Charcot-Marie-Tooth Disease
|
0.700 |
Biomarker
|
disease |
BEFREE |
In this review, we summarize the different functions proposed for GDAP1 and focus on the consequences for Ca<sup>2+</sup> homeostasis and mitochondrial energy production linked to CMT disease caused by different <i>GDAP1</i> mutations.
|
30669311 |
2019 |
Charcot-Marie-Tooth Disease
|
0.700 |
Biomarker
|
disease |
BEFREE |
In summary, we demonstrate that inflammation in spinal cord and sciatic nerve, but not in brain and cerebellum, is part of the pathophysiology of axonal GDAP1-related CMT.
|
31271761 |
2019 |
Charcot-Marie-Tooth Disease
|
0.700 |
Biomarker
|
disease |
BEFREE |
Charcot-Marie-Tooth type 4 (CMT4) is an autosomal recessive severe form of neuropathy with genetic heterogeneity.
|
31680794 |
2019 |
Charcot-Marie-Tooth Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
SBF1 missense mutations were shown to underlie Charcot-Marie-Tooth (CMT) type 4B3 disease, a rare autosomal recessive subtype of CMT4.
|
30039846 |
2018 |
Charcot-Marie-Tooth Disease
|
0.700 |
Biomarker
|
disease |
BEFREE |
The early onset of the disease, the distal and proximal weakness and atrophy leading to major disability, along with areflexia, and, most notably, vocal cord and diaphragm paralysis were highly evocative of a GDAP1-related CMT.
|
29396836 |
2018 |
Charcot-Marie-Tooth Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Our study expands the mutational spectrum of GDAP1-related CMT disease with the identification of new and unreported GDAP1 variants and demonstrates the predominance of the axonal form of neuropathy in CMT disease associated with GDAP1.
|
29372391 |
2018 |
Charcot-Marie-Tooth Disease
|
0.700 |
Biomarker
|
disease |
BEFREE |
A further part is the characterization of GDAP1‑associated Charcot-Marie-Tooth disease, its symptoms and course, as well as an outlining of the possible mechanisms underpinning the disorder.
|
29694336 |
2018 |
Charcot-Marie-Tooth Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Brain involvement in Charcot-Marie-Tooth disease due to ganglioside-induced differentiation associated-protein 1 mutation.
|
28673555 |
2017 |
Charcot-Marie-Tooth Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the GDAP1 gene can cause Charcot-Marie-Tooth disease.
|
28751717 |
2017 |
Charcot-Marie-Tooth Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Some forms of Charcot-Marie-Tooth are due to mutations in the GDAP1 gene.
|
28065847 |
2017 |
Charcot-Marie-Tooth Disease
|
0.700 |
Biomarker
|
disease |
BEFREE |
Our study originally described the mutational spectrum and clinical features of GDAP1-related CMT patients in Japan.
|
28244113 |
2017 |
Charcot-Marie-Tooth Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Generation of a disease-specific iPS cell line derived from a patient with Charcot-Marie-Tooth type 2K lacking functional GDAP1 gene.
|
28395795 |
2017 |
Charcot-Marie-Tooth Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the ganglioside-induced differentiation-associated protein 1 gene (GDAP1) cause rare subtypes of Charcot-Marie-Tooth disease (CMT2K and CMT4A).
|
28495047 |
2017 |
Charcot-Marie-Tooth Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The results suggest that CMT neurons may be under energetic constraints upon stimulation by Ca<sup>2+</sup> mobilization agonists and point to a potential role of perturbed mitochondria-ER interaction related to energy metabolism in forms of CMT caused by some of the recessive or null mutations of GDAP1.
|
28220846 |
2017 |
Charcot-Marie-Tooth Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Phenotypical features of a new dominant GDAP1 pathogenic variant (p.R226del) in axonal Charcot-Marie-Tooth disease.
|
28236508 |
2017 |
Charcot-Marie-Tooth Disease
|
0.700 |
Biomarker
|
disease |
BEFREE |
Mutations had different penetrances in the families; the onset of symptoms is in the first decade and progression is slower than usually seen in GDAP1-related AR-CMT.
|
26525999 |
2016 |
Charcot-Marie-Tooth Disease
|
0.700 |
Biomarker
|
disease |
MGD |
The development and characterization of the GDAP1 neuropathy mice model thus revealed that some of the pathophysiological changes present in axonal recessive form of the GDAP1-related CMT might be the consequence of changes in the mitochondrial network biology and mitochondria-endoplasmic reticulum interaction leading to abnormalities in calcium homeostasis.
|
25860513 |
2015 |
Charcot-Marie-Tooth Disease
|
0.700 |
Biomarker
|
disease |
BEFREE |
GDAP1 mutations also alter fission, fusion and transport of mitochondria and are associated either with recessive demyelinating (CMT4A) and axonal CMT (AR-CMT2K) and, less commonly, with dominant, milder, axonal CMT (CMT2K).
|
25847151 |
2015 |
Charcot-Marie-Tooth Disease
|
0.700 |
Biomarker
|
disease |
BEFREE |
Junctophilin-1 is a modifier gene of GDAP1-related Charcot-Marie-Tooth disease.
|
25168384 |
2015 |
Charcot-Marie-Tooth Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
To evaluate, by skin biopsy, dermal nerve fibers in 31 patients with 3 common Charcot-Marie-Tooth (CMT) genotypes (CMT1A, late-onset CMT1B, and CMTX1), and rarer forms of CMT caused by mutations in RAB7 (CMT2B), TRPV4 (CMT2C), and GDAP1 (AR-CMT2K) genes.
|
26362287 |
2015 |
Charcot-Marie-Tooth Disease
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Mitochondrial defects and neuromuscular degeneration caused by altered expression of Drosophila Gdap1: implications for the Charcot-Marie-Tooth neuropathy.
|
25122658 |
2015 |
Charcot-Marie-Tooth Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Exome sequencing reveals mutations in MFN2 and GDAP1 in severe Charcot-Marie-Tooth disease.
|
25403865 |
2014 |
Charcot-Marie-Tooth Disease
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy.
|
25614874 |
2014 |
Charcot-Marie-Tooth Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Otherwise, while demyelinating autosomal recessive CMT used to be classified as CMT4 (A, B, C …), we propose a simplified classification such as AR CMT1 (A, B, C …), and AR CMT2 for axonal forms.
|
25454638 |
2014 |
Charcot-Marie-Tooth Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Our study shows that at least some GDAP1 gene mutations may segregate with the CMT phenotype as both dominant and recessive traits.
|
25337607 |
2014 |