scholarly journals Rer1 and calnexin regulate endoplasmic reticulum retention of a peripheral myelin protein 22 mutant that causes type 1A Charcot-Marie-Tooth disease

2014 ◽  
Vol 4 (1) ◽  
Author(s):  
Taichi Hara ◽  
Yukiko Hashimoto ◽  
Tomoko Akuzawa ◽  
Rika Hirai ◽  
Hisae Kobayashi ◽  
...  
Keyword(s):  
Endoplasmic Reticulum ◽  
Myelin Protein ◽  
Peripheral Myelin Protein 22 ◽  
Peripheral Myelin Protein ◽  
Charcot Marie Tooth ◽  
Endoplasmic Reticulum Retention ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

scholarly journals Novel peripheral myelin protein 22 (PMP22) micromutations associated with variable phenotypes in Greek patients with Charcot-Marie-Tooth disease

Brain ◽  
2012 ◽  
Vol 135 (8) ◽  
pp. e217-e217 ◽  
Author(s):  
G. Koutsis ◽  
A. Pandraud ◽  
J. M. Polke ◽  
N. W. Wood ◽  
M. Panas ◽  
...  
Keyword(s):  
Myelin Protein ◽  
Peripheral Myelin Protein 22 ◽  
Peripheral Myelin Protein ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

A novel point mutation in the peripheral myelin protein 22 (PMP22) gene associated with Charcot-Marie-Tooth disease type 1A

Neurology ◽  
1997 ◽  
Vol 48 (2) ◽  
pp. 489-493 ◽  
Author(s):  
M. G. Marrosu ◽  
S. Vaccargiu ◽  
G. Marrosu ◽  
A. Vannelli ◽  
C. Cianchetti ◽  
...  
Keyword(s):  
Point Mutation ◽  
Disease Type ◽  
Myelin Protein ◽  
Pmp22 Gene ◽  
Peripheral Myelin Protein 22 ◽  
Peripheral Myelin Protein ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

scholarly journals Downregulation of the human peripheral myelin protein 22 gene by miR-29a in cellular models of Charcot–Marie–Tooth disease

Gene Therapy ◽  
2019 ◽  
Vol 26 (12) ◽  
pp. 455-464 ◽  
Author(s):  
Jacquelyn Serfecz ◽  
Hannah Bazick ◽  
Mohammed Omar Al Salihi ◽  
Peter Turner ◽  
Christopher Fields ◽  
...  
Keyword(s):  
Myelin Protein ◽  
Peripheral Myelin Protein 22 ◽  
Peripheral Myelin Protein ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Cellular Models ◽  
Tooth Disease
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