Associated Papers
Engineering precision zebrafish alleles of human disease.
Thomas HR et al.
Biorxiv : the Preprint Server for Biology, 2025
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
Comprehensive evaluation of AlphaMissense predictions by evidence quantification for variants of uncertain significance.
Kurtovic-Kozaric A et al.
Frontiers in Genetics, 2024
Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.
Umerenkov D et al.
Life Science Alliance, 2023
Misfolding of fukutin-related protein (FKRP) variants in congenital and limb girdle muscular dystrophies.
Esapa CT et al.
Frontiers in Molecular Biosciences, 2023
A universal gene correction approach for FKRP-associated dystroglycanopathies to enable autologous cell therapy.
Dhoke NR et al.
Cell Reports, 2021
NAD+ enhances ribitol and ribose rescue of α-dystroglycan functional glycosylation in human FKRP-mutant myotubes.
Ortiz-Cordero C et al.
Elife, 2021
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
Keeping an eye on congenital disorders of O-glycosylation: A systematic literature review.
Francisco R et al.
Journal of Inherited Metabolic Disease, 2019
A limb-girdle muscular dystrophy 2I model of muscular dystrophy identifies corrective drug compounds for dystroglycanopathies.
Serafini PR et al.
Jci Insight, 2018
Mouse models of fukutin-related protein mutations show a wide range of disease phenotypes.
Blaeser A et al.
Human Genetics, 2013
Mislocalization of fukutin protein by disease-causing missense mutations can be rescued with treatments directed at folding amelioration.
Tachikawa M et al.
The Journal of Biological Chemistry, 2012
A homozygous FKRP start codon mutation is associated with Walker-Warburg syndrome, the severe end of the clinical spectrum.
Van Reeuwijk J et al.
Clinical Genetics, 2010
Zebrafish models for human FKRP muscular dystrophies.
Kawahara G et al.
Human Molecular Genetics, 2010
Mutations alter secretion of fukutin-related protein.
Lu PJ et al.
Biochimica Et Biophysica Acta, 2010
Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East.
Manzini MC et al.
Human Mutation, 2008
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
Mutated fukutin-related protein (FKRP) localises as wild type in differentiated muscle cells.
Dolatshad NF et al.
Experimental Cell Research, 2005
Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome.
Beltran-Valero de Bernabé D et al.
Journal of Medical Genetics, 2004