Dystroglycanopathy: from elucidation of molecular and pathological mechanisms to development of treatment methods
M Kanagawa - International Journal of Molecular Sciences, 2021 - mdpi.com
Dystroglycanopathy is a collective term referring to muscular dystrophies with abnormal
glycosylation of dystroglycan. At least 18 causative genes of dystroglycanopathy have been …
glycosylation of dystroglycan. At least 18 causative genes of dystroglycanopathy have been …
Generation of human myogenic progenitors from pluripotent stem cells for in vivo regeneration
H Kim, RCR Perlingeiro - Cellular and Molecular Life Sciences, 2022 - Springer
Muscular dystrophy encompasses a large number of heterogeneous genetic disorders
characterized by progressive and devastating muscle wasting. Cell-based replacement …
characterized by progressive and devastating muscle wasting. Cell-based replacement …
Crispr-cas9 ko cell line generation and development of a cell-based potency assay for raav-fkrp gene therapy
M Geoffroy, L Pili, V Buffa, M Caroff, A Bigot, E Gicquel… - Cells, 2023 - mdpi.com
Limb-Girdle Muscular Dystrophy R9 (LGMDR9) is a dystroglycanopathy caused by Fukutin-
related protein (FKRP) defects leading to the deficiency of α-DG glycosylation, essential to …
related protein (FKRP) defects leading to the deficiency of α-DG glycosylation, essential to …
Metabolic Changes during In Vivo Maturation of PSC-Derived Skeletal Myogenic Progenitors
In vitro-generated pluripotent stem cell (PSC)-derived Pax3-induced (iPax3) myogenic
progenitors display an embryonic transcriptional signature, but upon engraftment, the profile …
progenitors display an embryonic transcriptional signature, but upon engraftment, the profile …
The adult environment promotes the transcriptional maturation of human iPSC-derived muscle grafts
Pluripotent stem cell (PSC)-based cell therapy is an attractive option for the treatment of
multiple human disorders, including muscular dystrophies. While in vitro differentiating PSCs …
multiple human disorders, including muscular dystrophies. While in vitro differentiating PSCs …
Transplantation of PSC-derived myogenic progenitors counteracts disease phenotypes in FSHD mice
Facioscapulohumeral muscular dystrophy (FSHD) is a genetically dominant progressive
myopathy caused by improper silencing of the DUX4 gene, leading to fibrosis, muscle …
myopathy caused by improper silencing of the DUX4 gene, leading to fibrosis, muscle …
Saturation mutagenesis-reinforced functional assays for disease-related genes
Interpretation of disease-causing genetic variants remains a challenge in human genetics.
Current costs and complexity of deep mutational scanning methods are obstacles for …
Current costs and complexity of deep mutational scanning methods are obstacles for …
BVES is a novel interactor of ANO5 and regulates myoblast differentiation
Abstract Background Anoctamin 5 (ANO5) is a membrane protein belonging to the
TMEM16/Anoctamin family and its deficiency leads to the development of limb girdle …
TMEM16/Anoctamin family and its deficiency leads to the development of limb girdle …
A Novel CRISPR-Cas9 Strategy to Target DYSTROPHIN Mutations Downstream of Exon 44 in Patient-Specific DMD iPSCs
Mutations in the DMD gene cause fatal Duchenne Muscular Dystrophy (DMD). An attractive
therapeutic approach is autologous cell transplantation utilizing myogenic progenitors …
therapeutic approach is autologous cell transplantation utilizing myogenic progenitors …
Defective autophagy and increased apoptosis contribute toward the pathogenesis of FKRP-associated muscular dystrophies
Fukutin-related protein (FKRP) is a glycosyltransferase involved in glycosylation of alpha-
dystroglycan (α-DG). Mutations in FKRP are associated with muscular dystrophies (MD) …
dystroglycan (α-DG). Mutations in FKRP are associated with muscular dystrophies (MD) …