×
Entrez Id:
4359
Gene Symbol:
MPZ
MPZ
Dejerine-Sottas Disease (disorder)
1.000
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:
4359
Gene Symbol:
MPZ
MPZ
Dejerine-Sottas Disease (disorder)
1.000
Biomarker
MGD
MpzR98C arrests Schwann cell development in a mouse model of early-onset Charcot-Marie-Tooth disease type 1B.
22689911
2012
×
Entrez Id:
4359
Gene Symbol:
MPZ
MPZ
Dejerine-Sottas Disease (disorder)
1.000
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
Dejerine-Sottas Disease (disorder)
1.000
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
Dejerine-Sottas Disease (disorder)
1.000
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
Dejerine-Sottas Disease (disorder)
1.000
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
Dejerine-Sottas Disease (disorder)
1.000
Biomarker
MGD
Impaired proteasome activity and accumulation of ubiquitinated substrates in a hereditary neuropathy model.
15748170
2005
×
Entrez Id:
5376
Gene Symbol:
PMP22
PMP22
Dejerine-Sottas Disease (disorder)
1.000
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
Dejerine-Sottas Disease (disorder)
1.000
Biomarker
MGD
Abnormal Schwann cell/axon interactions in the Trembler-J mouse.
9147228
1997
×
Entrez Id:
4359
Gene Symbol:
MPZ
MPZ
Dejerine-Sottas Disease (disorder)
1.000
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
Dejerine-Sottas Disease (disorder)
1.000
Biomarker
MGD
Mouse P0 gene disruption leads to hypomyelination, abnormal expression of recognition molecules, and degeneration of myelin and axons.
1384988
1992
×
Entrez Id:
1959
Gene Symbol:
EGR2
EGR2
Dejerine-Sottas Disease (disorder)
0.940
Biomarker
MGD
Congenital hypomyelinating neuropathy with lethal conduction failure in mice carrying the Egr2 I268N mutation.
19244508
2009
×
Entrez Id:
1959
Gene Symbol:
EGR2
EGR2
Dejerine-Sottas Disease (disorder)
0.940
Biomarker
MGD
Analysis of congenital hypomyelinating Egr2Lo/Lo nerves identifies Sox2 as an inhibitor of Schwann cell differentiation and myelination.
15695336
2005
×
Entrez Id:
1959
Gene Symbol:
EGR2
EGR2
Dejerine-Sottas Disease (disorder)
0.940
Biomarker
MGD
Nab proteins are essential for peripheral nervous system myelination.
16136673
2005
×
Entrez Id:
2705
Gene Symbol:
GJB1
GJB1
Dejerine-Sottas Disease (disorder)
0.630
Biomarker
MGD
Connexin32-null mice develop demyelinating peripheral neuropathy.
9700485
1998
×
Entrez Id:
2705
Gene Symbol:
GJB1
GJB1
Dejerine-Sottas Disease (disorder)
0.630
Biomarker
MGD
Structural abnormalities and deficient maintenance of peripheral nerve myelin in mice lacking the gap junction protein connexin 32.
9169515
1997
×
Entrez Id:
2705
Gene Symbol:
GJB1
GJB1
Dejerine-Sottas Disease (disorder)
0.630
Biomarker
MGD
Defective propagation of signals generated by sympathetic nerve stimulation in the liver of connexin32-deficient mice.
8790370
1996
×
Entrez Id:
23095
Gene Symbol:
KIF1B
KIF1B
Dejerine-Sottas Disease (disorder)
0.230
Biomarker
MGD
Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta.
11389829
2001
×
Entrez Id:
55526
Gene Symbol:
DHTKD1
DHTKD1
Dejerine-Sottas Disease (disorder)
0.200
Biomarker
MGD
DHTKD1 Deficiency Causes Charcot-Marie-Tooth Disease in Mice.
29661920
2018
×
Entrez Id:
1778
Gene Symbol:
DYNC1H1
DYNC1H1
Dejerine-Sottas Disease (disorder)
0.200
Biomarker
MGD
A novel mouse model carrying a human cytoplasmic dynein mutation shows motor behavior deficits consistent with Charcot-Marie-Tooth type 2O disease.
29379136
2018
×
Entrez Id:
4747
Gene Symbol:
NEFL
NEFL
Dejerine-Sottas Disease (disorder)
0.200
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
×
Entrez Id:
54332
Gene Symbol:
GDAP1
GDAP1
Dejerine-Sottas Disease (disorder)
0.200
Biomarker
MGD
Lack of GDAP1 induces neuronal calcium and mitochondrial defects in a knockout mouse model of charcot-marie-tooth neuropathy.
25860513
2015
×
Entrez Id:
1337
Gene Symbol:
COX6A1
COX6A1
Dejerine-Sottas Disease (disorder)
0.200
Biomarker
MGD
A mutation of COX6A1 causes a recessive axonal or mixed form of Charcot-Marie-Tooth disease.
25152455
2014
×
Entrez Id:
90678
Gene Symbol:
LRSAM1
LRSAM1
Dejerine-Sottas Disease (disorder)
0.200
Biomarker
MGD
Loss of the E3 ubiquitin ligase LRSAM1 sensitizes peripheral axons to degeneration in a mouse model of Charcot-Marie-Tooth disease.
23519028
2013
×
Entrez Id:
9896
Gene Symbol:
FIG4
FIG4
Dejerine-Sottas Disease (disorder)
0.200
Biomarker
MGD
Neuronal expression of Fig4 is both necessary and sufficient to prevent spongiform neurodegeneration.
22581779
2012