[HTML][HTML] The Dystrophin Complex: structure, function and implications for therapy

Q Gao, EM McNally - Comprehensive physiology, 2015 - ncbi.nlm.nih.gov
The dystrophin complex stabilizes the plasma membrane of striated muscle cells. Loss of
function mutations in the genes encoding dystrophin, or the associated proteins, triggers …

Vertebrate protein glycosylation: diversity, synthesis and function

KW Moremen, M Tiemeyer, AV Nairn - Nature reviews Molecular cell …, 2012 - nature.com
Protein glycosylation is a ubiquitous post-translational modification found in all domains of
life. Despite their significant complexity in animal systems, glycan structures have crucial …

[HTML][HTML] Mechanisms regulating neuromuscular junction development and function and causes of muscle wasting

LA Tintignac, HR Brenner… - Physiological …, 2015 - journals.physiology.org
The neuromuscular junction is the chemical synapse between motor neurons and skeletal
muscle fibers. It is designed to reliably convert the action potential from the presynaptic …

Assemblathon 2: evaluating de novo methods of genome assembly in three vertebrate species

KR Bradnam, JN Fass, A Alexandrov, P Baranay… - …, 2013 - academic.oup.com
Background The process of generating raw genome sequence data continues to become
cheaper, faster, and more accurate. However, assembly of such data into high-quality …

[HTML][HTML] Diagnostic approach to the congenital muscular dystrophies

CG Bönnemann, CH Wang, S Quijano-Roy… - Neuromuscular …, 2014 - Elsevier
Congenital muscular dystrophies (CMDs) are early onset disorders of muscle with
histological features suggesting a dystrophic process. The congenital muscular dystrophies …

[HTML][HTML] Genetic basis of limb-girdle muscular dystrophies: the 2014 update

V Nigro, M Savarese - Acta Myologica, 2014 - ncbi.nlm.nih.gov
Limb-girdle muscular dystrophies (LGMD) are a highly heterogeneous group of muscle
disorders, which first affect the voluntary muscles of the hip and shoulder areas. The …

Identification of a post-translational modification with ribitol-phosphate and its defect in muscular dystrophy

M Kanagawa, K Kobayashi, M Tajiri, H Manya, A Kuga… - Cell reports, 2016 - cell.com
Glycosylation is an essential post-translational modification that underlies many biological
processes and diseases. α-dystroglycan (α-DG) is a receptor for matrix and synaptic proteins …

Cellular and molecular mechanisms underlying muscular dystrophy

F Rahimov, LM Kunkel - Journal of Cell Biology, 2013 - rupress.org
The muscular dystrophies are a group of heterogeneous genetic diseases characterized by
progressive degeneration and weakness of skeletal muscle. Since the discovery of the first …

The role of the dystrophin glycoprotein complex in muscle cell mechanotransduction

DGS Wilson, A Tinker, T Iskratsch - Communications Biology, 2022 - nature.com
Dystrophin is the central protein of the dystrophin-glycoprotein complex (DGC) in skeletal
and heart muscle cells. Dystrophin connects the actin cytoskeleton to the extracellular matrix …

Matriglycan: a novel polysaccharide that links dystroglycan to the basement membrane

T Yoshida-Moriguchi, KP Campbell - Glycobiology, 2015 - academic.oup.com
Associations between cells and the basement membrane are critical for a variety of
biological events including cell proliferation, cell migration, cell differentiation and the …