Results 131 to 140 of about 2,143,667 (228)

Blockage of autophagy causes severe skeletal muscle disruption in a mouse model for myofibrillar myopathy 6

Nature Communications
Myofibrillar myopathy 6 is a rare, autosomal-dominant neuromuscular disorder caused by an amino acid exchange Pro209Leu in the co-chaperone BAG3, which disrupts muscle protein turnover and causes severe muscle weakness and shortened lifespan.
Kerstin Filippi, Kathrin Graf-Riesen, Maithreyan Kuppusamy, Andreas Unger, Kenichi Kimura, Martin Matijass, Henrique Baeta, Magdalena Podlacha, Daniel Haertter, Alexei P. Kudin, Martin Wiemann, Grzegorz Węgrzyn, Cornelia Kornblum, Jens Reimann, Wolfgang A. Linke, Pitter F. Huesgen, Wolfram S. Kunz, Bernd K. Fleischmann, Michael Hesse   +18 more
doaj   +1 more source

Inositol trisphosphate receptor-mediated Ca2+ signalling stimulates mitochondrial function and gene expression in core myopathy patients. [PDF]

Hum Mol Genet, 2018
Suman M, Sharpe JA, Bentham RB, Kotiadis VN, Menegollo M, Pignataro V, Molgó J, Muntoni F, Duchen MR, Pegoraro E, Szabadkai G.   +10 more
europepmc   +1 more source

Perianesthetic Complications in Genetic Mitochondrial Disease: A Review of Case Reports

Pediatric Anesthesia, Volume 36, Issue 10, Page 1217-1230, October 2026.
ABSTRACT Background Genetic mitochondrial diseases (GMDs) are a large group of genetically and clinically heterogeneous disorders caused by defects in genes encoding mitochondrial components. GMDs are grouped into named syndromes based on clinical presentation, for example, Leigh syndrome (LS).
Brittany M. Johnson, Simon C. Johnson
wiley   +1 more source

Short‐term survival of mallards following external transmitter attachment

Ibis, Volume 168, Issue 4, Page 1721-1730, October 2026.
Capturing birds for external transmitter attachment allows researchers to collect abundant movement and behavioural data across spatial and temporal gradients but can expose birds to additional stress due to prolonged handling, sometimes leading to mortality.
Cassidy L. Waldrep, Madeline A. Ward, John M. Coluccy, Joshua C. Stiller, Jacob N. Straub, Nathaniel R. Huck, Ted. S Barney, Abigail C. Butler, Austin H. Damminger, Shawn W. Meyer, Theodore C. Nichols, Daria J. Sparks, Mathieu Tétreault, Mitch D. Weegman   +13 more
wiley   +1 more source

Adolescent idiopathic scoliosis without limb weakness: a differential diagnosis of core myopathy? [PDF]

BMC Musculoskelet Disord, 2015
Luciano Rde P, Puertas EB, Martins DE, Faloppa F, Del Curto D, Rodrigues LM, Schmidt B, de Oliveira AS, Wajchenberg M.   +8 more
europepmc   +1 more source

Immune Interactions Unique to Intradermal Microtoxin: Insights From Aesthetic, Therapeutic, and Vaccination Studies

Journal of Cosmetic Dermatology, Volume 25, Issue 10, October 2026.
ABSTRACT Introduction Intradermal botulinum toxin type A (BoNT‐A; microtoxin) has been shown to improve skin texture, superficial rhytides, and sweat/sebaceous activity through neuronal (cholinergic) and non‐neuronal pathways. While discussions around immune system interactions for BoNT‐A in aesthetic indications exist for intramuscular injection, the ...
Je‐Young Park, Luis Alberto Parra Hernandez, Hossam Elenany, Martina Kerscher, William Gregory Chernoff, Warner Carr, Samantha Tran   +6 more
wiley   +1 more source

Annexin A4 Deficient Ventricular Myocytes Display Advanced Hypertrophy and Electrical Remodeling With Chronic β‐Adrenoceptor Stimulation

The FASEB Journal, Volume 40, Issue 17, 15 September 2026.
Annexin A4 (A4) inhibits adenylyl cyclase 5 and may protect the heart during chronic β‐adrenergic stress. After 7 days of isoprenaline, A4‐deficient mice showed greater cardiomyocyte hypertrophy, prolonged action potentials, reduced Ito, preserved ICaL with altered activation, increased NCX1, and enhanced acute cAMP responsiveness compared with wild ...
Florentina Pluteanu, Alexander Heinick, Manuel Domnik‐Lehnert, Frank U. Müller, Christina Hermes   +4 more
wiley   +1 more source

Nucleic Acids as Emerging Regulators of Calcium Phosphate Biomineralization

The FASEB Journal, Volume 40, Issue 17, 15 September 2026.
Calcium phosphate biomineralization has traditionally been considered a protein‐regulated process. This review highlights the emerging role of nucleic acids, which interact with mineral phases through adsorption, coprecipitation, and templating, thereby influencing crystal nucleation and growth.
Fanny Duhalde, Jessem Landoulsi, Xavier Houard   +2 more
wiley   +1 more source

Quantitative analysis of ICU acquired weakness related literatures in China and visual analysis of research hotspots of SCI literatures

Huli yanjiu, 2018
Objective:To systematically analyze the metrological characteristics of domestic intensive care unit acquired weakness related literatures and research hotspots of SCI literatures,in order to determine the development trend of relevant studies.Methods ...
李苗苗, 罗健, 胡霞, 谢霖, 朱晓敏   +4 more
doaj  

Congenital core myopathy linked to <i>SOX5</i>: Expanding the phenotypical spectrum of Lamb-Shaffer syndrome. [PDF]

J Neuromuscul Dis
Staedler K, Gerasimenko A, Nava C, Heron D, Schaerer E, Gitiaux C, Authier FJ, Stojkovic T, Malfatti E, Villar-Quiles RN.   +9 more
europepmc   +1 more source