Current understanding and treatment of cardiac and skeletal muscle pathology in laminin-α2 chain-deficient congenital muscular dystrophy

Q Nguyen, KRQ Lim, T Yokota - The application of clinical genetics, 2019 - Taylor & Francis
Congenital muscular dystrophy (CMD) is a class of severe early-onset muscular dystrophies
affecting skeletal/cardiac muscles as well as the central nervous system (CNS). Laminin-α2 …

[HTML][HTML] Fibrogenesis in LAMA2-Related Muscular Dystrophy Is a Central Tenet of Disease Etiology

A Accorsi, ML Cramer, M Girgenrath - Frontiers in molecular …, 2020 - frontiersin.org
LAMA2-related congenital muscular dystrophy, also known as MDC1A, is caused by loss-of-
function mutations in the alpha2 chain of Laminin-211. Loss of this protein interrupts the …

Spp1 (osteopontin) promotes TGFβ processing in fibroblasts of dystrophin-deficient muscles through matrix metalloproteinases

I Kramerova, C Kumagai-Cresse… - Human molecular …, 2019 - academic.oup.com
Duchenne muscular dystrophy (DMD) is caused by mutations in the gene encoding
dystrophin. Prior work has shown that DMD progression can vary, depending on the genetic …

[HTML][HTML] Amelioration of muscle and nerve pathology of Lama2-related dystrophy by AAV9-laminin-αLN linker protein

KK McKee, PD Yurchenco - JCI insight, 2022 - ncbi.nlm.nih.gov
LAMA2 deficiency, resulting from a defective or absent laminin α2 subunit, is a common
cause of congenital muscular dystrophy. It is characterized by muscle weakness from …

[HTML][HTML] Tissue-enhanced plasma proteomic analysis for disease stratification in amyotrophic lateral sclerosis

I Zubiri, V Lombardi, M Bremang, V Mitra… - Molecular …, 2018 - Springer
Background It is unclear to what extent pre-clinical studies in genetically homogeneous
animal models of amyotrophic lateral sclerosis (ALS), an invariably fatal neurodegenerative …

[HTML][HTML] A family of laminin α2 chain-deficient mouse mutants: advancing the research on LAMA2-CMD

KI Gawlik, M Durbeej - Frontiers in Molecular Neuroscience, 2020 - frontiersin.org
The research on laminin α2 chain-deficient congenital muscular dystrophy (LAMA2-CMD)
advanced rapidly in the last few decades, largely due to availability of good mouse models …

[HTML][HTML] Oxidative stress, inflammation and connexin hemichannels in muscular dystrophies

A González-Jamett, W Vásquez, G Cifuentes-Riveros… - Biomedicines, 2022 - mdpi.com
Muscular dystrophies (MDs) are a heterogeneous group of congenital neuromuscular
disorders whose clinical signs include myalgia, skeletal muscle weakness, hypotonia, and …

Increased plasma osteopontin levels are associated with nonalcoholic fatty liver disease in patients with type 2 diabetes mellitus

C Wang, M He, J Peng, S Li, M Long, W Chen, D Liu… - Cytokine, 2020 - Elsevier
Nonalcoholic fatty liver disease (NAFLD) commonly occurs in patients with type 2 diabetes
mellitus (T2DM). Osteopontin (OPN) is a multifunctional protein with pleiotropic physiological …

[HTML][HTML] Gal-3BP in viral infections: An emerging role in severe acute respiratory syndrome coronavirus 2

V Gallo, A Arienzo, S Iacobelli, V Iacobelli… - International Journal of …, 2022 - mdpi.com
Galectin-3 binding protein (Gal-3BP) is a multifunctional glycoprotein involved in cell–cell
and cell–matrix interactions known to be upregulated in cancer and various viral infections …

[HTML][HTML] Early skeletal muscle pathology and disease progress in the dy3K/dy3K mouse model of congenital muscular dystrophy with laminin α2 chain-deficiency

KI Gawlik, Z Körner, BM Oliveira, M Durbeej - Scientific Reports, 2019 - nature.com
Deficiency of laminin α2 chain leads to a severe form of congenital muscular dystrophy
(LAMA2-CMD), and dystrophic symptoms progress rapidly in early childhood. Currently …