Article
Human myelin protein P2: from crystallography to time-lapse membrane imaging and neuropathy-associated variants.
The FEBS journal - 1 Dec 2021
Uusitalo Maiju, Klenow Martin Berg, Laulumaa Saara, Blakeley Matthew P, Simonsen Adam Cohen, Ruskamo Salla, Kursula Petri
Abstract excerpt
Peripheral myelin protein 2 (P2) is a fatty acid-binding protein expressed in vertebrate peripheral nervous system myelin, as well as in human astrocytes. Suggested functions of P2 include membrane stacking and lipid transport. Mutations in the PMP2 gene, encoding P2, are associated with Charcot-Marie-Tooth disease (CMT). Recent studies have revealed three novel PMP2 mutations in CMT patients. To shed light on...
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