Results 11 to 20 of about 1,503,695 (131)

Myosin storage myopathy associated with a heterozygous missense mutation in MYH7

Annals of Neurology, 2003
AbstractMyosin constitutes the major part of the thick filaments in the contractile apparatus of striated muscle. MYH7 encodes the slow/β‐cardiac myosin heavy chain (MyHC), which is the main MyHC isoform in slow, oxidative, type 1 muscle fibers of skeletal muscle. It is also the major MyHC isoform of cardiac ventricles.
Homa, Tajsharghi, Lars-Eric, Thornell, Christopher, Lindberg, Björn, Lindvall, Karl-Gösta, Henriksson, Anders, Oldfors   +5 more
openaire   +3 more sources

A novel myopathy with autophagic vacuoles associated with biallelic variants in CLN8. [PDF]

Brain Pathol
We describe a novel adult‐onset myopathy with autophagic vacuoles and characteristic features of ceroid lipofuscinosis associated with biallelic CLN8 variants, seizures, and muscle weakness. Autophagosomal/lysosomal deposition of curvilinear, autofluorescent material containing the mitochondrial adenosine triphosphate (ATP) synthase membrane subunit c ...
Lindgren U, Hedberg-Oldfors C, Visuttijai K, Nordström S, Goebel H, Oldfors A.   +5 more
europepmc   +2 more sources

Mutations in the beta-myosin rod cause myosin storage myopathy via multiple mechanisms. [PDF]

Proc Natl Acad Sci U S A, 2009
Myosin storage myopathy (MSM) is a congenital myopathy characterized by the presence of subsarcolemmal inclusions of myosin in the majority of type I muscle fibers, and has been linked to 4 mutations in the slow/cardiac muscle myosin, β-MyHC (MYH7). Although the majority of the >230 disease causing mutations in MYH7 are located in the globular head ...
Armel TZ, Leinwand LA.
europepmc   +4 more sources

Identifying regulatory muscle processes in infantile and adult Pompe patients using a multi‐omic and morphological approach [PDF]

Brain Pathol
The study highlights differences in the regulatory processes of skeletal muscle, such as sarcomeric contractility, lysosomal and autophagic function, metabolic activity and immune regulation, at transcriptomic and proteomic levels in infantile and adult Pompe disease.
Schaiter A, Lohanadan K, Mensch A, Hentschel A, Rosenbohm A, Kornblum C, Roth A, Procida‐Kowalski T, Krämer H, Hahn A, Höhfeld J, Fürst D, Stenzel W, van der Ven P, Roos A, Bartkuhn M, Schänzer A.   +16 more
europepmc   +2 more sources

The association of the Arg1277Gln mutation in the MYH7 gene with myosin storage myopathy in a Chinese family [PDF]

, 2020
Abstract Background Myosin storage myopathy (MSM) is caused by missense mutations in the MYH7 gene, which encodes the β-cardiac/slow skeletal muscle myosin heavy chain rod (MyHCI). MSM is an autosomal dominant/recessive myopathy characterized by subsarcolemmal accumulations of myosin in type I muscle fibers that results in weakness of the ...
Li-li Li, Riu Li, Dongyun Liu
openaire   +1 more source

Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1) [PDF]

, 2004
We previously linked Laing-type early-onset autosomal dominant distal myopathy (MPD1) to a 22-cM region of chromosome 14. One candidate gene in the region, MYH7, which is mutated in cardiomyopathy and myosin storage myopathy, codes for the myosin heavy ...
Hedera, Peter, Petty, E.M., Parry, C., de Visser, Marianne, Herrmann, Ralf, Mastaglia, Frank L., Voit, T., Bridges, Leslie, Lamont, Phillipa, Herrmann, R., Beckman, K., Meredith, Christopher, Lamont, P., DeVisser, Marianne, Bridges, L., Fabian, V., Parry, Cheryl, Dye, D.E., Durling, Hayley J., Mastaglia, F.L., Laing, N.G., Meredith, C., Voit, Thomas, Fink, J.K., Durling, H.J., Dye, Danielle E., Laing, Nigel G., Vander Graaff, Maaike M., Fabian, Vicki, de Visser, M., van de Graaff, Maaike M., Petty, Elizabeth M., Fink, John K., Duff, R.M., Hedera, P., Beckman, Kaye, Liyanage, Khema, Duff, Rachael M., van der Graaff, M.M., Liyanage, K.   +39 more
core   +1 more source

Lower Limb Radiology of Distal Myopathy due to the S60F Myotilin Mutation [PDF]

, 2009
Distal myopathies are a clinically and genetically heterogenous group of disorders in which the distal limb musculature is selectively or disproportionately affected.
Birchall, Daniel, Goldfarb, Lev, Lochmueller, Hanns, Walter, Maggie C., Chinnery, Patrick F., Reilich, Peter, McNeill, Alisdair, Schramm, Nicolai, Straub, Volker   +8 more
core   +1 more source

Identification of functional differences between recombinant human ? and ? cardiac myosin motors [PDF]

, 2012
The myosin isoform composition of the heart is dynamic in health and disease and has been shown to affect contractile velocity and force generation.
Rezavandi, Heresh, Rezavandi, H., Leslie A. Leinwand, Geeves, M., Leinwand, Leslie A., Leinwand, L., Geeves, Michael A., Marieke J. Bloemink, Heresh Rezavandi, Deacon, John C., Bloemink, Marieke J., Deacon, J., John C. Deacon, Bloemink, M., Michael A. Geeves   +14 more
core   +1 more source

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

Mechanically Regulated Secretion: How Physical Forces Instruct the Secretory Pathway and Remodel the Secretome

Advanced Science, EarlyView.
Mechanical cues, including ECM stiffness, stretch, compression, shear stress, and traction forces, remodel trafficking across the secretory pathway, from the ER and Golgi to endolysosomal compartments and the plasma membrane. The resulting secretome reshapes ECM composition and tissue mechanics, establishing feedback loops that support homeostasis or ...
Domenico Russo, Seetharaman Parashuraman, Maria Luigia Maresca, Angela Francesca Dinoi, Alessia Calcagnì, Riccardo Rizzo   +5 more
wiley   +1 more source