×
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
Charcot-Marie-Tooth Disease
0.700
Biomarker
MGD
A nonsense mutation in myelin protein zero causes congenital hypomyelination neuropathy through altered P0 membrane targeting and gain of abnormal function.
30239779 2019
×
Entrez Id: 54332
Gene Symbol: GDAP1
GDAP1
Charcot-Marie-Tooth Disease
0.700
Biomarker
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
×
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
Charcot-Marie-Tooth Disease
0.700
Biomarker
MGD
We have generated an R98C 'knock-in' mouse model of Charcot-Marie-Tooth type 1B, where a mutation encoding R98C was targeted to the mouse Mpz gene.
22689911 2012
×
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
Charcot-Marie-Tooth Disease
0.700
Biomarker
MGD
Monocyte chemoattractant protein-1 is a pathogenic component in a model for a hereditary peripheral neuropathy.
18326085 2008
×
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
Charcot-Marie-Tooth Disease
0.700
Biomarker
MGD
The formation of peripheral myelin protein 22 aggregates is hindered by the enhancement of autophagy and expression of cytoplasmic chaperones.
17174099 2007
×
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
Charcot-Marie-Tooth Disease
0.700
Biomarker
MGD
Oral curcumin mitigates the clinical and neuropathologic phenotype of the Trembler-J mouse: a potential therapy for inherited neuropathy.
17701891 2007
×
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
Charcot-Marie-Tooth Disease
0.700
Biomarker
MGD
Altered ion channels in an animal model of Charcot-Marie-Tooth disease type IA.
15703401 2005
×
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
Charcot-Marie-Tooth Disease
0.700
Biomarker
MGD
Impaired proteasome activity and accumulation of ubiquitinated substrates in a hereditary neuropathy model.
15748170 2005
×
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
Charcot-Marie-Tooth Disease
0.700
Biomarker
MGD
Nerve conduction abnormalities in the trembler-j mouse: a model for Charcot-Marie-Tooth disease type 1A?
15363066 2004
×
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
Charcot-Marie-Tooth Disease
0.700
Biomarker
MGD
Abnormal Schwann cell/axon interactions in the Trembler-J mouse.
9147228 1997
×
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
Charcot-Marie-Tooth Disease
0.700
Biomarker
MGD
Protein zero (P0)-deficient mice show myelin degeneration in peripheral nerves characteristic of inherited human neuropathies.
7581451 1995
×
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
Charcot-Marie-Tooth Disease
0.700
Biomarker
MGD
Mouse P0 gene disruption leads to hypomyelination, abnormal expression of recognition molecules, and degeneration of myelin and axons.
1384988 1992
×
Entrez Id: 90678
Gene Symbol: LRSAM1
LRSAM1
Charcot-Marie-Tooth Disease
0.680
Biomarker
MGD
We have generated mouse mutations in Lrsam1 to create an animal model of this form of CMT (CMT2P ).
23519028 2013
×
Entrez Id: 9896
Gene Symbol: FIG4
FIG4
Charcot-Marie-Tooth Disease
0.600
Biomarker
MGD
Partial loss-of-function of human FIG4 results in a severe form of Charcot-Marie-Tooth neuropathy.
22581779 2012
×
Entrez Id: 9896
Gene Symbol: FIG4
FIG4
Charcot-Marie-Tooth Disease
0.600
Biomarker
MGD
This novel form of autosomal recessive Charcot-Marie-Tooth disorder is designated CMT4J .
17572665 2007
×
Entrez Id: 79628
Gene Symbol: SH3TC2
SH3TC2
Charcot-Marie-Tooth Disease
0.400
Biomarker
MGD
SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system.
19805030 2009
×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Charcot-Marie-Tooth Disease
0.400
Biomarker
MGD
Homozygous defects in LMNA , encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse.
11799477 2002
×
Entrez Id: 23095
Gene Symbol: KIF1B
KIF1B
Charcot-Marie-Tooth Disease
0.400
Biomarker
MGD
Charcot-Marie-Tooth disease type 2A was previously mapped to an interval containing KIF1B .11389829 2001
×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Charcot-Marie-Tooth Disease
0.400
Biomarker
MGD
Loss of A-type lamin expression compromises nuclear envelope integrity leading to muscular dystrophy.
10579712 1999
×
Entrez Id: 2705
Gene Symbol: GJB1
GJB1
Charcot-Marie-Tooth Disease
0.400
Biomarker
MGD
Mutations in the gene encoding the gap junction protein connexin32 (Cx32 ) cause X-linked Charcot-Marie-Tooth disease (CMTX), a common form of inherited demyelinating peripheral neuropathy.
9700485 1998
×
Entrez Id: 2705
Gene Symbol: GJB1
GJB1
Charcot-Marie-Tooth Disease
0.400
Biomarker
MGD
Mutations affecting the connexin 32 (Cx32 ) gene are associated with the X-linked form of the hereditary peripheral neuropathy Charcot-Marie-Tooth disease (CMTX).
9169515 1997
×
Entrez Id: 2705
Gene Symbol: GJB1
GJB1
Charcot-Marie-Tooth Disease
0.400
Biomarker
MGD
Defective propagation of signals generated by sympathetic nerve stimulation in the liver of connexin32-deficient mice.
8790370 1996
×
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
Charcot-Marie-Tooth Disease
0.400
Biomarker
MGD
×
Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1
Charcot-Marie-Tooth Disease
0.390
Biomarker
MGD
A mutation in the cytoplasmic dynein heavy chain (DHC) gene was discovered to cause an autosomal dominant form of the disease designated Charcot-Marie-Tooth type 2 O disease (CMT2O ) in 2011.
29379136 2018
×
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
Charcot-Marie-Tooth Disease
0.300
Biomarker
MGD
Neurofilament light polypeptide gene N98S mutation in mice leads to neurofilament network abnormalities and a Charcot-Marie-Tooth Type 2E phenotype.25552649 2015