Results 121 to 130 of about 114,439 (345)

Dystrophin Dp71 and the Neuropathophysiology of Duchenne Muscular Dystrophy

Molecular Neurobiology, 2019
Duchenne muscular dystrophy (DMD) is caused by frameshift mutations in the DMD gene that prevent the body-wide translation of its protein product, dystrophin.
Michael Naidoo, K. Anthony
semanticscholar   +1 more source

Proteomic Profiling of Myofiber Repair Annexins and Their Role in Duchenne Muscular Dystrophy

PROTEOMICS, EarlyView.
ABSTRACT Myofiber regeneration and membrane repair play crucial roles in maintaining the continuous physiological functioning of the neuromuscular system. A swift and efficient repair mechanism enables the rapid restoration of sarcolemmal integrity following cellular impairment in damaged skeletal muscles.
Paul Dowling, Dounia Bouragba, Elisa Negroni, Capucine Trollet, Margit Zweyer, Dieter Swandulla, Kay Ohlendieck   +6 more
wiley   +1 more source

Exosome-Mediated Benefits of Cell Therapy in Mouse and Human Models of Duchenne Muscular Dystrophy

Stem Cell Reports, 2018
Summary: Genetic deficiency of dystrophin leads to disability and premature death in Duchenne muscular dystrophy (DMD), affecting the heart as well as skeletal muscle.
Mark A. Aminzadeh, Russell G. Rogers, Mario Fournier, Rachel E. Tobin, Xuan Guan, Martin K. Childers, Allen M. Andres, David J. Taylor, Ahmed Ibrahim, Xiangming Ding, Angelo Torrente, Joshua M. Goldhaber, Michael Lewis, Roberta A. Gottlieb, Ronald A. Victor, Eduardo Marbán   +15 more
doaj   +1 more source

Protein Target Highlights in CASP16: Insights From the Structure Providers

Proteins: Structure, Function, and Bioinformatics, EarlyView.
ABSTRACT This article presents an in‐depth analysis of selected CASP16 targets, with a focus on their biological and functional significance. The authors highlight the most relevant features of the target proteins and discuss how well these were reproduced in the submitted predictions.
Leila T. Alexander, Océane M. Follonier, Andriy Kryshtafovych, Kim Abesamis, Sabrina Bibi‐Triki, Henry G. Box, Cécile Breyton, Françoise Bringel, Loic Carrique, Alessio d'Acapito, Gang Dong, Rebecca DuBois, Deborah Fass, Juliana Martinez Fiesco, Daniel R. Fox, Jonathan M. Grimes, Rhys Grinter, Matthew Jenkins, Roman Kamyshinsky, Jeremy R. Keown, Gerald Lackner, Michael Lammers, Shiheng Liu, Andrew L. Lovering, Tomas Malinauskas, Benoît Masquida, Gottfried J. Palm, Christian Siebold, Tiantian Su, Ping Zhang, Z. Hong Zhou, Krzysztof Fidelis, Maya Topf, John Moult, Torsten Schwede   +34 more
wiley   +1 more source

Caregivers and multidisciplinary team members’ perspectives on shared decision making in Duchenne muscular dystrophy: A qualitative study

Orphanet Journal of Rare Diseases
Background As new therapies for Duchenne muscular dystrophy (DMD) are entering the market, shared decision making (SDM) will become increasingly important.
Elise Schoefs, Thomas Desmet, Evelyn Lerinckx, Liesbeth De Waele, Sam Geuens, Conny Pelicaen, Luc Meeus, Steven Simoens, Chantal Van Audenhove, Mieke Mommen, Rosanne Janssens, Isabelle Huys   +11 more
doaj   +1 more source

A nitric oxide synthase transgene ameliorates muscular dystrophy in mdx mice. [PDF]

, 2001
Dystrophin-deficient muscles experience large reductions in expression of nitric oxide synthase (NOS), which suggests that NO deficiency may influence the dystrophic pathology.
Spencer, MJ, Tidball, JG, Wehling, M
core  

An ex vivo gene therapy approach to treat muscular dystrophy using inducible pluripotent stem cells. [PDF]

, 2013
Duchenne muscular dystrophy is a progressive and incurable neuromuscular disease caused by genetic and biochemical defects of the dystrophin-glycoprotein complex.
Borges, Luciene, Chamberlain, Jeffrey S, Darabi, Radbod, Ervasti, James M, Filareto, Antonio, Iacovino, Michelina, Kyba, Michael, Mayerhofer, Timothy, McIvor, R Scott, Parker, Sarah, Perlingeiro, Rita CR, Schaaf, Tory   +11 more
core   +2 more sources

Proteome‐Wide Analysis of Human Deletions

Proteins: Structure, Function, and Bioinformatics, EarlyView.
ABSTRACT Protein deletions are frequent among both natural and pathogenic variations. Many of them are misclassified in variation databases and the literature. Nonsense‐mediated decay prevents the expression of many nucleotide deletions. Many variants classified as protein deletions are not expressed at all.
Haoyang Zhang, Xinning Luan, Mauno Vihinen   +2 more
wiley   +1 more source

Analysis of eye movements in the judgment of enjoyment and non-enjoyment smiles

Frontiers in Psychology, 2013
Enjoyment smiles are more often associated with the simultaneous presence of the Cheek raiser and Lip corner puller action units, and these units’ activation is more often symmetric.
Mélanie ePerron, Annie eRoy-Charland
doaj   +1 more source

Modeling and Simulation Identifies Endocytosis Uptake Rate and Fraction Unbound as Important Predictors of Oligonucleotide Pharmacokinetics

CPT: Pharmacometrics &Systems Pharmacology, EarlyView.
ABSTRACT Therapeutic oligonucleotides (TOs) represent an emerging modality, which offers a promising alternative treatment option, particularly for intracellular targets. The two types of TOs, antisense oligonucleotides (ASO) and small interfering RNAs (siRNAs), distribute highly into tissues, especially into the liver and the kidneys.
Felix Stader, Abdallah Derbalah, Adriana Zyla, Cong Liu, Iain Gardner, Armin Sepp   +5 more
wiley   +1 more source