At the crossroads of clinical and preclinical research for muscular dystrophy—are we closer to effective treatment for patients?

KI Gawlik - International journal of molecular sciences, 2018 - mdpi.com
Among diseases affecting skeletal muscle, muscular dystrophy is one of the most
devastating and complex disorders. The term 'muscular dystrophy'refers to a heterogeneous …

Biomimetic strategies for the deputization of proteoglycan functions

IF Rehan, A Elnagar, F Zigo… - Frontiers in Cell and …, 2024 - frontiersin.org
Proteoglycans (PGs), which have glycosaminoglycan chains attached to their protein cores,
are essential for maintaining the morphology and function of healthy body tissues …

Comparative genomics of X-linked muscular dystrophies: the golden retriever model

C Brinkmeyer-Langford, JN Kornegay - Current genomics, 2013 - ingentaconnect.com
Duchenne muscular dystrophy (DMD) is a devastating disease that dramatically decreases
the lifespan and abilities of affected young people. The primary molecular cause of the …

Converging pathways involving microRNA-206 and the RNA-binding protein KSRP control post-transcriptionally utrophin A expression in skeletal muscle

A Amirouche, H Tadesse, P Miura… - Nucleic acids …, 2014 - academic.oup.com
Several reports have previously highlighted the potential role of miR-206 in the post-
transcriptional downregulation of utrophin A in cultured cells. Along those lines, we recently …

Pharmacologically targeting the primary defect and downstream pathology in Duchenne muscular dystrophy

RJ Fairclough, KJ Perkins, KE Davies - Current gene therapy, 2012 - ingentaconnect.com
DMD is a devastatingly progressive muscle wasting disorder of childhood that significantly
shortens life expectancy. Despite efforts to develop an effective therapy that dates back over …

PDE10A inhibition reduces the manifestation of pathology in DMD zebrafish and represses the genetic modifier PITPNA

MR Lambert, JM Spinazzola, JJ Widrick, A Pakula… - Molecular Therapy, 2021 - cell.com
Duchenne muscular dystrophy (DMD) is a severe genetic disorder caused by mutations in
the DMD gene. Absence of dystrophin protein leads to progressive degradation of skeletal …

Protein-Anchoring Therapy of Biglycan for Mdx Mouse Model of Duchenne Muscular Dystrophy

M Ito, Y Ehara, J Li, K Inada, K Ohno - Human gene therapy, 2017 - liebertpub.com
Duchenne muscular dystrophy (DMD) is a devastating muscle disease caused by loss-of-
function mutations in DMD encoding dystrophin. No rational therapy is currently available …

[PDF][PDF] ECM-related myopathies and muscular dystrophies: pros and cons of protein therapies

PM Van Ry, TM Fontelonga, P Barraza-Flores… - Compr …, 2017 - researchgate.net
Extracellular matrix (ECM) myopathies and muscular dystrophies are a group of genetic
diseases caused by mutations in genes encoding proteins that provide critical links between …

Gene expression profiling identifies molecular pathways associated with collagen VI deficiency and provides novel therapeutic targets

S Paco, SG Kalko, C Jou, MA Rodríguez, J Corbera… - PLoS …, 2013 - journals.plos.org
Ullrich congenital muscular dystrophy (UCMD), caused by collagen VI deficiency, is a
common congenital muscular dystrophy. At present, the role of collagen VI in muscle and the …

Dystrophic cardiomyopathy—potential role of calcium in pathogenesis, treatment and novel therapies

VPA Johnstone, HM Viola, LC Hool - Genes, 2017 - mdpi.com
Duchenne muscular dystrophy (DMD) is caused by defects in the DMD gene and results in
progressive wasting of skeletal and cardiac muscle due to an absence of functional …