Autophagy is increased in laminin α2 chain-deficient muscle and its inhibition improves muscle morphology in a mouse model of MDC1A
V Carmignac, M Svensson, Z Körner… - Human molecular …, 2011 - academic.oup.com
Congenital muscular dystrophy caused by laminin α2 chain deficiency (also known as
MDC1A) is a severe and incapacitating disease, characterized by massive muscle wasting …
MDC1A) is a severe and incapacitating disease, characterized by massive muscle wasting …
Proteasome inhibition improves the muscle of laminin α2 chain-deficient mice
V Carmignac, R Quéré, M Durbeej - Human molecular genetics, 2011 - academic.oup.com
Muscle atrophy, a significant characteristic of congenital muscular dystrophy with laminin α2
chain deficiency (also known as MDC1A), occurs by a change in the normal balance …
chain deficiency (also known as MDC1A), occurs by a change in the normal balance …
Transgenic overexpression of laminin α1 chain in laminin α2 chain–deficient mice rescues the disease throughout the lifespan
KI Gawlik, M Durbeej - Muscle & nerve, 2010 - Wiley Online Library
Several approaches to treat laminin α2 chain–deficient congenital muscular dystrophy
(MDC1A) in mouse models have been undertaken. Most have shown promising results in …
(MDC1A) in mouse models have been undertaken. Most have shown promising results in …
Quantitative proteomic analysis reveals metabolic alterations, calcium dysregulation, and increased expression of extracellular matrix proteins in laminin α2 chain …
BM de Oliveira, CY Matsumura… - Molecular & Cellular …, 2014 - ASBMB
Congenital muscular dystrophy with laminin α2 chain deficiency (MDC1A) is one of the most
severe forms of muscular disease and is characterized by severe muscle weakness and …
severe forms of muscular disease and is characterized by severe muscle weakness and …
Laminin-α2 chain-deficient congenital muscular dystrophy: pathophysiology and development of treatment
M Durbeej - Current topics in membranes, 2015 - Elsevier
Laminin-211 is a major constituent of the skeletal muscle basement membrane. It stabilizes
skeletal muscle and influences signal transduction events from the myomatrix to the muscle …
skeletal muscle and influences signal transduction events from the myomatrix to the muscle …
Muscle-specific expression of insulin-like growth factor 1 improves outcome in Lama2 Dy-w mice, a model for congenital muscular …
A Kumar, J Yamauchi, T Girgenrath… - Human molecular …, 2011 - academic.oup.com
MDC1A, the second most prevalent form of congenital muscular dystrophy, results from
laminin-α2 chain deficiency. This disease is characterized by extensive muscle wasting that …
laminin-α2 chain deficiency. This disease is characterized by extensive muscle wasting that …
Inhibition of apoptosis improves outcome in a model of congenital muscular dystrophy
M Girgenrath, JA Dominov, CA Kostek… - The Journal of clinical …, 2004 - Am Soc Clin Investig
The most common form of human congenital muscular dystrophy (CMD) is caused by
mutations in the laminin-α2 gene. Loss of laminin-α2 function in this autosomal recessive …
mutations in the laminin-α2 gene. Loss of laminin-α2 function in this autosomal recessive …
Misregulation of autophagy and protein degradation systems in myopathies and muscular dystrophies
M Sandri, L Coletto, P Grumati… - Journal of cell …, 2013 - journals.biologists.com
A number of recent studies have highlighted the importance of autophagy and the ubiquitin-
proteasome in the pathogenesis of muscle wasting in different types of inherited muscle …
proteasome in the pathogenesis of muscle wasting in different types of inherited muscle …
Laminin α1 chain improves laminin α2 chain deficient peripheral neuropathy
KI Gawlik, JY Li, Å Petersén… - Human molecular …, 2006 - academic.oup.com
Absence of laminin α2 chain leads to a severe form of congenital muscular dystrophy
(MDC1A) associated with peripheral neuropathy. Hence, future therapies should be aimed …
(MDC1A) associated with peripheral neuropathy. Hence, future therapies should be aimed …
Laminin-111 improves muscle repair in a mouse model of merosin-deficient congenital muscular dystrophy
PM Van Ry, P Minogue, BL Hodges… - Human molecular …, 2014 - academic.oup.com
Merosin-deficient congenital muscular dystrophy type 1A (MDC1A) is a severe and fatal
muscle-wasting disease with no cure. MDC1A patients and the dyW−/− mouse model exhibit …
muscle-wasting disease with no cure. MDC1A patients and the dyW−/− mouse model exhibit …