Results 21 to 30 of about 31,110 (115)

A SPONTANEOUS MOUSE MODEL OF X-LINKED MYOPATHY WITH EXCESSIVE AUTOPHAGY [PDF]

, 2011
the subject of the thesis research project, aims to characterize a murine model for spontaneous muscle pathology comparable to human "X-Linked Vacuolar myopathy with Excessive Autophagy (XMEA)".
Iovane, Valentina
core   +1 more source

Novel Desmin Mutation Causing Myofibrillar Myopathy in a Hmong Family

Frontiers in Neurology, 2020
Myofibrillar myopathies (MFM) are a clinically and genetically heterogenous group of inherited myopathies characterized by aggregation of Z-disc proteins. Mutations in desmin account for ~7% of MFM.
Stefan Nicolau, Benjamin M. Howe, Elie Naddaf   +2 more
doaj   +1 more source

Physical, Chemical and Histological Characterization of Pectoralis major Muscle of Broilers Affected by Wooden Breast Myopathy

Animals, 2021
This study aimed to characterize the effects of wooden breast myopathy (WBM) on quality of broiler chicken breast meat. Normal samples (absence of myopathy), moderate-degree samples (hardness only in one area of the breast fillet) and severe-degree ...
Rodrigo Fortunato de Oliveira, Juliana Lolli Malagoli de Mello, Fábio Borba Ferrari, Erika Nayara Freire Cavalcanti, Rodrigo Alves de Souza, Mateus Roberto Pereira, Aline Giampietro-Ganeco, Erick Alonso Villegas-Cayllahua, Heloisa de Almeida Fidelis, Maísa Santos Fávero, Lizandra Amoroso, Pedro Alves de Souza, Hirasilva Borba   +12 more
doaj   +1 more source

FLNC myofibrillar myopathy results from impaired autophagy and protein insufficiency [PDF]

, 2016
Myofibrillar myopathy is a progressive muscle disease characterized by the disintegration of muscle fibers and formation of protein aggregates. Causative mutations have been identified in nine genes encoding Z-disk proteins, including the actin binding ...
Bryson-Richardson, Robert J, Ruparelia, Avnika A, Oorschot, Viola, Ramm, Georg   +3 more
core   +1 more source

Diverse myopathological features in the congenital myasthenia syndrome with GFPT1 mutation

Brain and Behavior, 2022
Introduction Mutations in the GFPT1 gene are associated with a particular subtype of congenital myasthenia syndrome (CMS) called limb‐girdle myasthenia with tubular aggregates.
Kaiyan Jiang, Yilei Zheng, Jing Lin, Xiaorong Wu, Yanyan Yu, Min Zhu, Xin Fang, Meihong Zhou, Xiaobing Li, Daojun Hong   +9 more
doaj   +1 more source

Expression of protein-kinase C isoforms and interleukin-1β in myofibrillar myopathy

, 2004
Background: The term myofibrillar myopathy refers to a rare and clinically heterogeneous group of muscle disorders. The pathogenesis of this myopathy is not well understood. The morphologic hallmark is myofibrillar destruction with abnormal expression of
Tonin P., Filosto M., Tomelleri G., Savio C., Dal Pra I., Rizzuto N., Mora M., Morandi L., Vattemi G.   +8 more
core   +2 more sources

Mitochondrial dysfunction in myofibrillar myopathy [PDF]

, 2016
Myofibrillar myopathies (MFM) are characterised by focal myofibrillar destruction and accumulation of myofibrillar elements as protein aggregates. They are caused by mutations in the DES, MYOT, CRYAB, FLNC, BAG3, DNAJB6 and ZASP genes as well as other as
Rygiel, Karolina A., Barresi, Rita, Turnbull, Doug M., Vincent, Amy E., Grady, John P., Taylor, Robert W., Rocha, Mariana C., Alston, Charlotte L.   +7 more
core   +1 more source

Cardiac Involvement in an Interesting Family of Myofibrillar Myopathy [PDF]

, 2022
Background: Myofibrillar myopathy primarily affects skeletal muscles; in some cases the heart muscle is also affected. The signs and  symptoms of MFM vary among affected individuals, typically dependent on the exact genetic cause of the disease ...
B, Himabindu, R N, Mahesh, Venkataramanappa, P V, KV, Giriraja, S, Sunil   +4 more
core  

Mitochondrial dysfunction in myofibrillar myopathy [PDF]

Myofibrillar myopathies (MFM) are characterised by focal myofibrillar destruction and accumulation of myofibrillar elements as protein aggregates. They are caused by mutations in the DES, MYOT, CRYAB, FLNC, BAG3, DNAJB6 and ZASP genes as well as other as
Alston CL, Grady JP, Barresi R, Vincent AE, Taylor RW, Turnbull DM, Rocha MC, Rygiel KA   +7 more
core   +4 more sources

The N-Terminal Part of the 1A Domain of Desmin Is a Hot Spot Region for Putative Pathogenic DES Mutations Affecting Filament Assembly

Cells, 2022
Desmin is the major intermediate filament protein of all three muscle cell types, and connects different cell organelles and multi-protein complexes such as the cardiac desmosomes. Several pathogenic mutations in the DES gene cause different skeletal and
Andreas Brodehl, Stephanie Holler, Jan Gummert, Hendrik Milting   +3 more
doaj   +1 more source