Associated Papers
Saturation mutagenesis-reinforced functional assays for disease-related genes.
Ma K et al.
Cell, 2024
Deep Mutational Scanning in Disease-related Genes with Saturation Mutagenesis-Reinforced Functional Assays (SMuRF).
Ma K et al.
Biorxiv : the Preprint Server for Biology, 2024
Description of novel variants in consanguineous Pakistani families affected with intellectual disability.
Rasool IG et al.
Genes & Genomics, 2023
Misfolding of fukutin-related protein (FKRP) variants in congenital and limb girdle muscular dystrophies.
Esapa CT et al.
Frontiers in Molecular Biosciences, 2023
Crystal structures of fukutin-related protein (FKRP), a ribitol-phosphate transferase related to muscular dystrophy.
Kuwabara N et al.
Nature Communications, 2020
Functional and cellular localization diversity associated with Fukutin-related protein patient genetic variants.
Henriques SF et al.
Human Mutation, 2019
AAV-mediated transfer of FKRP shows therapeutic efficacy in a murine model but requires control of gene expression.
Gicquel E et al.
Human Molecular Genetics, 2017
Mouse models of fukutin-related protein mutations show a wide range of disease phenotypes.
Blaeser A et al.
Human Genetics, 2013
Mutations alter secretion of fukutin-related protein.
Lu PJ et al.
Biochimica Et Biophysica Acta, 2010
Fukutin-related protein localizes to the Golgi apparatus and mutations lead to mislocalization in muscle in vivo.
Keramaris-Vrantsis E et al.
Muscle & Nerve, 2007
The dystroglycanopathies: the new disorders of O-linked glycosylation.
Martin PT
Seminars in Pediatric Neurology, 2005
Fukutin-related protein mutations that cause congenital muscular dystrophy result in ER-retention of the mutant protein in cultured cells.
Esapa CT et al.
Human Molecular Genetics, 2005
Glycosylation defects and muscular dystrophy.
Blake DJ et al.
Advances in Experimental Medicine and Biology, 2005
FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts.
Topaloglu H et al.
Neurology, 2003
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