 |
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
ArPIKfyve regulates Sac3 protein abundance and turnover: disruption of the mechanism by Sac3I41T mutation causing Charcot-Marie-Tooth 4J disorder.
|
20630877 |
2010 |