Mouse models for muscular dystrophies: an overview

M van Putten, EM Lloyd, JC de Greef… - Disease models & …, 2020 - journals.biologists.com
Muscular dystrophies (MDs) encompass a wide variety of inherited disorders that are
characterized by loss of muscle tissue associated with a progressive reduction in muscle …

[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] Antioxidants Reduce Muscular Dystrophy in the dy2J/dy2J Mouse Model of Laminin α2 Chain-Deficient Muscular Dystrophy

VM Harandi, B Moreira Soares Oliveira, V Allamand… - Antioxidants, 2020 - mdpi.com
Congenital muscular dystrophy with laminin α2 chain-deficiency (LAMA2-CMD) is a severe
neuromuscular disorder without a cure. Using transcriptome and proteome profiling as well …

[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 …

Lama1 upregulation prolongs the lifespan of the dyH/dyH mouse model of LAMA2-related congenital muscular dystrophy

Y Liu, D Tan, K Ma, H Luo, J Mao, J Luo, Q Shen… - Journal of Genetics and …, 2024 - Elsevier
LAMA2-related congenital muscular dystrophy (LAMA2-CMD), characterized by laminin-α2
deficiency, is debilitating and ultimately fatal. To date, no effective therapy has been …

[HTML][HTML] Effects of metformin on congenital muscular dystrophy type 1A disease progression in mice: a gender impact study

CC Fontes-Oliveira, B M. Soares Oliveira, Z Körner… - Scientific reports, 2018 - nature.com
Congenital muscular dystrophy with laminin α2 chain-deficiency (LAMA2-CMD) is a severe
muscle disorder with complex underlying pathogenesis. We have previously employed …

Function and biomechanics of dysferlin-deficient skeletal muscle

E Lloyd - 2023 - research-repository.uwa.edu.au
Dysferlinopathies are a group of muscular dystrophies caused by genetic deficiency of the
protein dysferlin. Manifesting post-growth, the disease is characterised by progressive …

[HTML][HTML] A mutation-independent approach via transcriptional upregulation of a disease modifier gene rescues muscular dystrophy in vivo

DU Kemaladewi, PS Bassi, K Lindsay, S Erwood… - bioRxiv, 2018 - biorxiv.org
Introductory paragraph Identification of protective and/or pathogenic genetic modifiers
provides important insight into the heterogeneity of disease presentations in individuals …

[HTML][HTML] Desenvolupament de noves estratègies terapèutiques per les distròfies musculars

P Romero Duque - 2022 - ddd.uab.cat
La Distròfia Muscular de Duchenne és una malaltia devastadors y progressiva que
actualment no disposa de cap tractament curatiu i només es poden oferir teràpies pal …

Understanding the mechanisms at the onset of LAMA2-congenital muscular dystrophy

CSP Cavaco - 2023 - repositorio.ul.pt
LAMA2-congenital muscular dystrophy (LAMA2-CMD) is characterized by muscle weakness
and hypotonia present at birth and, currently, no treatment or cure are available. LAMA2 …