Results 81 to 90 of about 2,672 (202)

Fiber Type‐Specific Proteomic Alterations in R349P Desminopathy Mice

Muscle &Nerve, Volume 71, Issue 6, Page 1113-1121, June 2025.
ABSTRACT Introduction/Aims Desminopathies are a group of rare human myopathies and cardiomyopathies caused by pathogenic variants of the desmin gene. Here, we analyzed the effects of the R349P mutant desmin on the proteomic profiles of individual fiber types of murine skeletal muscle.
Britta Eggers, Karin Schork, Michael Turewicz, Katalin Barkovits, Martin Eisenacher, Rolf Schröder, Christoph Stephan Clemen, Katrin Marcus   +7 more
wiley   +1 more source

Nachweis und Charakterisierung von Nebulin und nebulin-verwandten Proteinen in der Muskulatur von Vertebraten und Invertebraten

, 2001
Fock U. Nachweis und Charakterisierung von Nebulin und nebulin-verwandten Proteinen in der Muskulatur von Vertebraten und Invertebraten.
Fock, Ulrike
core  

Deciphering the Effect of Nemaline-Myopathy Nebulin Mutations on Desmin Binding [PDF]

, 2013
Our research focuses on the role of intermediate proteins in human disease. Desmin, a major intermediate filament protein in muscle cells, is organized into a central coiledcoil alpha helical domain flanked by globular head and tail domains.
Jacobs, Krystyna M
core  

Pathogenic TNNT1 variants are associated with aberrant thin filament compliance and myofibre hyper‐contractility

The Journal of Physiology, Volume 603, Issue 12, Page 3533-3550, 15 June 2025.
Abstract figure legend Graphical representation of the main results. The cartoon indicates that, in the presence of TNNT1 variants, the thin filament is more compliant, and more easily activated leading to higher myofibre Ca2+ sensitivity and cellular hyper‐contractility.
Jenni Laitila, Christopher T. A. Lewis, Anthony L. Hessel, Guido Primiano, Aurelio Hernandez‐Lain, Chiara Fiorillo, Michael W. Lawlor, Coen A. C. Ottenheijm, Heinz Jungbluth, Ka Fu Man, Arianna Fornili, Julien Ochala   +11 more
wiley   +1 more source

Each Actin Subunit Has Three Nebulin Binding Sites Implications for Steric Blocking

, 2002
Nebulin is a giant protein that spans most of the muscle thin filament [1, 2]. Mutations in nebulin result in myopathies and dystrophies [3, 4].
Egelman, Edward H., Natalya Lukoyanova, Margaret S. VanLoock, Albina Orlova, Edward H. Egelman, Orlova, Albina, Lukoyanova, Natalya, Galkin, Vitold E., Wang, Kuan, VanLoock, Margaret S., Vitold E. Galkin, Kuan Wang   +11 more
core   +1 more source

Nebulin, a major player in muscle health and disease

The FASEB Journal, 2010
Nebulin is a giant 600‐ to 900‐kDa filamentous protein that is an integral component of the skeletal muscle thin filament. Its functions have remained largely nebulous because of its large size and the difficulty in extracting nebulin in a native state from muscle.
Labeit, S., Ottenheijm, C.A.C., Granzier, H.   +2 more
openaire   +3 more sources

EccDNA Analysis Provides Novel Insights Into the Molecular Mechanism of Firmness of Fish Fillet

Food Science &Nutrition, Volume 13, Issue 5, May 2025.
We provide a new and basic eccDNA database for the molecular regulation of muscle firmness in grass carp. The eccDNA abundance in crisp grass carp was significantly higher than that in ordinary grass carp. EccDNAs likely play important roles in the muscle‐hardening of crisp grass carp.
Kai Zhang, Jianchao Chen, Haobin He, Binwei Duan, Canbei You, Zehua Hu, Linhao Cai, Xi Xiang, Rishen Liang   +8 more
wiley   +1 more source

Homozygous truncating mutation in NRAP gene identified by whole exome sequencing in a patient with dilated cardiomyopathy

Scientific Reports, 2017
The genetic background of dilated cardiomyopathy is highly heterogeneous, with close to 100 known genes and a number of candidates described to date.
Grażyna T. Truszkowska, Zofia T. Bilińska, Angelika Muchowicz, Agnieszka Pollak, Anna Biernacka, Katarzyna Kozar-Kamińska, Piotr Stawiński, Piotr Gasperowicz, Joanna Kosińska, Tomasz Zieliński, Rafał Płoski   +10 more
doaj   +1 more source

Distinct molecular features of FLNC mutations, associated with different clinical phenotypes

Cytoskeleton, Volume 82, Issue 3, Page 158-174, March 2025.
Abstract Filamin С is a key an actin‐binding protein of muscle cells playing a critical role in maintaining structural integrity and sarcomere organization. FLNC mutations contribute to various types of cardiomyopathies and myopathies through potentially different molecular mechanisms.
Ekaterina S. Klimenko, Anastasia K. Zaytseva, Margarita Yu. Sorokina, Kseniia I. Perepelina, Nataliia L. Rodina, Ekaterina G. Nikitina, Kseniia S. Sukhareva, Aleksandr A. Khudiakov, Tatyana L. Vershinina, Alexey S. Muravyev, Evgeny N. Mikhaylov, Tatyana M. Pervunina, Elena S. Vasichkina, Anna A. Kostareva   +13 more
wiley   +1 more source

In vivo and in vitro investigations of heterozygous nebulin knock-out mice disclose a mild skeletal muscle phenotype

, 2013
Nemaline myopathy is the most common congenital skeletal muscle disease, and mutations in the nebulin gene account for 50% of all cases. Recent studies suggest that the disease severity might be related to the nebulin expression levels.
Gretz, N., Jubeau, M., Vilmen, C., Granzier, H., Witt, C.C., Gineste, C., Le Fur, Y., Kohl, C., Stienen, G.J.M., Brohm, K., Gondin, J., de Winter, J.M., Pecchi, E., Bendahan, D., Labeit, S., Ottenheijm, C.A.C., Giannesini, B., Cozzone, P.J.   +17 more
core   +1 more source