Dystroglycanopathies: clinical manifestations and genetics and molecular basis of the muscular dystrophies caused by defective glycosylation of α-dystroglycan
GV Aguilera, BC Vega - Investigación en Discapacidad, 2016 - medigraphic.com
In general, human muscular dystrophies are caused by mutations in genes encoding for key
proteins of the muscular tissue. A specific group of muscular dystrophies is related to …
proteins of the muscular tissue. A specific group of muscular dystrophies is related to …
[HTML][HTML] Dystroglycanopathies: Genetic bases of muscular dystrophies due to alteration in the O-Glycosylation of α-Dystroglycan
MA Cubilla, GM Papazoglu… - Journal of Inborn Errors of …, 2023 - SciELO Brasil
Congenital muscular dystrophies (CMDs) are inherited, progressive and heterogeneous
muscle disorders. A group of CMDs are dystroglycanopathies, also called α …
muscle disorders. A group of CMDs are dystroglycanopathies, also called α …
A molecular overview of the primary dystroglycanopathies
A Brancaccio - Journal of Cellular and Molecular Medicine, 2019 - Wiley Online Library
Dystroglycan is a major non‐integrin adhesion complex that connects the cytoskeleton to the
surrounding basement membranes, thus providing stability to skeletal muscle. In …
surrounding basement membranes, thus providing stability to skeletal muscle. In …
[HTML][HTML] Abnormal glycosylation of dystroglycan in human genetic disease
JE Hewitt - Biochimica et Biophysica Acta (BBA)-Molecular Basis …, 2009 - Elsevier
The dystroglycanopathies are a group of inherited muscular dystrophies that have a
common underlying mechanism, hypoglycosylation of the extracellular receptor α …
common underlying mechanism, hypoglycosylation of the extracellular receptor α …
Dystroglycanopathies: coming into focus
A common group of muscular dystrophies is associated with the aberrant glycosylation of α-
dystroglycan. These clinically heterogeneous disorders, collectively termed …
dystroglycan. These clinically heterogeneous disorders, collectively termed …
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 …
Dystroglycan: important player in skeletal muscle and beyond
RD Cohn - Neuromuscular Disorders, 2005 - Elsevier
Dystroglycan is a transmembrane protein that connects the extracellular matrix to the
cytoskeleton. Given the ubiquitous tissue expression of dystroglycan, different functional …
cytoskeleton. Given the ubiquitous tissue expression of dystroglycan, different functional …
α-Dystroglycan, the usual suspect?
A Brancaccio - Neuromuscular Disorders, 2005 - Elsevier
An increasing number of congenital muscular dystrophies might originate from genetic
abnormalities of glycosyltransferases genes which are believed to target the α subunit of the …
abnormalities of glycosyltransferases genes which are believed to target the α subunit of the …
Dystroglycanopathies: about numerous genes involved in glycosylation of one single glycoprotein
C Bouchet-Séraphin… - Journal of …, 2015 - content.iospress.com
Dystroglycanopathies are neuromuscular disorders due to abnormal glycosylation of
dystroglycan which is a cell-surface glycoprotein that acts as a receptor for extracellular …
dystroglycan which is a cell-surface glycoprotein that acts as a receptor for extracellular …
Mechanistic aspects of the formation of α-dystroglycan and therapeutic research for the treatment of α-dystroglycanopathy: A review
M Taniguchi-Ikeda, I Morioka, K Iijima, T Toda - Molecular aspects of …, 2016 - Elsevier
Abstract α-Dystroglycanopathy, an autosomal recessive disease, is associated with the
development of a variety of diseases, including muscular dystrophy. In humans, α …
development of a variety of diseases, including muscular dystrophy. In humans, α …
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