Results 11 to 20 of about 23,636 (243)

Proteomic analysis reveals new cardiac-specific dystrophin-associated proteins. [PDF]

PLoS ONE, 2012
Mutations affecting the expression of dystrophin result in progressive loss of skeletal muscle function and cardiomyopathy leading to early mortality.
Eric K Johnson, Liwen Zhang, Marvin E Adams, Alistair Phillips, Michael A Freitas, Stanley C Froehner, Kari B Green-Church, Federica Montanaro   +7 more
doaj   +1 more source

Current updates of CRISPR/Cas9‐mediated genome editing and targeting within tumor cells: an innovative strategy of cancer management

Cancer Communications, Volume 42, Issue 12, Page 1257-1287, December 2022., 2022
Abstract Clustered regularly interspaced short palindromic repeats‐associated protein (CRISPR/Cas9), an adaptive microbial immune system, has been exploited as a robust, accurate, efficient and programmable method for genome targeting and editing. This innovative and revolutionary technique can play a significant role in animal modeling, in vivo genome
Khaled S. Allemailem, Mohammed A Alsahli, Ahmad Almatroudi, Faris Alrumaihi, Fahd Khaleefah Alkhaleefah, Arshad Husain Rahmani, Amjad Ali Khan   +6 more
wiley   +1 more source

Novel Nuclear Protein Complexes of Dystrophin 71 Isoforms in Rat Cultured Hippocampal GABAergic and Glutamatergic Neurons. [PDF]

PLoS ONE, 2015
The precise functional role of the dystrophin 71 in neurons is still elusive. Previously, we reported that dystrophin 71d and dystrophin 71f are present in nuclei from cultured neurons.
Rafael Rodríguez-Muñoz, María Del Carmen Cárdenas-Aguayo, Víctor Alemán, Beatriz Osorio, Oscar Chávez-González, Alvaro Rendon, Dalila Martínez-Rojas, Marco Antonio Meraz-Ríos   +7 more
doaj   +1 more source

Identification of Biallelic dystrophin gene variants during maternal carrier testing for Becker muscular dystrophy and review of the DMD exon 49–51 deletion phenotype

Molecular Genetics &Genomic Medicine, Volume 11, Issue 1, January 2023., 2023
This manuscript summarizes a case of biallelic dystrophin (DMD) variants in a mildly affected female patient and additionally highlights the phenotypic spectrum of one of the patient's two DMD variants, a deletion of exons 49–51. This deletion previously had few reports in the published literature, despite its frequency within our institution's ...
Elizabeth A. Ulm, Chinmayee B. Nagaraj, Cuixia Tian, Teresa A. Smolarek   +3 more
wiley   +1 more source

Role of dystrophin in airway smooth muscle phenotype, contraction and lung function. [PDF]

PLoS ONE, 2014
Dystrophin links the transmembrane dystrophin-glycoprotein complex to the actin cytoskeleton. We have shown that dystrophin-glycoprotein complex subunits are markers for airway smooth muscle phenotype maturation and together with caveolin-1, play an ...
Pawan Sharma, Sujata Basu, Richard W Mitchell, Gerald L Stelmack, Judy E Anderson, Andrew J Halayko   +5 more
doaj   +1 more source

Proteomic profiling of impaired excitation–contraction coupling and abnormal calcium handling in muscular dystrophy

PROTEOMICS, Volume 22, Issue 23-24, December 2022., 2022
Abstract The X‐linked inherited neuromuscular disorder Duchenne muscular dystrophy is characterised by primary abnormalities in the membrane cytoskeletal component dystrophin. The almost complete absence of the Dp427‐M isoform of dystrophin in skeletal muscles renders contractile fibres more susceptible to progressive degeneration and a leaky ...
Paul Dowling, Stephen Gargan, Dieter Swandulla, Kay Ohlendieck   +3 more
wiley   +1 more source

Function and Genetics of Dystrophin and Dystrophin-Related Proteins in Muscle [PDF]

Physiological Reviews, 2002
The X-linked muscle-wasting disease Duchenne muscular dystrophy is caused by mutations in the gene encoding dystrophin. There is currently no effective treatment for the disease; however, the complex molecular pathology of this disorder is now being unravelled.
Blake, D, Weir, A, Newey, S, Davies, K
openaire   +3 more sources

Uniform sarcolemmal dystrophin expression is required to prevent extracellular microRNA release and improve dystrophic pathology

Journal of Cachexia, Sarcopenia and Muscle, 2020
Background Duchenne muscular dystrophy (DMD) is a fatal muscle‐wasting disorder caused by genetic loss of dystrophin protein. Extracellular microRNAs (ex‐miRNAs) are putative, minimally invasive biomarkers of DMD. Specific ex‐miRNAs (e.g. miR‐1, miR‐133a,
Tirsa L.E. vanWestering, Yulia Lomonosova, Anna M.L. Coenen‐Stass, Corinne A. Betts, Amarjit Bhomra, Margriet Hulsker, Lucy E. Clark, Graham McClorey, Annemieke Aartsma‐Rus, Maaike vanPutten, Matthew J.A. Wood, Thomas C. Roberts   +11 more
doaj   +1 more source

CRISPR applications for Duchenne muscular dystrophy: From animal models to potential therapies

WIREs Mechanisms of Disease, Volume 15, Issue 1, January/February 2023., 2023
CRISPR‐Cas9 gene‐editing technology enables the rapid generation of animal models for Duchenne muscular dystrophy research and has potential to be developed as CRISPR therapy for the long lasting genetic correction of causal mutations. Abstract CRISPR gene‐editing technology creates precise and permanent modifications to DNA.
Yu C. J. Chey, Jayshen Arudkumar, Annemieke Aartsma‐Rus, Fatwa Adikusuma, Paul Q. Thomas   +4 more
wiley   +1 more source

The administration of antisense oligonucleotide golodirsen reduces pathological regeneration in patients with Duchenne muscular dystrophy

Acta Neuropathologica Communications, 2021
During the last decade, multiple clinical trials for Duchenne muscular dystrophy (DMD) have focused on the induction of dystrophin expression using different strategies.
Dominic Scaglioni, Francesco Catapano, Matthew Ellis, Silvia Torelli, Darren Chambers, Lucy Feng, Matthew Beck, Caroline Sewry, Mauro Monforte, Shawn Harriman, Erica Koenig, Jyoti Malhotra, Linda Popplewell, Michela Guglieri, Volker Straub, Eugenio Mercuri, Laurent Servais, Rahul Phadke, Jennifer Morgan, Francesco Muntoni   +19 more
doaj   +1 more source