Dystrophin Dp71 and the neuropathophysiology of Duchenne muscular dystrophy

M Naidoo, K Anthony - Molecular Neurobiology, 2020 - Springer
Duchenne muscular dystrophy (DMD) is caused by frameshift mutations in the DMD gene
that prevent the body-wide translation of its protein product, dystrophin. Besides a severe …

Clinical trials using antisense oligonucleotides in duchenne muscular dystrophy

T Koo, MJ Wood - Human gene therapy, 2013 - liebertpub.com
Duchenne muscular dystrophy (DMD) is a severe muscle wasting disorder caused by
mutations in the DMD gene, affecting 1 in 3500 newborn males. Complete loss of muscle …

Dystrophin Dp71: the smallest but multifunctional product of the Duchenne muscular dystrophy gene

R Tadayoni, A Rendon, LE Soria-Jasso… - Molecular …, 2012 - Springer
Dystrophin Dp71 is expressed in all tissues, with the exception of skeletal muscle, and is the
main Duchenne muscular dystrophy (DMD) gene product in brain. As full-length dystrophin …

Dystroglycan versatility in cell adhesion: a tale of multiple motifs

CJ Moore, SJ Winder - Cell communication and signaling, 2010 - Springer
Dystroglycan is a ubiquitously expressed heterodimeric adhesion receptor. The extracellular
α-subunit makes connections with a number of laminin G domain ligands including laminins …

The role of dystrophin isoforms and interactors in the brain

K Tetorou, A Aghaeipour, S Singh, JE Morgan… - Brain, 2024 - academic.oup.com
Dystrophin is a protein crucial for maintaining the structural integrity of skeletal muscle. So
far, the attention was focused on the role of dystrophin in muscle in view of the devastating …

ZO-2 silencing induces renal hypertrophy through a cell cycle mechanism and the activation of YAP and the mTOR pathway

A Domínguez-Calderón, A Ávila-Flores… - Molecular biology of …, 2016 - Am Soc Cell Biol
Renal compensatory hypertrophy (RCH) restores normal kidney function after disease or
loss of kidney tissue and is characterized by an increase in organ size due to cell …

A review of actin binding proteins: new perspectives

R Uribe, D Jay - Molecular biology reports, 2009 - Springer
Actin binding proteins (ABPs) have been considered components of the cytoskeleton, which
gives structure and allows mobility of the cell. The complex dynamic properties of the actin …

Association between neurodevelopmental impairments and motor function in Duchenne muscular dystrophy

M Thangarajh, MP McDermott… - Annals of Clinical …, 2023 - Wiley Online Library
Objective We explored various prognostic factors of motor outcomes in corticosteroid‐naive
boys with Duchenne Muscular Dystrophy (DMD). Methods The associations between parent …

Nonmechanical roles of dystrophin and associated proteins in exercise, neuromuscular junctions, and brains

B Nichols, S Takeda, T Yokota - Brain sciences, 2015 - mdpi.com
Dystrophin-glycoprotein complex (DGC) is an important structural unit in skeletal muscle that
connects the cytoskeleton (f-actin) of a muscle fiber to the extracellular matrix (ECM) …

Functional diversity of dystroglycan

M Bozzi, S Morlacchi, MG Bigotti, F Sciandra… - Matrix Biology, 2009 - Elsevier
During the last 15 years, following its identification and first detailed molecular
characterization, the dystroglycan (DG) complex has taken centre stage in biology and …