Results 61 to 70 of about 2,813 (174)

TRIM32 controls timely cell cycle exit in muscular differentiation through downregulation of c‐Myc mRNA

The FEBS Journal, EarlyView.
Trim32 regulates the transition from proliferation to differentiation in C2C12 cells after myogenic induction. We found that, at the onset of differentiation, Trim32 destabilizes c‐Myc mRNA, promotes cell cycle exit, and enables normal myotube formation.
Lu Xiong, Elisa Lazzari, Sabrina Pacor, Simeone Dal Monego, Erica Piovesan, Danilo Licastro, Germana Meroni   +6 more
wiley   +1 more source

Characterization of FER1L5, a novel dysferlin myoferlin related protein [PDF]

, 2009
The ferlins are mammalian homologues of the C-elegans sperm vesicle fusion protein FER-1 characterised by multiple C2 domains and a C-terminal anchor.
Ramachandran, Usha Kalyani
core  

Skeletal muscle‐specific myostatin overexpression promotes muscle oxidative capacity and fatigue resistance in transgenic mice

Experimental Physiology, EarlyView.
Abstract In addition to controlling muscle mass, myostatin may support oxidative metabolism and endurance. Loss of function through gene knockout or post‐natal blockade generally lowers muscle oxidative capacity and increases fatigability. These observations imply that myostatin activation could promote a more oxidative and less fatigable muscle ...
Andy V. Khamoui, Andrea Abraham, Janos Porszasz, Istvan Kovanecz, Silvana Constantinescu, Harry B. Rossiter, Suzanne Reisz‐Porszasz   +6 more
wiley   +1 more source

Validation of the North Star Assessment for Limb-Girdle Type Muscular Dystrophies [PDF]

, 2022
\ua9 The Author(s) 2022. Published by Oxford University Press on behalf of the American Physical Therapy Association.OBJECTIVE: The North Star Assessment for limb-girdle type muscular dystrophies (NSAD), a clinician-reported outcome measure (ClinRO) of ...
Eagle M, Lowes LP, Muni-Lofra R, Richardson M, Mayhew AG, Shannon K, James MK, Iammarino MA, Sodhi J, McCallum M, Reash NF, Marini-Bettolo C, Moat D, Straub V, Alfano LN   +14 more
core  

Identification of Novel Antisense-Mediated Exon Skipping Targets in DYSF for Therapeutic Treatment of Dysferlinopathy

Molecular Therapy: Nucleic Acids, 2018
Dysferlinopathy is a progressive myopathy caused by mutations in the dysferlin (DYSF) gene. Dysferlin protein plays a major role in plasma-membrane resealing.
Joshua J.A. Lee, Rika Maruyama, William Duddy, Hidetoshi Sakurai, Toshifumi Yokota   +4 more
doaj   +1 more source

Dysferlin-deficient muscular dystrophy features amyloidosis

, 2008
OBJECTIVE: Dysferlin (DYSF) gene mutations cause limb girdle muscular dystrophy type 2B and Miyoshi's myopathy. The consequences of DYSF mutations on protein structure are poorly understood.
Kate Bushby, Miriam Carl, Christoph Rocken, Zabojszcza, J., Volker Straub, Bushby, K., Simone Spuler, Spuler, S., Bähring, S., Rocken, C., Katrin Wenzel, Wenzel, K., Steven A. Moore, Carl, M., Vinkemeier, U., Joanna Zabojszcza, Moore, S.A., Straub, V., Uwe Vinkemeier, Sylvia Bähring   +19 more
core   +1 more source

RUNX2 Activation in Fibro/Adipogenic Progenitors Promotes Muscle Fibrosis in Muscular Dystrophy

Advanced Science, Volume 13, Issue 13, 3 March 2026.
This study revealed a novel role of the chemokine‐TGF‐β1‐RUNX2 axis in determining the fate of FAP differentiation and modulating muscle fibrosis in patients and mice with muscular dystrophies. ABSTRACT Clinical evidence indicates concurrent muscle inflammation and fibrosis in muscular dystrophies (MDs); however, the molecular mechanisms underlying ...
Pengkai Wu, Zehua Zhang, Kai Zheng, Ziqi Zhu, Yong Zhu, Abdukahar Kiram, Lei Zhao, Huihui Chen, Zhu Xu, Xihua Li, Beicheng Sun, Zhijian Li, Dengqiu Xu   +12 more
wiley   +1 more source

SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights

Annals of Clinical and Translational Neurology, Volume 13, Issue 2, Page 285-295, February 2026.
ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas, Pablo Iruzubieta, Alberto Damborenea, Laura Pérez‐Fernández, Inmaculada Azorín, Juan Carlos Jiménez García, Ana Töpf, Pilar Martí, Lorena Fores‐Toribio, María Manterola, Rosana Blanco‐Mañez, Oihane Pikatza‐Menoio, Sonia Alonso‐Martín, Volker Straub, Aitziber L. Cortajarena, Adolfo López de Munain, David De Sancho, Lorea Blázquez, Juan J. Vilchez   +18 more
wiley   +1 more source

Are Muscular Dystrophies Cholesterol‐Handling Diseases? Lessons From HMGCR Variants and Statin‐Associated Myopathies

JCSM Communications, Volume 9, Issue 1, January/June 2026.
ABSTRACT Background Muscular dystrophies (MD) are a genetically diverse group of muscle disorders, many of which arise from mutations in genes encoding components of the sarcolemma dystrophin‐associated glycoprotein complex (DGC). Despite their notorious heterogeneity, MDs consistently lead to chronic myofiber weakening, necrosis and loss of muscle ...
Yejin Kang, Pascal Bernatchez
wiley   +1 more source

Clinical practice with steroid therapy for Duchenne muscular dystrophy: An expert survey in Asia and Oceania [PDF]

, 2020
Background LMNA-related muscular dystrophy is caused by mutations in LMNA gene. We aimed to identify genetic variations and clinical features in a large cohort of Chinese patients with LMNA mutations in an attempt to establish genotype-phenotype ...
Wong, KT, Goh, KJ, Khan, S, Khadilkar, SV, Ohnmar, O, Nakamura, H, Dejthevaporn, C, Kim, DS, Chan, SHS, Chai, J, Nonaka, I, Shen, D, Komaki, H, Yonemoto, N, Rosales, RL, Takeda, S, Nishino, I, Kornberg, AJ, Bretag, AH, Jong, YJ, Takeuchi, F   +20 more
core   +1 more source