Results 81 to 90 of about 11,986 (188)

Sustained Activation of CaMKII Promotes Skeletal Muscle Contractile Dysfunction in Aging

Aging Cell, Volume 25, Issue 9, September 2026.
CaMKII exemplifies antagonistic pleiotropy in skeletal muscle. Exercise‐related Ca2+/redox signals drive transient CaMKII activation supporting youthful performance. Here we show CaMKII is upregulated in aged muscle, where dysregulated Ca2+/redox signals likely sustain its activity; constitutively active CaMKII recapitulates aging‐associated ...
Michael R. Bene, Tae Chung, Elizabeth D. Luczak, Gabriel Lopez‐Cecetaite, William A. Fountain, Giovanni Rosales‐Soto, Erick Hernández‐Ochoa, Corina Antonescu, Liliana Florea, Seeun J. Jeong, Emily Elassal, Anne Le, Qian‐Li Xue, Ahmet Hoke, Peter M. Abadir, Qinchuan Wang   +15 more
wiley   +1 more source

S1‐Leitlinie Schweißdrüsenkarzinom

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 24, Issue 9, Page 1356-1384, September 2026.
Zusammenfassung Die aktuelle Einteilung der Schweißdrüsenkarzinome erfolgt nach histomorphologischen Charakteristika und unterscheidet mehr als 20 Entitäten. Es sind meist Patienten höheren, bei einigen Subtypen aber auch mittleren und jüngeren, Lebensalters betroffen. Die Mehrheit der Tumoren entsteht de novo.
Mirjana Ziemer, Michael Erdmann, Abbas Agaimy, Jürgen C. Becker, Almut Böer‐Auer, Doris Helbig, Cornelia Erfurt‐Berge, Alexander Frisman, Conrad Hempel, Ulrike Leiter, Friedegund Meier, Thomas Mentzel, Lara Racz, Silke Redler, Stefan Schliep, Clemens Seidel, Alpaslan Tasdogan, Jochen Utikal, Carsten Weishaupt, Selma Ugurel   +19 more
wiley   +1 more source

S1 guideline sweat gland carcinoma

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 24, Issue 9, Page e1356-e1385, September 2026.
Summary The current classification of sweat gland carcinomas is based on histomorphological characteristics and distinguishes between more than 20 entities. Most patients are older, but some subtypes also affect middle‐aged and younger patients. The majority of tumors arise de novo. Sweat gland carcinomas have nonspecific clinical features.
Mirjana Ziemer, Michael Erdmann, Abbas Agaimy, Jürgen C. Becker, Almut Böer‐Auer, Doris Helbig, Cornelia Erfurt‐Berge, Alexander Frisman, Conrad Hempel, Ulrike Leiter, Friedegund Meier, Thomas Mentzel, Lara Racz, Silke Redler, Stefan Schliep, Clemens Seidel, Alpaslan Tasdogan, Jochen Utikal, Carsten Weishaupt, Selma Ugurel   +19 more
wiley   +1 more source

ReAsH labeling of Tc-tagged RyR1.

, 2013
(A) ReAsH binding to an optimized Tc tag attached to a YFP-RyR1 fusion protein (FLN(YFP)RyR1) was assessed via determination of YFP/ReAsH colocalization in intact cells. Black bar indicates RyR1 primary sequence. (B) ReAsH labeling timecourse of HEK-293T
Mohana Mahalingam (416109), James D. Fessenden (158425)   +1 more
core   +1 more source

TUBA4A Pathogenic Variant Manifesting With Adulthood‐Onset Genetic Myasthenic Syndrome, Myopathy, and Infertility

European Journal of Neurology, Volume 33, Issue 9, September 2026.
ABSTRACT Objectives TUBA4A pathogenic variants are associated with ALS, frontotemporal dementia, spastic ataxia, spasticity, ataxia, Parkinson's disease, female infertility, macrothrombocytopenia, and myopathy. Four recently reported patients with TUBA4A neonatal/childhood onset myopathy had also a decrement on repetitive nerve stimulation (RNS), but ...
Margherita Milone, Stefan Nicolau, Zhiyv Niu, Teerin Liewluck, Eric J. Sorenson, Xin‐Ming Shen, C. Michael Harper, William J. Litchy   +7 more
wiley   +1 more source

Structural insights into transmembrane helix S0 facilitated RyR1 channel gating by Ca2+/ATP

Nature Communications
The type-1 ryanodine receptor (RyR1) is an intracellular calcium release channel for skeletal muscle excitation-contraction coupling. Previous structural studies showed that the RyR1 activity is modulated by the exogenous regulators including caffeine ...
Risheng Wei, Qiang Chen, Lei Zhang, Congcong Liu, Chuang Liu, Chang-Cheng Yin, Hongli Hu   +6 more
doaj   +1 more source

Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies [PDF]

, 2017
Dominant mutations in the skeletal muscle ryanodine receptor (RYR1) gene are well-recognized causes of both malignant hyperthermia susceptibility (MHS) and central core disease (CCD).
Rose, Michael R., Zhou, Haiyan, D'Amico, Adele, Bushby, Kate, Treves, Susan, Appleton, Richard, Müller, Clemens R., Sewry, Caroline A., Swash, Michael, Muntoni, Francesco, Bertini, Enrico, Straub, Volker, Messina, Sonia, Roper, Helen, Quinlivan, Ros, Brockington, Martin, Brown, Susan, Robb, Stephanie, Jungbluth, Heinz, Manzur, Adnan, Kinali, Maria, Feng, Lucy   +21 more
core  

RyR1/RyR3 Chimeras Reveal that Multiple Domains of RyR1 Are Involved in Skeletal-Type E-C Coupling [PDF]

, 2003
Skeletal-type E-C coupling is thought to require a direct interaction between RyR1 and the α1S-DHPR. Most available evidence suggests that the cytoplasmic II–III loop of the dihydropyridine receptor (DHPR) is the primary source of the orthograde signal ...
Pessah, Isaac N., Allen, Paul D., Perez, Claudio F., Voss, Andrew   +3 more
core   +1 more source

RYR1-Related Myopathies Involve More than Calcium Dysregulation: Insights from Transcriptomic Profiling

Biomolecules
Ryanodine receptor 1-related myopathies (RYR1-RM) are caused by RYR1 gene variants and comprise a wide spectrum of histopathological manifestations. Here, we focus on patients carrying RYR1 variants and muscle histopathology consistent with central core ...
Daniele Sabbatini, Domenico Gorgoglione, Giovanni Minervini, Aurora Fusto, Matteo Suman, Chiara Romualdi, Sara Vianello, Giuliana Capece, Gianni Sorarù, Caterina Marchioretti, Maria Pennuto, Luca Vedovelli, Gyorgy Szabadkai, Luca Bello, Elena Pegoraro   +14 more
doaj   +1 more source

6-minute walk test as a measure of disease progression and fatigability in a cohort of individuals with RYR1-related myopathies

Orphanet Journal of Rare Diseases, 2018
Background RYR1-related Myopathies (RYR1-RM) comprise a group of rare neuromuscular diseases (NMDs) occurring in approximately 1/90000 people in the US pediatric population.
Jessica W. Witherspoon, Ruhi P. Vasavada, Melissa R. Waite, Monique Shelton, Irene C. Chrismer, Paul G. Wakim, Minal S. Jain, Carsten G. Bönnemann, Katherine G. Meilleur   +8 more
doaj   +1 more source