(Q50553666)

15 March 2018

title

Cellular characterization of MPZ mutations presenting with diverse clinical phenotypes. (English)

1 reference

15 March 2018

author

Yi-Chung Lee

1

1 reference

15 March 2018

author name string

Kon-Ping Lin

2

1 reference

15 March 2018

Ming-Hong Chang

3

1 reference

15 March 2018

Yi-Chu Liao

4

1 reference

15 March 2018

Ching-Piao Tsai

5

1 reference

15 March 2018

Kwong-Kum Liao

6

1 reference

15 March 2018

Bing-Wen Soong

7

1 reference

15 March 2018

publication date

12 May 2010

1 reference

15 March 2018

published in

Journal of Neurology

1 reference

15 March 2018

volume

257

1 reference

15 March 2018

issue

10

1 reference

15 March 2018

page(s)

1661-1668

1 reference

15 March 2018

https://scigraph.springernature.com/pub.10.1007/s00415-010-5590-8

exact match

0 references

cites work

Curcumin treatment abrogates endoplasmic reticulum retention and aggregation-induced apoptosis associated with neuropathy-causing myelin protein zero-truncating mutants.

1 reference

12 December 2020

Myelin sheaths: glycoproteins involved in their formation, maintenance and degeneration

1 reference

12 December 2020

Dominant-negative effect on adhesion by myelin Po protein truncated in its cytoplasmic domain

1 reference

12 December 2020

An axonal form of Charcot-Marie-Tooth disease showing distinctive features in association with mutations in the peripheral myelin protein zero gene (Thr124Met or Asp75Val).

1 reference

12 December 2020

New mutation of the MPZ gene in a family with the Dejerine-Sottas disease phenotype.

1 reference

12 December 2020

The role of complex carbohydrates in adhesion of the myelin protein, P0

1 reference

12 December 2020

Phenotypic differences between peripheral myelin protein-22 (PMP22) and myelin protein zero (P0) mutations associated with Charcot-Marie-Tooth-related diseases

1 reference

12 December 2020

Phenotypic clustering in MPZ mutations

1 reference

12 December 2020

Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene

1 reference

12 December 2020

Median nerve motor conduction velocity is concordant with myelin protein zero gene mutation

1 reference

12 December 2020

Ablation of the UPR-mediator CHOP restores motor function and reduces demyelination in Charcot-Marie-Tooth 1B mice

1 reference

12 December 2020

Tracing myelin protein zero (P0) in vivo by construction of P0-GFP fusion proteins

1 reference

12 December 2020

Altered trafficking and adhesion function of MPZ mutations and phenotypes of Charcot-Marie-Tooth disease 1B.

1 reference

12 December 2020

Protein zero (P0)-deficient mice show myelin degeneration in peripheral nerves characteristic of inherited human neuropathies

1 reference

12 December 2020

Crystal structure of the extracellular domain from P0, the major structural protein of peripheral nerve myelin

1 reference

12 December 2020

Protein composition of myelin of the peripheral nervous system

1 reference

12 December 2020

Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene

1 reference

12 December 2020

Different cellular and molecular mechanisms for early and late-onset myelin protein zero mutations

1 reference

12 December 2020

The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype

1 reference

12 December 2020

Recombinant peripheral myelin protein Po confers both adhesion and neurite outgrowth-promoting properties

1 reference

12 December 2020

Mutations in the cytoplasmic domain of P0 reveal a role for PKC-mediated phosphorylation in adhesion and myelination

1 reference

12 December 2020

Isolation and analysis of the gene encoding peripheral myelin protein zero

1 reference

12 December 2020

The cytoplasmic domain of myelin glycoprotein P0 interacts with negatively charged phospholipid bilayers

1 reference

12 December 2020

MPZ mutation G123S characterization: evidence for a complex pathogenesis in CMT disease.

1 reference

12 December 2020

Protein zero of peripheral nerve myelin: biosynthesis, membrane insertion, and evidence for homotypic interaction.

1 reference

12 December 2020

Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination

1 reference

12 December 2020

Myelin protein zero: mutations in the cytoplasmic domain interfere with its cellular trafficking

1 reference

12 December 2020

Transcriptional and translational control in the Mammalian unfolded protein response

1 reference

12 December 2020

Different Intracellular Pathomechanisms Produce Diverse Myelin Protein Zero Neuropathies in Transgenic Mice

1 reference

12 December 2020

10.1007/S00415-010-5590-8

Identifiers

DOI

1 reference

15 March 2018

1 reference

15 March 2018