Animal models of Duchenne muscular dystrophy: from basic mechanisms to gene therapy

JW McGreevy, CH Hakim… - Disease models & …, 2015 - journals.biologists.com
Duchenne muscular dystrophy (DMD) is a progressive muscle-wasting disorder. It is caused
by loss-of-function mutations in the dystrophin gene. Currently, there is no cure. A highly …

[HTML][HTML] Dysregulation of calcium handling in duchenne muscular dystrophy-associated dilated cardiomyopathy: mechanisms and experimental therapeutic strategies

ML Law, H Cohen, AA Martin, ABB Angulski… - Journal of clinical …, 2020 - mdpi.com
Duchenne muscular dystrophy (DMD) is an X-linked recessive disease resulting in the loss
of dystrophin, a key cytoskeletal protein in the dystrophin-glycoprotein complex. Dystrophin …

Contemporary cardiac issues in Duchenne muscular dystrophy

EM McNally, JR Kaltman, DW Benson, CE Canter… - Circulation, 2015 - Am Heart Assoc
Muscular Dystrophy, convened a Working Group meeting on July 2014, in Bethesda, MD, to
explore clinical and research questions related to cardiac disease in patients with DMD. As …

Cardiovascular disease in Duchenne muscular dystrophy: overview and insight into novel therapeutic targets

TI Schultz, FJ Raucci Jr, FN Salloum - Basic to Translational Science, 2022 - jacc.org
Duchenne muscular dystrophy (DMD) is a devastating disease affecting approximately 1 in
every 3,500 male births worldwide. Multiple mutations in the dystrophin gene have been …

Sarcoglycanopathies: molecular pathogenesis and therapeutic prospects

D Sandona, R Betto - Expert reviews in molecular medicine, 2009 - cambridge.org
Sarcoglycanopathies are a group of autosomal recessive muscle-wasting disorders caused
by genetic defects in one of four cell membrane glycoproteins, α-, β-, γ-or δ-sarcoglycan …

Nitrosative stress elicited by nNOSµ delocalization inhibits muscle force in dystrophin‐null mice

D Li, Y Yue, Y Lai, CH Hakim… - The Journal of pathology, 2011 - Wiley Online Library
The mechanism of force reduction is not completely understood in Duchenne muscular
dystrophy (DMD), a dystrophin‐deficient lethal disease. Nitric oxide regulates muscle force …

[HTML][HTML] AAV-microdystrophin therapy improves cardiac performance in aged female mdx mice

B Bostick, JH Shin, Y Yue, D Duan - Molecular Therapy, 2011 - cell.com
Dystrophin deficiency leads to lethal dilated Duchenne cardiomyopathy. A promising
therapy is to deliver a highly abbreviated microdystrophin gene to the heart using adeno …

Sarcolemmal nNOS anchoring reveals a qualitative difference between dystrophin and utrophin

D Li, A Bareja, L Judge, Y Yue, Y Lai… - Journal of cell …, 2010 - journals.biologists.com
Duchenne muscular dystrophy (DMD) is a lethal muscle disease caused by dystrophin
deficiency. In normal muscle, dystrophin helps maintain sarcolemmal stability. Dystrophin …

[HTML][HTML] An intronic LINE-1 element insertion in the dystrophin gene aborts dystrophin expression and results in Duchenne-like muscular dystrophy in the corgi breed

BF Smith, Y Yue, PR Woods, JN Kornegay… - Laboratory …, 2011 - Elsevier
Duchenne muscular dystrophy (DMD) is a dystrophin-deficient lethal muscle disease. To
date, the catastrophic muscle wasting phenotype has only been seen in dystrophin-deficient …

[HTML][HTML] Single SERCA2a therapy ameliorated dilated cardiomyopathy for 18 months in a mouse model of Duchenne muscular dystrophy

NB Wasala, Y Yue, W Lostal, LP Wasala, N Niranjan… - Molecular therapy, 2020 - cell.com
Loss of dystrophin leads to Duchenne muscular dystrophy (DMD). A pathogenic feature of
DMD is the significant elevation of cytosolic calcium. Supraphysiological calcium triggers …