Dysregulation of myelin synthesis and actomyosin function underlies aberrant myelin in CMT4B1 neuropathy.
Animals
Charcot-Marie-Tooth Disease
/ genetics
Mechanistic Target of Rapamycin Complex 1
/ genetics
Mice
Mice, Knockout
Myelin Sheath
/ genetics
Myosin Type II
/ genetics
Phosphatidylinositol Phosphates
/ biosynthesis
Protein Tyrosine Phosphatases, Non-Receptor
/ genetics
Signal Transduction
rhoA GTP-Binding Protein
/ genetics
Charcot-Marie-Tooth neuropathies
Schwann cells
myelin
myotubularin
phosphoinositides
Journal
Proceedings of the National Academy of Sciences of the United States of America
ISSN: 1091-6490
Titre abrégé: Proc Natl Acad Sci U S A
Pays: United States
ID NLM: 7505876
Informations de publication
Date de publication:
09 03 2021
09 03 2021
Historique:
entrez:
3
3
2021
pubmed:
4
3
2021
medline:
17
8
2021
Statut:
ppublish
Résumé
Charcot-Marie-Tooth type 4B1 (CMT4B1) is a severe autosomal recessive demyelinating neuropathy with childhood onset, caused by loss-of-function mutations in the myotubularin-related 2 (
Identifiants
pubmed: 33653949
pii: 2009469118
doi: 10.1073/pnas.2009469118
pmc: PMC7958260
pii:
doi:
Substances chimiques
Phosphatidylinositol Phosphates
0
phosphatidylinositol 3,5-diphosphate
0
Mechanistic Target of Rapamycin Complex 1
EC 2.7.11.1
Mtmr2 protein, mouse
EC 3.1.3.48
Protein Tyrosine Phosphatases, Non-Receptor
EC 3.1.3.48
Myosin Type II
EC 3.6.1.-
RhoA protein, mouse
EC 3.6.5.2
rhoA GTP-Binding Protein
EC 3.6.5.2
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Déclaration de conflit d'intérêts
The authors declare no competing interest.
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