Results 51 to 60 of about 28,350 (246)

Review: Dystroglycan in the Nervous System

, 2007
Dystroglycan is part of a large complex of proteins, the dystrophin-glycoprotein complex, which has been implicated in the pathogenesis of muscular dystrophies for a long time.
Matthias Samwald
core   +1 more source

Fhod3 in zebrafish supports myofibril stability during growth of embryonic skeletal muscle

Developmental Dynamics, EarlyView.
Abstract Background Actin filament organization in cardiomyocytes critically depends on the formin Fhod3, but a role for Fhod3 in skeletal muscle development has not yet been described. Results We demonstrate here that in zebrafish mutated for one of two fhod3 paralog genes, fhod3a, skeletal muscle of the trunk appears normal through 2 days post ...
Aubrie Russell, Tracy Eng, Jeffrey D. Amack, David Pruyne   +3 more
wiley   +1 more source

A novel high-throughput immunofluorescence analysis method for quantifying dystrophin intensity in entire transverse sections of Duchenne muscular dystrophy muscle biopsy samples. [PDF]

PLoS ONE, 2018
Clinical trials using strategies aimed at inducing dystrophin expression in Duchenne muscular dystrophy (DMD) are underway or at advanced planning stage, including splice switching antisense oligonucleotides (AON), drugs to induce read-through of ...
Valentina Sardone, Matthew Ellis, Silvia Torelli, Lucy Feng, Darren Chambers, Deborah Eastwood, Caroline Sewry, Rahul Phadke, Jennifer E Morgan, Francesco Muntoni   +9 more
doaj   +1 more source

CardiLect: A combined cross‐species lectin histochemistry protocol for the automated analysis of cardiac remodelling

ESC Heart Failure, Volume 12, Issue 2, Page 1398-1415, April 2025.
Abstract Background Cardiac remodelling, a crucial aspect of heart failure, is commonly investigated in preclinical models by quantifying cardiomyocyte cross‐sectional area (CSA) and microvascular density (MVD) via histological methods, such as immunohistochemistry.
Tamás G. Gergely, Tamás Kovács, Andrea Kovács, Viktória E. Tóth, Nabil V. Sayour, Gábor M. Mórotz, Csenger Kovácsházi, Gábor B. Brenner, Zsófia Onódi, Balázs Enyedi, Domokos Máthé, Przemyslaw Leszek, Zoltán Giricz, Péter Ferdinandy, Zoltán V. Varga   +14 more
wiley   +1 more source

Spatiotemporal analysis of dystrophin expression during muscle repair

Skeletal Muscle
Background Dystrophin mRNA is produced from a very large genetic locus and transcription of a single mRNA requires approximately 16 h. This prolonged interval between initiation and completion results in unusual transcriptional behaviour: in skeletal ...
John C.W. Hildyard, Liberty E. Roskrow, Dominic J. Wells, Richard J. Piercy   +3 more
doaj   +1 more source

Assessment of the structural and functional impact of in-frame mutations of the DMD gene, using the tools included in the eDystrophin online database

Orphanet Journal of Rare Diseases, 2012
Background Dystrophin is a large essential protein of skeletal and heart muscle. It is a filamentous scaffolding protein with numerous binding domains. Mutations in the DMD gene, which encodes dystrophin, mostly result in the deletion of one or several ...
Nicolas Aurélie, Lucchetti-Miganeh Céline, Yaou Rabah, Kaplan Jean-Claude, Chelly Jamel, Leturcq France, Barloy-Hubler Frédérique, Le Rumeur Elisabeth   +7 more
doaj   +1 more source

Dystrophin involvement in peripheral circadian SRF signalling

Life Science Alliance, 2021
Absence of integral sarcolemmal protein, dystrophin, disrupts the RhoA-actin-SRF cascade in skeletal muscle, with subsequent dysregulation of downstream-SRF circadian targets and circadian rhythm.
Corinne A Betts, Aarti Jagannath, Tirsa LE van Westering, Melissa Bowerman, Subhashis Banerjee, Jinhong Meng, Maria Sofia Falzarano, Lara Cravo, Graham McClorey, Katharina E Meijboom, Amarjit Bhomra, Wooi Fang Lim, Carlo Rinaldi, John R Counsell, Katarzyna Chwalenia, Elizabeth O’Donovan, Amer F Saleh, Michael J Gait, Jennifer E Morgan, Alessandra Ferlini, Russell G Foster, Matthew JA Wood   +21 more
doaj   +1 more source

Epilepsy characteristics in patients with muscle‐eye‐brain disease: A systematic review of electroclinical features

Epileptic Disorders, EarlyView.
Abstract Background and Objectives Muscle‐Eye‐Brain disease (MEB) is a dystroglycanopathy that belongs to the congenital muscular dystrophies. Central nervous system manifestations include congenital brain abnormalities, neurodevelopmental delay, and epilepsy, making it a rare but important cause of developmental and epileptic encephalopathy.
Stefania Kalampokini, Evripidis Pityrigkas, Eleni Liouta, Georgia Pepe, Vasiliki Poulidou, Martha Spilioti, Vasilios K. Kimiskidis   +6 more
wiley   +1 more source

Five‐Year Outcomes With Delandistrogene Moxeparvovec in Patients With Duchenne Muscular Dystrophy: A Phase 1/2a Study

Muscle &Nerve, EarlyView.
ABSTRACT Aims We report 5‐year results from a phase 1/2a study of delandistrogene moxeparvovec, a recombinant adeno‐associated virus serotype rh74 vector‐based gene therapy for Duchenne muscular dystrophy (DMD), with post hoc analyses contextualizing functional outcomes. Methods Four ambulatory patients with DMD (≥ 4–< 8 years at enrollment) entered an
Jerry R. Mendell, Zarife Sahenk, Linda P. Lowes, Megan A. Iammarino, Lindsay N. Alfano, Craig M. McDonald, James E. Signorovitch, Jim Jin, Jing Li, Stefanie Mason, Louise R. Rodino‐Klapac   +10 more
wiley   +1 more source

In vivo behaviour of human precursors into a dystrophic context [PDF]

, 2013
The Duchenne Muscular Dystrophy (DMD) is a lethal recessive X-linked disease caused by mutations in the dystrophin gene, no effective treatment is available up to date.
Vallese, Denis
core