Unraveling the etiology of myelin disorders: the P2 case in Charcot–Marie–Tooth disease

Autor:	Guillermo G. Montich, Julio Pusterla, Rafael G. Oliveira
Rok vydání:	2021
Předmět:	Genetics Mutant Proteins Cell Biology Disease Biology Biochemistry Protein tertiary structure Fatty acid-binding protein Myelin Tooth disease medicine.anatomical_structure nervous system Charcot-Marie-Tooth Disease Peripheral nervous system Mutation medicine Etiology Humans Molecular Biology Myelin Sheath
Zdroj:	The FEBS Journal. 288:6677-6679
ISSN:	1742-4658 1742-464X
Popis:	There are several examples of single mutations that lead to a well-defined disease through a well-known mechanism. In other cases, a collection of mutations of the same protein produces a pathology with different degrees of severity. The accompanying work by Uusitalo et al. studies several mutants of the fatty acid binding protein P2 of the peripheral nervous system myelin. They conserve the native tertiary structure but a remarkable difference in the capacity to interact with lipids. This could be a clue to unravel the complex way in which these mutations affect myelin structure and function in a variant of Charcot-Marie-Tooth disease. Comment on: https://doi.org/10.1111/febs.16079.
Databáze:	OpenAIRE
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