Results 111 to 120 of about 6,430 (245)

GREG cells, a dysferlin-deficient myogenic mouse cell line [PDF]

Experimental Cell Research, 2012
The dysferlinopathies (e.g. LGMD2b, Myoshi myopathy) are progressive, adult-onset muscle wasting syndromes caused by mutations in the gene coding for dysferlin. Dysferlin is a large (~200kDa) membrane-anchored protein, required for maintenance of plasmalemmal integrity in muscle fibers.
Humphrey, Glen W, Mekhedov, Elena, Blank, Paul S, de Morree, Antoine, Pekkurnaz, Gulcin, Nagaraju, Kanneboyina, Zimmerberg, Joshua   +6 more
openaire   +3 more sources

Dysferlin-mediated phosphatidylserine sorting engages macrophages in sarcolemma repair [PDF]

Nature Communications, 2016
Abstract Failure to repair the sarcolemma leads to muscle cell death, depletion of stem cells and myopathy. Hence, membrane lesions are instantly sealed by a repair patch consisting of lipids and proteins. It has remained elusive how this patch is removed to restore cell membrane integrity.
Volker Middel, Lu Zhou, Masanari Takamiya, Tanja Beil, Maryam Shahid, Urmas Roostalu, Clemens Grabher, Sepand Rastegar, Markus Reischl, Gerd Ulrich Nienhaus, Uwe Strähle   +10 more
openaire   +6 more sources

Muscle Cathepsin B Treatment Improves Behavioral and Neurogenic Deficits in a Mouse Model of Alzheimer's Disease

Aging Cell, Volume 24, Issue 11, November 2025.
Targeting muscle with Cathepsin B (Ctsb) to treat the AD mouse brain. In this study, an AAV‐vector‐mediated approach, utilized to express Ctsb in muscle, prevented mnemonic and neurogenic deficits and normalized hippocampal, muscle, and plasma proteomic profiles.
Alejandro Pinto, Hazal Haytural, Cássio Morais Loss, Claudia Alvarez, Asude Ertas, Olivia Curtis, Alyssa R. Williams, Grayson Murphy, Kenneth J. Salleng, Sylvia Gografe, Nishant P. Visavadiya, Andy V. Khamoui, Ali Altıntaş, Tal Kafri, Romain Barres, Atul S. Deshmukh, Henriette van Praag   +16 more
wiley   +1 more source

Otoferlin acts as a Ca2+ sensor for vesicle fusion and vesicle pool replenishment at auditory hair cell ribbon synapses [PDF]

, 2017
Hearing relies on rapid, temporally precise, and sustained neurotransmitter release at the ribbon synapses of sensory cells, the inner hair cells (IHCs).
Auclair, SM, Avan, P, Bahloul, A, Ciric, D, de Monvel, JB, Dulon, D, Emptoz, A, Goutman, JD, Guillon, M, Hardelin, J-P, Krishnakumar, SS, Michalski, N, Nouaille, S, Parrin, A, Petit, C, Rothman, JE, Sachse, M, Safieddine, S, Sutton, RB, Tertrais, M   +19 more
core   +1 more source

Caveolin Regulates Endocytosis of the Muscle Repair Protein, Dysferlin [PDF]

Journal of Biological Chemistry, 2008
Dysferlin and Caveolin-3 are plasma membrane proteins associated with muscular dystrophy. Patients with mutations in the CAV3 gene show dysferlin mislocalization in muscle cells. By utilizing caveolin-null cells, expression of caveolin mutants, and different mutants of dysferlin, we have dissected the site of action of caveolin with respect to ...
Hernandez-Deviez, D. J., Howes, M. T., Laval, S. H., Bushby, K., Hancock, J. F., Parton, R. G.   +5 more
openaire   +3 more sources

MyomiRs Expression in Limb Girdle Muscular Dystrophy

IUBMB Life, Volume 77, Issue 10, October 2025.
ABSTRACT This manuscript is a comprehensive review focused on the role of microRNAs (miRs)—short RNA molecules—in Limb Girdle Muscular Dystrophy (LGMD). LGMD encompasses various and heterogeneous rare genetic neuromuscular diseases, characterized by the progressive wasting and deterioration of muscle fibers, predominantly affecting the pelvic and ...
G. Breveglieri, M. T. Altieri, M. T. Rodia, R. Costa, F. Frabetti, G. Cenacchi, G. Sabbioni, M. Borgatti   +7 more
wiley   +1 more source

Increased circulating levels of interleukin-6 induce perturbation in redox-regulated signaling cascades in muscle of dystrophic mice [PDF]

, 2017
Duchenne muscular dystrophy (DMD) is an X-linked genetic disease in which dystrophin gene is mutated, resulting in dysfunctional or absent dystrophin protein.
Forcina, Laura, Musaro', Antonio, Nicoletti, Carmine, Pelosi, Laura, Scicchitano, Bianca Maria   +4 more
core   +3 more sources

From fibro/adipogenic progenitors to adipocytes: Understanding adipogenesis in muscle degeneration for disease modulation

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, Priyanka Mehra, Jordi Diaz‐Manera   +2 more
wiley   +1 more source

Amyloid deposits and inflammatory infiltrates in sporadic inclusion body myositis: the inflammatory egg comes before the degenerative chicken [PDF]

, 2015
International ...
Baziel G. M. van Engelen, David Hilton-Jones, Marco Sandri, Olivier Benveniste, Olivier Boyer, Werner Stenzel   +5 more
core   +3 more sources

A Network‐Driven Framework for Drug Response Precision Prediction of Acute Myeloid Leukemia

Advanced Science, Volume 12, Issue 36, September 25, 2025.
A network‐based precision medicine platform, named NetAML is offered for personalized treatment of AML. It combines network analysis and machine learning to develop 87 models predicting drug sensitivity for clinical drugs. NetAML identifies interpretable gene signatures that drive differential drug responses, enabling the prediction of individual ...
Yinyin Wang, Rui Liu, Yinnan Zhang, Xiang Luo, Chengzhuang Yu, Shentong Fang, Ninghua Tan, Jing Tang   +7 more
wiley   +1 more source