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Keywords: Muscle
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Journal Articles
In collection:
Drosophila as a Disease Model
Journal:
Disease Models & Mechanisms
Dis Model Mech (2024) 17 (9): dmm050729.
Published: 29 August 2024
... of eEF1α are often challenging to uncouple and remain poorly understood in aging metazoan tissues. The genomes of mammals and Drosophila encode two eEF1α paralogs, with eEF1α1 expressed ubiquitously and eEF1α2 expression more limited to neurons and muscle cells. Here, we report that eEF1α2 plays a unique...
Includes: Supplementary data
Journal Articles
Trinitee Oliver, Nhu Y. Nguyen, Christopher B. Tully, Nikki M. McCormack, Christina M. Sun, Alyson A. Fiorillo, Christopher R. Heier
Journal:
Disease Models & Mechanisms
Dis Model Mech (2024) 17 (5): dmm050397.
Published: 21 May 2024
... dystrophy, prolonged exposure to glucocorticoids can cause muscle atrophy and weakness ( Ma et al., 2003 ; Seene, 1994 ), which is in stark contrast to the strength increases seen in DMD and has led to debate about their mechanism of action. Most directly, a hormonal disorder named Cushing's syndrome...
Includes: Supplementary data
Journal Articles
Karla G. Espinosa, Salma Geissah, Linda Groom, Jonathan Volpatti, Ian C. Scott, Robert T. Dirksen, Mo Zhao, James J. Dowling
Journal:
Disease Models & Mechanisms
Dis Model Mech (2022) 15 (5): dmm049437.
Published: 9 May 2022
...–contraction coupling (ECC). Bi-allelic autosomal-recessive mutations in striated muscle enriched protein kinase ( SPEG ) account for a subset of CNM patients. Previous research has been limited by the perinatal lethality of constitutive Speg knockout mice. Thus, the precise biological role of SPEG...
Includes: Supplementary data
Journal Articles
In collection:
Neuromuscular Disease
Danielle Vaughan, Robert Mitchell, Oliver Kretz, David Chambers, Maciej Lalowski, Helge Amthor, Olli Ritvos, Arja Pasternack, Antonios Matsakas, Sakthivel Vaiyapuri, Tobias B. Huber, Bernd Denecke, Abir Mukherjee, Darius Widera, Ketan Patel
Journal:
Disease Models & Mechanisms
Dis Model Mech (2021) 14 (2): dmm047555.
Published: 19 February 2021
... skeletal muscle atrophy in adult mammals by inhibiting protein synthesis as well as promoting protein and organelle turnover. Numerous strategies have been successfully developed to attenuate the signalling properties of these molecules, which result in augmenting muscle growth. However, these molecules...
Includes: Supplementary data
Journal Articles
In collection:
Neuromuscular Disease
Anna L. Gray, Leonette Annan, James R. T. Dick, Albert R. La Spada, Michael G. Hanna, Linda Greensmith, Bilal Malik
Journal:
Disease Models & Mechanisms
Dis Model Mech (2020) 13 (5): dmm042424.
Published: 26 May 2020
.... The pathological hallmarks of the disease are selective loss of spinal and bulbar motor neurons, accompanied by weakness, atrophy and fasciculations of bulbar and limb muscles. SBMA is caused by a CAG repeat expansion in the gene that encodes the androgen receptor (AR) protein. Disease manifestation is androgen...
Includes: Supplementary data
Journal Articles
In collection:
Neuromuscular Disease
Stephanie A. Fernandes, Camila F. Almeida, Lucas S. Souza, Monize Lazar, Paula Onofre-Oliveira, Guilherme L. Yamamoto, Letícia Nogueira, Letícia Y. Tasaki, Rafaela R. Cardoso, Rita C. M. Pavanello, Helga C. A. Silva, Merari F. R. Ferrari, Anne Bigot, Vincent Mouly, Mariz Vainzof
Journal:
Disease Models & Mechanisms
Dis Model Mech (2020) 13 (2): dmm041244.
Published: 10 January 2020
...-Rus; James Dowling; Maaike van Putten ABSTRACT X-linked myopathy with excessive autophagy (XMEA) is a genetic disease associated with weakness of the proximal muscles. It is caused by mutations in the VMA21 gene, coding for a chaperone that functions in the vacuolar ATPase (v-ATPase) assembly...
Includes: Supplementary data
Journal Articles
Mary P. Colasanto, Shai Eyal, Payam Mohassel, Michael Bamshad, Carsten G. Bonnemann, Elazar Zelzer, Anne M. Moon, Gabrielle Kardon
Journal:
Disease Models & Mechanisms
Dis Model Mech (2016) 9 (11): 1257–1269.
Published: 1 November 2016
...Mary P. Colasanto; Shai Eyal; Payam Mohassel; Michael Bamshad; Carsten G. Bonnemann; Elazar Zelzer; Anne M. Moon; Gabrielle Kardon ABSTRACT In the vertebrate limb over 40 muscles are arranged in a precise pattern of attachment via muscle connective tissue and tendon to bone and provide an extensive...
Includes: Supplementary data
Journal Articles
Journal:
Disease Models & Mechanisms
Dis Model Mech (2016) 9 (6): 697–705.
Published: 1 June 2016
...Arunita Chatterjee; Debasish Roy; Esha Patnaik; Upendra Nongthomba ABSTRACT Muscle contraction brings about movement and locomotion in animals. However, muscles have also been implicated in several atypical physiological processes including immune response. The role of muscles in immunity...
Includes: Supplementary data
Journal Articles
M. David Stewart, Suhujey Lopez, Harika Nagandla, Benjamin Soibam, Ashley Benham, Jasmine Nguyen, Nicolas Valenzuela, Harry J. Wu, Alan R. Burns, Tara L. Rasmussen, Haley O. Tucker, Robert J. Schwartz
Journal:
Disease Models & Mechanisms
Dis Model Mech (2016) 9 (3): 347–359.
Published: 1 March 2016
... muscle. Because Smyd1- null mouse embryos die from heart malformation prior to formation of skeletal muscle, we developed a Smyd1 conditional-knockout allele to determine the consequence of SMYD1 loss in mammalian skeletal muscle. Ablation of SMYD1 specifically in skeletal myocytes after myofiber...
Includes: Supplementary data
Journal Articles
Kandice Fero, Sadie A. Bergeron, Eric J. Horstick, Hiba Codore, Grace H. Li, Fumihito Ono, James J. Dowling, Harold A. Burgess
Journal:
Disease Models & Mechanisms
Dis Model Mech (2014) 7 (2): 289–298.
Published: 1 February 2014
...Kandice Fero; Sadie A. Bergeron; Eric J. Horstick; Hiba Codore; Grace H. Li; Fumihito Ono; James J. Dowling; Harold A. Burgess ABSTRACT An essential step in muscle fiber maturation is the assembly of highly ordered myofibrils that are required for contraction. Much remains unknown about...
Includes: Supplementary data