Results 61 to 70 of about 4,506 (155)
Clinical and Translational Medicine, Volume 15, Issue 12, December 2025.Multisystem proteinopathy 1 (MSP1), caused by gain‐of‐function VCP variants, leads to multisystem degeneration. Using VCP patient‐derived hiPSCs, skeletal muscle progenitor cells were generated to evaluate antisense oligonucleotide (ASO) therapy.
Pallabi Pal +14 more
wiley +1 more source
Kelch proteins: emerging roles in skeletal muscle development and diseases [PDF]
, 2014 Our understanding of genes that cause skeletal muscle disease has increased tremendously over the past three decades. Advances in approaches to genetics and genomics have aided in the identification of new pathogenic mechanisms in rare genetic disorders ...
Beggs, Alan H, Gupta, Vandana A
core +1 more source
Spatially Resolved Profiling of Compartmentalized Muscle and Brain Inflammation
European Journal of Immunology, Volume 55, Issue 12, December 2025.This review summarizes emerging spatially resolved multi‐omics approaches revealing organized cell–cell interactions in skeletal muscle and brain inflammation. These tools uncover radiating molecular programs and niche‐specific immunopathology that shape cellular reactivity and vulnerability.
Thorge Dobbertin, Lucas Schirmer
wiley +1 more source
Sarcospan Regulates Cardiac Isoproterenol Response and Prevents Duchenne Muscular Dystrophy-Associated Cardiomyopathy. [PDF]
, 2015 BackgroundDuchenne muscular dystrophy is a fatal cardiac and skeletal muscle disease resulting from mutations in the dystrophin gene. We have previously demonstrated that a dystrophin-associated protein, sarcospan (SSPN), ameliorated Duchenne muscular ...
Crosbie-Watson, Rachelle H +6 more
core +1 more source
MedComm, Volume 6, Issue 12, December 2025.Alternative splicing (AS) expands proteomic diversity and functional complexity in eukaryotes, regulated by spliceosomal components, RNA elements, and epigenetic modifications. Dysregulated AS contributes to diseases, including cancer, neurodegenerative disorders, and cardiovascular conditions, among others. Therapeutic interventions, such as antisense
Zhi‐Min Zhu +5 more
wiley +1 more source
Journal of the Royal Society of New Zealand, Volume 55, Issue 6, Page 2440-2463, December 2025.ABSTRACT Gene editing therapies are designed to minimise off‐target editing. However, it is not widespread practice for common polymorphisms to be considered when identifying potential off‐target sites in silico. Nevertheless, genetic variants should be included as they have the potential to alter existing, or to generate new, off‐target sites.
Christopher Samson +5 more
wiley +1 more source
ACSS2 involved in acetyl‐CoA synthesis regulates skeletal muscle function
FEBS Letters, Volume 599, Issue 19, Page 2817-2827, October 2025.The enzyme acyl‐coenzyme A synthetase short‐chain family member‐2 (ACSS2) catalyzes the conversion of acetate to acetyl‐CoA, but its function in skeletal muscle is unclear. We studied ACSS2 deficiency in mouse and fly models. Skeletal muscle from the mouse model showed atrophic fibers, excess lipid, and depleted NADH.
Mekala Gunasekaran +6 more
wiley +1 more source
The impact of molecular biology on clinical neurology. [PDF]
, 2001 Advances in molecular biology have increased our understanding of both inherited and sporadic forms of neurological disease. In this review, the impact of these advances is discussed in relation to specific neurological conditions.
Ho, SL, Mak, W
core
The Journal of Physiology, Volume 603, Issue 19, Page 5273-5297, October 1, 2025.Abstract figure legend Fibro/adipogenic progenitors (FAPs) are cells resident in the muscle (skeletal and cardiac) niche. FAPs are active participants in the process of muscle degeneration in cardiovascular and neuromuscular diseases. Here, the accumulation of fatty and fibrous tissue is a hallmark.
Elisa Villalobos +2 more
wiley +1 more source
Cytokine genes as potential biomarkers for muscle weakness in OPMD [PDF]
, 2016 Item does not contain ...
Anvar +11 more
core +2 more sources