Misfolding of fukutin-related protein (FKRP) variants in congenital and limb girdle muscular dystrophies

Misfolding of fukutin-related protein (FKRP) variants in congenital and limb girdle muscular dystrophies

Fukutin-related protein (FKRP, MIM ID 606596) variants cause a range of muscular dystrophies associated with hypo-glycosylation of the matrix receptor, α-dystroglycan. These disorders are almost exclusively caused by homozygous or compound heterozygous missense variants in the FKRP gene that encodes...

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Bibliographic Details
Main Authors: Christopher T. Esapa, R. A. Jeffrey McIlhinney, Adrian J. Waite, Matthew A. Benson, Jasmin Mirzayan, Henriett Piko, Ágnes Herczegfalvi, Rita Horvath, Veronika Karcagi, Maggie C. Walter, Hanns Lochmüller, Pierre J. Rizkallah, Qi L. Lu, Derek J. Blake
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-12-01
Series:Frontiers in Molecular Biosciences
Subjects:
fukutin-related protein
muscular dystrophy
protein misfolding
missense mutation
chaperone
structural modelling
Online Access:https://www.frontiersin.org/articles/10.3389/fmolb.2023.1279700/full

Internet

https://www.frontiersin.org/articles/10.3389/fmolb.2023.1279700/full

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