Results 71 to 80 of about 2,813 (174)

Antisense oligonucleotides targeting valosin‐containing protein ameliorate muscle pathology and molecular defects in cell and mouse models of multisystem proteinopathy

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, Michele Carrer, Lan Weiss, Olga G. Jaime, Cheng Cheng, Alyaa Shmara, Victoria Boock, Danae Bosch, Marwan Youssef, Yasamin Fazeli, Megan Afetian, Tamar R. Grossman, Michael R. Hicks, Paymaan Jafar‐nejad, Virginia Kimonis   +14 more
wiley   +1 more source

Cross-sectional serum metabolomic study of multiple forms of muscular dystrophy [PDF]

, 2018
Muscular dystrophies are characterized by a progressive loss of muscle tissue and/or muscle function. While metabolic alterations have been described in patients'-derived muscle biopsies, non-invasive readouts able to describe these alterations are ...
Kristina Hettne, Jesse B.A. Hemerik, Hemerik, J.B.A., Politano, Luisa, Sabir, Ekrem, Aartsma-Rus, A., Politano, L., Alexandre Seyer, Hettne, Kristina, Picillo, Esther, Picillo, E., Spitali, P., Pietro Spitali, Hettne, K., Goeman, Jelle J., Annemieke Aartsma‐Rus, Luisa Politano, Hemerik, Jesse B. A.; id_orcid, Ekrem Sabir, Seyer, Alexandre, Goeman, J.J., Goeman, Jelle J, Hemerik, Jesse B. A, Jelle J. Goeman, Ergoli, Manuela, Roula Tsonaka, Manuela Ergoli, Aartsma-Rus, Annemieke, Tsonaka, Roula, Sabir, E., Esther Picillo, Seyer, A., Spitali, Pietro, Tsonaka, R., Ergoli, M.   +34 more
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

OP0079 LIMB GIRDLE MUSCULAR DYSTROPHY TYPE 2B - A RARE MYOSITIS MIMIC [PDF]

Annals of the Rheumatic Diseases, 2021
A. Merriman, S. Boyle
openaire   +1 more source

Alternative Splicing: Molecular Mechanisms, Biological Functions, Diseases, and Potential Therapeutic Targets

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, Xiao‐Mei Wu, Yan Hu, Xiao‐Lan Bian, Ya‐Qin Wang, Qiong‐Ni Zhu   +5 more
wiley   +1 more source

Proximal predicament: A clinical journey to limb-girdle muscular dystrophies type 2B

Indian Journal of Case Reports
Limb-girdle muscular dystrophies (LGMDs) represent a heterogeneous group of genetically inherited myopathies characterized by progressive proximal muscle weakness. LGMD Type R2 (formerly 2B), caused by mutations in the DYSF gene encoding dysferlin, often presents with insidious lower limb weakness and elevated creatine kinase (CK) levels.
Abulkalam Atiqurrehman Sirajwala, Rajvi Dinesh Raval, Shifa M Karatela, Apurva G Patel   +3 more
openaire   +1 more source

A bioinformatic analysis of gene editing off‐target loci altered by common polymorphisms, using ‘PopOff’

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, Alex du Rand, John Hunt, Whitney Whitford, Jessie Jacobsen, Hilary Sheppard   +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, Gloriana Campos, Natalya M. Wells, Khanhlinh Lambuu, Isabelle Draper, Christina A. Pacak, Peter B. Kang   +6 more
wiley   +1 more source

of an adolescent girl with limb-girdle muscular dystrophy type 2B – the usefulness of muscle protein immunostaining in the diagnosis of dysferlinopathies

Folia Neuropathologica, 2014
Dysferlinopathies are rare disorders of muscle that present two main phenotypes: Miyoshi myopathy with primarily distal weakness and limb-girdle muscular dystrophy type 2B (LGMD2B) with primarily proximal weakness. They are caused by mutations in the gene encoding the skeletal muscle protein dysferlin, which is involved in muscle repair.
Sylwia, Szymanska, Dariusz, Rokicki, Agnieszka, Karkucinska-Wieckowska, Tamara, Szymanska-Debinska, Elzbieta, Ciara, Rafal, Ploski, Wieslawa, Grajkowska, Maciej, Pronicki   +7 more
openaire   +2 more sources

Genetic heterogeneity in Miyoshi-type distal muscular dystrophy

, 1998
Miyoshi-type distal muscular dystrophy (MMD) is an autosomal recessively inherited progressive disorder. The putative locus of MMD is linked to the limb-girdle muscular dystrophy 2B locus on chromosome 2p12-14.
Wokke, J. H., Notermans, NC, Wokke, JHJ, van Doorn, Pieter; id_orcid, Baas, F, Linssen, WHJP, Bolhuis, PA, Bolhuis, P. A., Notermans, N. C., Linssen, W. H., Vreyling, J. P., de Visser, M., Baas, F., Vreyling, JP, van Doorn, P. A., Visser, M   +15 more
core   +1 more source