Results 121 to 130 of about 362,296 (275)

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

Optimized genomic editing of a common Duchenne muscular dystrophy mutation in patient-derived muscle cells and a new humanized mouse model

Molecular Therapy: Nucleic Acids
Duchenne muscular dystrophy (DMD) is a fatal X-linked, recessive disease caused by mutations in the DMD gene encoding dystrophin, a membrane-associated protein necessary for maintaining muscle structure and function.
Mateusz Z. Durbacz, Yu Zhang, Hui Li, Takahiko Nishiyama, Efrain Sanchez- Ortiz, John R. McAnally, Damir Alzhanov, Ning Liu, Eric N. Olson   +8 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

Single cell RNA sequencing of human FAPs reveals different functional stages in Duchenne muscular dystrophy

Frontiers in Cell and Developmental Biology
Background: Duchenne muscular dystrophy is a genetic disease produced by mutations in the dystrophin gene characterized by early onset muscle weakness leading to severe and irreversible disability. Muscle degeneration involves a complex interplay between
Esther Fernández-Simón, Patricia Piñol-Jurado, Rasya Gokul-Nath, Adrienne Unsworth, Jorge Alonso-Pérez, Marianela Schiava, Andres Nascimento, Andres Nascimento, Giorgio Tasca, Rachel Queen, Dan Cox, Xavier Suarez-Calvet, Xavier Suarez-Calvet, Jordi Díaz-Manera, Jordi Díaz-Manera, Jordi Díaz-Manera   +15 more
doaj   +1 more source

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

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

Nipocalimab Dose Selection in Generalized Myasthenia Gravis

CPT: Pharmacometrics &Systems Pharmacology, EarlyView.
Model‐Informed Nipocalimab Dose Selection for Generalized Myasthenia Gravis. ABSTRACT Nipocalimab is a fully human immunoglobulin G (IgG)1 monoclonal antibody (mAb) designed to selectively block the IgG binding site of neonatal fragment crystallizable receptor (FcRn) to inhibit IgG recycling and decrease circulating IgG, including pathogenic IgG ...
Belén Valenzuela, Martine Neyens, Yaowei Zhu, Sindhu Ramchandren, Anne‐Gaëlle Dosne, Jocelyn H. Leu, Ruben Faelens, Leona E. Ling, Juan‐José Pérez‐Ruixo   +8 more
wiley   +1 more source

In vivo genome editing improves muscle function in a mouse model of Duchenne muscular dystrophy

Science, 2016
Christopher E. Nelson, Chady H. Hakim, David G. Ousterout, P. Thakore, E. A. Moreb, R. Rivera, S. Madhavan, Xiufang Pan, F. Ran, Winston X. Yan, A. Asokan, Feng Zhang, D. Duan, C. Gersbach   +13 more
semanticscholar   +1 more source

Deep Brain Stimulation in Swallowing Disorders in Individuals With Parkinson's Disease: A Narrative Review

Sensory Neuroscience, EarlyView.
ABSTRACT Parkinson's disease (PD) is a progressive neurodegenerative disorder characterized by both motor and non‐motor symptoms, with dysphagia being one of the most frequent and debilitating complications in advanced stages. Deep brain stimulation (DBS), widely used to alleviate motor symptoms in PD, has recently drawn attention for its potential ...
Gizem Büyükönder, Mümüne Merve Parlak   +1 more
wiley   +1 more source

Nature Inspired Delivery Vehicles for CRISPR‐Based Genome Editing

Small, EarlyView.
The review highlights nature‐inspired nanocarriers for CRISPR delivery, emphasizing viral vectors, extracellular vesicles, liposomes, and lipid nanoparticles. It discusses their roles in improving specificity, minimizing immunogenicity, and overcoming barriers in genome editing. Recent advancements, challenges, and therapeutic applications are explored,
Elizabeth Maria Clarissa, Mamata Karmacharya, Hyunmin Choi, Sumit Kumar, Yoon‐Kyoung Cho   +4 more
wiley   +1 more source