Muscular dystrophies
E Mercuri, CG Bönnemann, F Muntoni - The Lancet, 2019 - thelancet.com
Muscular dystrophies are primary diseases of muscle due to mutations in more than 40
genes, which result in dystrophic changes on muscle biopsy. Now that most of the genes …
genes, which result in dystrophic changes on muscle biopsy. Now that most of the genes …
[HTML][HTML] Extracellular matrix: Brick and mortar in the skeletal muscle stem cell niche
SC Schüler, Y Liu, S Dumontier… - Frontiers in Cell and …, 2022 - frontiersin.org
The extracellular matrix (ECM) is an interconnected macromolecular scaffold occupying the
space between cells. Amongst other functions, the ECM provides structural support to …
space between cells. Amongst other functions, the ECM provides structural support to …
Efficient myotube formation in 3D bioprinted tissue construct by biochemical and topographical cues
Biochemical and biophysical cues directly affect cell morphology, adhesion, proliferation,
and phenotype, as well as differentiation; thus, they have been commonly utilized for …
and phenotype, as well as differentiation; thus, they have been commonly utilized for …
[HTML][HTML] Mex3a interacts with LAMA2 to promote lung adenocarcinoma metastasis via PI3K/AKT pathway
J Liang, H Li, J Han, J Jiang, J Wang, Y Li, Z Feng… - Cell Death & …, 2020 - nature.com
Lung adenocarcinoma (LUAD) is the main subtype of lung cancer. In this study, we found
that RBP Mex3a was significantly upregulated in LUAD tissues and elevated Mex3a …
that RBP Mex3a was significantly upregulated in LUAD tissues and elevated Mex3a …
A mutation-independent approach for muscular dystrophy via upregulation of a modifier gene
DU Kemaladewi, PS Bassi, S Erwood, D Al-Basha… - Nature, 2019 - nature.com
Neuromuscular disorders are often caused by heterogeneous mutations in large, structurally
complex genes. Targeting compensatory modifier genes could be beneficial to improve …
complex genes. Targeting compensatory modifier genes could be beneficial to improve …
[HTML][HTML] LAMA2-related dystrophies: clinical phenotypes, disease biomarkers, and clinical trial readiness
A Sarkozy, AR Foley, AA Zambon… - Frontiers in Molecular …, 2020 - frontiersin.org
Mutations in the LAMA2 gene affect the production of the α2 subunit of laminin-211 (=
merosin) and result in either partial or complete laminin-211 deficiency. Complete merosin …
merosin) and result in either partial or complete laminin-211 deficiency. Complete merosin …
Treating pediatric neuromuscular disorders: the future is now
JJ Dowling, H D. Gonorazky, RD Cohn… - American Journal of …, 2018 - Wiley Online Library
Pediatric neuromuscular diseases encompass all disorders with onset in childhood and
where the primary area of pathology is in the peripheral nervous system. These conditions …
where the primary area of pathology is in the peripheral nervous system. These conditions …
Skeletal muscle in health and disease
J Morgan, T Partridge - Disease models & mechanisms, 2020 - journals.biologists.com
Skeletal muscle fibres are multinucleated cells that contain postmitotic nuclei (ie they are no
longer able to divide) and perform muscle contraction. They are formed by fusion of muscle …
longer able to divide) and perform muscle contraction. They are formed by fusion of muscle …
Alport syndrome and Pierson syndrome: diseases of the glomerular basement membrane
SD Funk, MH Lin, JH Miner - Matrix Biology, 2018 - Elsevier
The glomerular basement membrane (GBM) is an important component of the kidney's
glomerular filtration barrier. Like all basement membranes, the GBM contains type IV …
glomerular filtration barrier. Like all basement membranes, the GBM contains type IV …
[HTML][HTML] Molecular and phenotypic analysis of rodent models reveals conserved and species-specific modulators of human sarcopenia
Sarcopenia, the age-related loss of skeletal muscle mass and function, affects 5–13% of
individuals aged over 60 years. While rodents are widely-used model organisms, which …
individuals aged over 60 years. While rodents are widely-used model organisms, which …