Charcot-Marie-Tooth disease, Type 4B1
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Whole-Exome Sequencing Identifies a Novel Homozygous Frameshift Mutation in the MTMR2 Gene as a Causative Mutation in a Patient with Charcot-Marie-Tooth Disease Type 4B1.
|
28509084 |
2018 |
Charcot-Marie-Tooth disease, Type 4B1
|
1.000 |
Biomarker
|
disease |
BEFREE |
Here, we tested whether the closest homologues of MTM1, MTMR1, and MTMR2 (the latter being implicated in Charcot-Marie-Tooth neuropathy type 4B1) are functionally redundant and could represent a therapeutic target for XLMTM.
|
29408998 |
2018 |
Charcot-Marie-Tooth disease, Type 4B1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Whole-Exome Sequencing Identifies a Novel Homozygous Frameshift Mutation in the MTMR2 Gene as a Causative Mutation in a Patient with Charcot-Marie-Tooth Disease Type 4B1.
|
28509084 |
2018 |
Charcot-Marie-Tooth disease, Type 4B1
|
1.000 |
Biomarker
|
disease |
BEFREE |
Combined, our data warrant further investigation of the truncated MTMR2 protein isoform in Schwann cells and in CMT4B1 pathogenesis.
|
27466180 |
2016 |
Charcot-Marie-Tooth disease, Type 4B1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The CMT4B disease-causing phosphatases Mtmr2 and Mtmr13 localize to the Schwann cell cytoplasm and endomembrane compartments, where they depend upon each other to achieve wild-type levels of protein expression.
|
23297362 |
2013 |
Charcot-Marie-Tooth disease, Type 4B1
|
1.000 |
Biomarker
|
disease |
BEFREE |
Given the genetic association of both MTMR2 and MTMR13 with CMT4B, we investigated the biochemical relationship between these two proteins.
|
15998640 |
2005 |
Charcot-Marie-Tooth disease, Type 4B1
|
1.000 |
Biomarker
|
disease |
MGD |
An animal model for Charcot-Marie-Tooth disease type 4B1.
|
16249189 |
2005 |
Charcot-Marie-Tooth disease, Type 4B1
|
1.000 |
Biomarker
|
disease |
MGD |
Disruption of Mtmr2 produces CMT4B1-like neuropathy with myelin outfolding and impaired spermatogenesis.
|
15557122 |
2004 |
Charcot-Marie-Tooth disease, Type 4B1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the myotubularin (MTM)-related protein 2 (MTMR2) gene are responsible for the severe autosomal recessive neuropathy Charcot-Marie-Tooth disease type 4B1.
|
14530412 |
2003 |
Charcot-Marie-Tooth disease, Type 4B1
|
1.000 |
Biomarker
|
disease |
BEFREE |
MTM1, the first identified member of this family, and MTMR2 are responsible for X-linked myotubular myopathy and Charcot-Marie-Tooth disease type 4B1, an isolated peripheral neuropathy with myelin outfoldings, respectively.Both encode active phosphatases.
|
12687498 |
2003 |
Charcot-Marie-Tooth disease, Type 4B1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A novel homozygous missense mutation in the myotubularin-related protein 2 gene associated with recessive Charcot-Marie-Tooth disease with irregularly folded myelin sheaths.
|
12398840 |
2002 |
Charcot-Marie-Tooth disease, Type 4B1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Myotubularin and MTMR2, phosphatidylinositol 3-phosphatases mutated in myotubular myopathy and type 4B Charcot-Marie-Tooth disease.
|
11733541 |
2002 |
Charcot-Marie-Tooth disease, Type 4B1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Our results suggest that loss-of-function mutations in MTMR2 are preferentially associated with the CMT4B phenotype.
|
11354824 |
2001 |
Charcot-Marie-Tooth disease, Type 4B1
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Using a positional-cloning strategy, we identified in unrelated CMT4B patients mutations occurring in the gene MTMR2, encoding myotubularin-related protein-2, a dual specificity phosphatase (DSP).
|
10802647 |
2000 |
Charcot-Marie-Tooth disease, Type 4B1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Using a positional-cloning strategy, we identified in unrelated CMT4B patients mutations occurring in the gene MTMR2, encoding myotubularin-related protein-2, a dual specificity phosphatase (DSP).
|
10802647 |
2000 |
Charcot-Marie-Tooth disease, Type 4B1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In addition, a search for mutations in patients affected with CMT4B as well as a refined physical localisation excludes SCN2B as the CMT4B gene.
|
9887383 |
1999 |
Charcot-Marie-Tooth disease, Type 4B1
|
1.000 |
Biomarker
|
disease |
CTD_human |
|
|
|
Charcot-Marie-Tooth disease, Type 4B1
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Charcot-Marie-Tooth disease, Type 4B1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
|
|
|