×
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
1.000
GeneticVariation
UNIPROT
Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients.
10737979 2000
×
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
1.000
GeneticVariation
BEFREE
Mutations in P0 , the major protein of the myelin sheath in peripheral nerves, cause the inherited peripheral neuropathies Charcot-Marie-Tooth disease type 1B (CMT1B ), Dejerine-Sottas syndrome (DSS) and congenital hypomyelination (CH).
12450416 2002
×
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
1.000
GeneticVariation
UNIPROT
Deletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot-Marie-Tooth disease type 1B .
7693130 1993
×
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
1.000
GeneticVariation
BEFREE
While mutation in the gene encoding the major myelin protein, P0 has been associated with CMT1B , CMT1A and HNPP have been shown to be associated with reciprocal recombination events leading either to a large submicroscopic duplication in CMT1A, or the corresponding DNA deletion in HNPP.
7515304 1994
×
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
1.000
CausalMutation
CLINVAR
Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene.
7693129 1993
×
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
1.000
CausalMutation
CLINVAR
Two divergent types of nerve pathology in patients with different P0 mutations in Charcot-Marie-Tooth disease.
8797476 1996
×
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
1.000
CausalMutation
CLINVAR
Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.
11835375 2002
×
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
1.000
GeneticVariation
BEFREE
A novel MPZ mutation in Charcot-Marie-Tooth disease type 1B with focally folded myelin and multiple entrapment neuropathies.
21940171 2012
×
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
1.000
GeneticVariation
BEFREE
Similarly, defects of the myelin protein P0 gene on chromosome 1 have been demonstrated in a rarer form of Charcot-Marie-Tooth disease (CMT1B ).
8881991 1996
×
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
1.000
GeneticVariation
BEFREE
Focally folded myelin in Charcot-Marie-Tooth neuropathy type 1B with Ser49Leu in the myelin protein zero .
10965800 2000
×
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
1.000
Biomarker
CTD_human
×
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
1.000
CausalMutation
CLINVAR
Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian families.
11438991 2001
×
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
1.000
CausalMutation
CLINVAR
Phenotypic clustering in MPZ mutations.
14711881 2004
×
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
1.000
GeneticVariation
UNIPROT
Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene.
7693129 1993
×
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
1.000
Biomarker
GENOMICS_ENGLAND
×
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
1.000
Biomarker
BEFREE
Here, we used a mouse model of Charcot-Marie-Tooth neuropathy type 1B (CMT1B ), the P0S63del mouse characterized by ER stress and the activation of the unfolded protein response, to show that adult Schwann cells are in a partial differentiation state because they overexpress transcription factors that are normally expressed only before myelination.
29610440 2018
×
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
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
Charcot-Marie-Tooth Disease, Type Ib
1.000
GeneticVariation
BEFREE
Generation of a human Charcot-Marie-Tooth disease type 1B (CMT1B ) iPSC line, ZJUCHi001-A, with a mutation of c.292C>T in MPZ .
30785048 2019
×
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
1.000
GeneticVariation
UNIPROT
A novel mutation, Thr65Ala, in the MPZ gene in a patient with Charcot-Marie-Tooth type 1B disease with focally folded myelin.
15036333 2004
×
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
1.000
GeneticVariation
UNIPROT
A novel MPZ gene mutation in dominantly inherited neuropathy with focally folded myelin sheaths.
10214757 1999
×
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
1.000
GeneticVariation
UNIPROT
Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations.
12402337 2002
×
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
1.000
GeneticVariation
BEFREE
Charcot-Marie-Tooth disease type 1B is associated with mutations in the myelin protein zero gene.17143884 2007
×
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
1.000
GeneticVariation
UNIPROT
Novel mutation of the myelin P0 gene in a CMT1B family.
8990016 1997
×
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
1.000
CausalMutation
CLINVAR
Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies.
9187667 1997
×
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
1.000
GeneticVariation
BEFREE
Mutations in the myelin protein zero gene (MPZ) are associated with certain demyelinating neuropathies, and in particular with Charcot-Marie-Tooth disease type 1B (CMT1B ), Dejerine-Sottas syndrome, and congenital hypomyelination.
15170620 2004