Results 61 to 70 of about 3,486 (173)

The Dysferlin Transcript Containing the Alternative Exon 40a is Essential for Myocyte Functions

Frontiers in Cell and Developmental Biology, 2021
Dysferlinopathies are a group of muscular dystrophies caused by recessive mutations in the DYSF gene encoding the dysferlin protein. Dysferlin is a transmembrane protein involved in several muscle functions like T-tubule maintenance and membrane repair ...
Océane Ballouhey, Sébastien Courrier, Virginie Kergourlay, Svetlana Gorokhova, Svetlana Gorokhova, Mathieu Cerino, Mathieu Cerino, Martin Krahn, Martin Krahn, Nicolas Lévy, Nicolas Lévy, Nicolas Lévy, Marc Bartoli   +12 more
doaj   +1 more source

Homologous recombination mediates functional recovery of dysferlin deficiency following AAV5 gene transfer. [PDF]

PLoS ONE, 2012
The dysferlinopathies comprise a group of untreatable muscle disorders including limb girdle muscular dystrophy type 2B, Miyoshi myopathy, distal anterior compartment syndrome, and rigid spine syndrome.
William E Grose, K Reed Clark, Danielle Griffin, Vinod Malik, Kimberly M Shontz, Chrystal L Montgomery, Sarah Lewis, Robert H Brown, Paul M L Janssen, Jerry R Mendell, Louise R Rodino-Klapac   +10 more
doaj   +1 more source

A Multiancestral Genome-Wide Exome Array Study of Alzheimer Disease, Frontotemporal Dementia, and Progressive Supranuclear Palsy [PDF]

, 2015
Importance Previous studies have indicated a heritable component of the etiology of neurodegenerative diseases such as Alzheimer disease (AD), frontotemporal dementia (FTD), and progressive supranuclear palsy (PSP).
Beekly, Duane L., Boxer, Adam, Chatzopoulou, Doxa, Chen, Jason A., Chui, Helena, Coppola, Giovanni, Cotman, Carl, Davis-Turak, Jeremy, DeCarli, Charles, Faber, Kelley M., Foroud, Tatiana M., Geschwind, Daniel H., Haase, Claudia M., Hsu, Sandy C., Huang, Alden Y., Karydas, Anna M., Klein, Eric, Kukull, Walter A., Lee, Jason, Levenson, Robert W., Levey, Allan I., Li, Yun, Mendez, Mario F., Miller, Bruce L., Miller, Josh, Poon, Wayne W., Ringman, John, Rosen, Ami, Rosen, Howard, Sapozhnikova, Anna, Sears, Renee L., Shapira, Jill, Varpetian, Arousiak, Wang, Qing, Wojta, Kevin J.   +34 more
core   +2 more sources

Comparison of dysferlin expression in human skeletal muscle with that in monocytes for the diagnosis of dysferlin myopathy.

PLoS ONE, 2011
BackgroundDysferlinopathies are caused by mutations in the dysferlin gene (DYSF). Diagnosis is complex due to the high clinical variability of the disease and because dysferlin expression in the muscle biopsy may be secondarily reduced due to a primary ...
Eduard Gallardo, Noemi de Luna, Jordi Diaz-Manera, Ricardo Rojas-García, Lidia Gonzalez-Quereda, Bàrbara Flix, Antoine de Morrée, Silvère van der Maarel, Isabel Illa   +8 more
doaj   +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

Muscle weakness in TPM3-myopathy is due to reduced Ca2+-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres. [PDF]

, 2015
Dominant mutations in TPM3, encoding α-tropomyosin(slow), cause a congenital myopathy characterized by generalized muscle weakness. Here, we used a multidisciplinary approach to investigate the mechanism of muscle dysfunction in 12 TPM3-myopathy patients.
Beggs, AH, Clarke, NF, Cooper, ST, de Winter, JM, Ilkovski, B, Klinge, L, Marston, SB, McNamara, E, Mokbel, N, North, KN, Nowak, KJ, Ottenheijm, CA, Ravenscroft, G, Rendu, J, Yuen, M   +14 more
core   +1 more source

The Molecular Diagnosis of Myopathies: Integrating Genomic, Proteomic, and Pathological Insights Toward Precision Medicine

Clinical Genetics, EarlyView.
Advances in genomic, proteomic, and transcriptomic technologies are transforming the diagnosis of genetic myopathies. When integrated with traditional muscle pathology, multi‐omics approaches improve diagnostic yield, clarify disease mechanisms, and support more precise, mechanism‐based therapeutic strategies for patients with neuromuscular disorders ...
Ludmila Alem, Denise de Abreu Pereira, Katia Carneiro   +2 more
wiley   +1 more source

Resolving candidate genes of mouse skeletal muscle QTL via RNA-Seq and expression network analyses [PDF]

, 2012
Peer reviewedPublisher ...
Blizard, David A, Carroll, Andrew M, Derry, Jonathan M J, Lionikas, Arimantas, Meharg, Caroline, Ratkevicius, Aivaras, Vandenbergh, David J   +6 more
core   +2 more sources

A novel homozygous variant (c.5876T > C: p. Leu1959Pro) in DYSF segregates with limb-girdle muscular dystrophy: a case report

BMC Musculoskeletal Disorders
Background Limb girdle muscular dystrophies (LGMDs) constitute a heterogeneous group of neuromuscular disorders with a very variable clinical presentation and overlapping traits.
Hamed Hesami, Serwa Ghasemi, Golnaz Houshmand, Yalda Nilipour, Mahshid Hesami, Alireza Biglari, Shahriar Nafissi, Majid Maleki, Samira Kalayinia   +8 more
doaj   +1 more source

RXR Gamma Enables Oligodendrocyte Differentiation by Suppressing Sonic Hedgehog Signaling

Glia, Volume 74, Issue 6, June 2026.
Using pharmacogenetic approaches, Baldassarro et al. demonstrate that RXRγ suppresses the SHH signaling pathway in OPCs to ensure their efficient differentiation following T3 stimulation. Accordingly, Rxrg−/− OPCs displayed compromised differentiation which was normalized by the pharmacological inhibition of the hyperactive SHH pathway.
Vito Antonio Baldassarro, Quentin Brassart, Valérie Fraulob, Laura Calzà, Wojciech Krezel   +4 more
wiley   +1 more source