Results 41 to 50 of about 206,878 (242)

Targeting Nfix to fix muscular dystrophies [PDF]

, 2017
Muscular dystrophies (MDs) are still incurable heterogeneous diseases, characterized by muscle wasting, replacement by fibrotic tissue, and increasing weakness, which in severe cases, such as Duchenne MD, lead to premature death. MDs are due to mutations
Taglietti, Valentina, Rossi, Giuliana, Messina, Graziella, Valentina Taglietti, Giuliana Rossi, Graziella Messina   +5 more
core   +1 more source

Plasma EV Proteomics Identifies ECM Remodeling and Inflammatory Proteins LUM and C7 as Candidate Biomarkers in FSHD

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Facioscapulohumeral muscular dystrophy (FSHD) is one of the most debilitating and common muscular dystrophies. Despite its severity, no approved therapy exists for FSHD patients. However, several therapeutic candidates are currently under development, and some have recently entered clinical trials, marking the need for reliable ...
Mustafa Bilal Bayazit, Chiranth K. Nagaraj, Jackson S. Newell, Kim Truc Nguyen, Xilal Y. Rima, Jacob Doon‐Ralls, Eduardo Reátegui, Jeffrey M. Statland, Rabi Tawil, Kevin M. Flanigan, Scott Q. Harper, Nizar Y. Saad   +11 more
wiley   +1 more source

Immunobiology of Inherited Muscular Dystrophies [PDF]

, 2018
The immune response to acute muscle damage is important for normal repair. However, in chronic diseases such as many muscular dystrophies, the immune response can amplify pathology and play a major role in determining disease severity.
Tidball, James G, Michelle Wehling‐Henricks, James G. Tidball, Steven S. Welc, Welc, Steven S, Wehling-Henricks, Michelle   +5 more
core   +1 more source

Quantitative MRI Uncovers Subtle Cortical Damage in Myelin Oligodendrocyte Glycoprotein Antibody‐Associated Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To determine whether myelin‐sensitive quantitative MRI reveals microstructural abnormalities in normal‐appearing cortex (NACtx) in myelin oligodendrocyte glycoprotein antibody–associated disease (MOGAD), indicating that conventional MRI underestimates remission residual cortical injury.
Valentina Camera, Agnese Tamanti, Silvia Messina, Nicola Dall'Osto, Teresa Maltempo, Stefano Ziccardi, Matteo Foschi, Maria Grazia Piscaglia, Diana Ferraro, Francesco Crescenzo, Francesca Rossi, Albulena Bajrami, Sabrina Marangoni, Damiano Marastoni, Francesca Benedetta Pizzini, Maria Isabel Leite, Roberta Magliozzi, Patrick Waters, Massimiliano Calabrese, Jacqueline Palace, Ruth Geraldes   +20 more
wiley   +1 more source

Depletion of skeletal muscle satellite cells attenuates pathology in muscular dystrophy

Nature Communications, 2022
Boyer et al. created genetic mouse models of muscular dystrophy in which satellite cells were selectively depleted. The depletion of satellite cells at select times was protective.
Justin G. Boyer, Jiuzhou Huo, Sarah Han, Julian R. Havens, Vikram Prasad, Brian L. Lin, David A. Kass, Taejeong Song, Sakthivel Sadayappan, Ramzi J. Khairallah, Christopher W. Ward, Jeffery D. Molkentin   +11 more
doaj   +1 more source

Artificial restoration of the linkage between laminin and dystroglycan ameliorates the disease progression of MDC1A muscular dystrophy at all stages [PDF]

, 2005
Laminin-α2 deficient congenital muscular dystrophy, classified as MDC1A, is a severe progressive muscle-wasting disease that leads to death in early childhood.
Meinen, Sarina
core   +1 more source

Autoimmune Comorbidities as Modifiers of Phenotypic Heterogeneity in Facioscapulohumeral Dystrophy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Facioscapulohumeral dystrophy type 1 (FSHD1) shows clinical heterogeneity that is only partly explained by D4Z4 repeat unit (RU) size. Although immune and inflammatory mechanisms may contribute to disease variability, the prevalence and clinical impact of autoimmune diseases in FSHD remain unclear.
Jonathan Pini, Giulia Tammam, Andra Ezaru, Manuela Gambella, Benoît Sanson, Luisa Villa, Michele Cavalli, Mihai‐Bogdan Ioncea, Angela Puma, Sabrina Sacconi   +9 more
wiley   +1 more source

Myogenic Fusogen‐Engineered Lipid Nanoparticles Enhance mRNA Delivery in Skeletal Muscle

Advanced Functional Materials, EarlyView.
This study reports a biomimetic strategy of engineering full‐length Myomaker, a muscle‐specific fusogen, into lipid nanoparticles (LNPs) to harness the native myoblast fusion capability for skeletal muscle mRNA delivery. The resulting Mymk‐LNPs enhance transfection in differentiating myocytes and enable Cre‐mediated reporter activation in injured ...
Fangyu Zhang, Zhisheng Xu, Yaou Duan, Yehui Sun, Shiying Wu, Tao Long, Mateusz Durbacz, Li Zhang, Yufen Xiao, Yu‐Chung Pien, Erick D. Guerrero, Zeru Tian, Xu Wang, Pratima Basak, Sumanta Chatterjee, Ning Liu, Xiaochun Li, Eric N. Olson, Daniel J. Siegwart   +18 more
wiley   +1 more source

LMNA‐related muscular dystrophy presenting as an inflammatory myopathy

Annals of the Child Neurology Society
Introduction There are overlapping features between inflammatory myopathies and muscular dystrophies, particularly laminopathies. Key features that characterize laminopathies include axial and proximal weakness, contractures, and cardiac abnormalities ...
Alexandra Santana Almansa, Stephen M. Chrzanowski, Farrah Rajabi, Megan Day‐Lewis, Pui Y. Lee, Hart G. W. Lidov, Laura L. Lehman, Leslie H. Hayes   +7 more
doaj   +1 more source

Delivery of genetic medicines for muscular dystrophies

Cell Reports Medicine
Summary: Muscular dystrophies are a group of heterogenic disorders characterized by progressive muscle weakness, the most common of them being Duchenne muscular dystrophy (DMD).
Yulia Chulanova, Dor Breier, Dan Peer
doaj   +1 more source