Results 61 to 70 of about 2,672 (202)

An Isogenic Human Myoblast Cell Model for Cystinosis Myopathy Reveals Alteration of Key Myogenic Regulatory Proteins

Journal of Cachexia, Sarcopenia and Muscle, Volume 16, Issue 6, December 2025.
ABSTRACT Background Cystinosis is a rare multisystem, autosomal recessive disease caused by dysfunction or loss of cystinosin (CTNS), which results in lysosomal cystine accumulation, primarily affecting the kidneys. Advances in renal transplantation, cysteamine treatment and improved medical care have increased life expectancy, revealing additional ...
Louise Medaer, Roger Mora, Zhuoheng Zhou, Nefele Giarratana, Laura Yedigaryan, Rita La Rovere, Elena Levtchenko, Vincent Mouly, Els Verhoeyen, Sebastiaan Eeltink, Achim Treumann, Tim Vervliet, Maurilio Sampaolesi, Rik Gijsbers   +13 more
wiley   +1 more source

A Nebulin Ruler Does Not Dictate Thin Filament Lengths

, 2009
To generate force, striated muscle requires overlap between uniform-length actin and myosin filaments. The hypothesis that a nebulin ruler mechanism specifies thin filament lengths by targeting where tropomodulin (Tmod) caps the slow-growing, pointed end
Littlefield, Kimberly P., Fowler, Velia M., Castillo, Angelica, Littlefield, Ryan S., Nowak, Roberta   +4 more
core   +1 more source

Omecamtiv mecarbil lowers the contractile deficit in a mouse model of nebulin-based nemaline myopathy.

PLoS ONE, 2019
Nemaline myopathy (NEM) is a congenital neuromuscular disorder primarily caused by nebulin gene (NEB) mutations. NEM is characterized by muscle weakness for which currently no treatments exist.
Johan Lindqvist, Eun-Jeong Lee, Esmat Karimi, Justin Kolb, Henk Granzier   +4 more
doaj   +1 more source

Nebulin is a thin filament protein of the cardiac muscle of the agnathans

, 2002
Fock U, Hinssen H. Nebulin is a thin filament protein of the cardiac muscle of the agnathans. JOURNAL OF MUSCLE RESEARCH AND CELL MOTILITY. 2002;23(3):205-213.Nebulin is an integral protein of skeletal muscle thin laments and probably acts as a ruler for
Fock, U, Hinssen, Horst
core   +1 more source

Formation and inhibition mechanism of novel angiotensin I converting enzyme inhibitory peptides from Chouguiyu

Frontiers in Nutrition, 2022
Angiotensin I converting enzyme (ACE) inhibitory peptides from fermented foods exhibit great potential to alleviate hypertension. In this study, the peptide extract from Chouguiyu exhibited a good inhibition effect on ACE, and the inhibition rate was ...
Daqiao Yang, Daqiao Yang, Daqiao Yang, Laihao Li, Laihao Li, Laihao Li, Chunsheng Li, Chunsheng Li, Chunsheng Li, Shengjun Chen, Shengjun Chen, Shengjun Chen, Jianchao Deng, Jianchao Deng, Jianchao Deng, Shaoling Yang, Shaoling Yang, Shaoling Yang   +17 more
doaj   +1 more source

OXPHOS complex deficiency in congenital myopathy: A systematic review

European Journal of Clinical Investigation, Volume 55, Issue 11, November 2025.
This systematic review assessed oxidative phosphorylation (OXPHOS) complex dysfunction in genetically confirmed congenital myopathies (CM). Among 5841 studies screened, 23 publications, comprising 45 CM cases, met the inclusion criteria. OXPHOS dysfunction was identified in 78% of cases, particularly where enzymology was performed, with RYR1 most ...
Megan J. du Preez, Maryke Schoonen, Monray E. Williams, Michelle Bisschoff, Francois H. van der Westhuizen   +4 more
wiley   +1 more source

Expression and Purification of Large Nebulin Fragments and Their Interaction with Actin

, 1998
cDNA clones encoding mouse skeletal muscle nebulin were expressed in Escherichia coli as thioredoxin fusion proteins and purified in the presence of 6M urea. These fragments, called 7a and 8c, contain 28 and 19 of the weakly repeating ∼35-residue nebulin
Zhang, Jian Q., Weisberg, Andrea, Horowits, Robert   +2 more
core   +1 more source

Nebulin interactions with actin and tropomyosin are altered by disease-causing mutations [PDF]

, 2014
Background: Nemaline myopathy (NM) is a rare genetic muscle disorder, but one of the most common among the congenital myopathies. NM is caused by mutations in at least nine genes: Nebulin (NEB), alpha-actin (ACTA1), alpha-tropomyosin (TPM3), beta ...
Marttila, Minttu, Lemola, Elina, Laitila, Jenni, Pelin, Katarina, Minttu Marttila, Nowak, Kristen J., Wallgren-Pettersson, Carina, Mikaela Grönholm, Gronholm, Mikaela, Elina Lemola, Kristen J Nowak, Carina Wallgren-Pettersson, Jenni Laitila, Katarina Pelin, Mubashir, Hanif, Mubashir Hanif   +15 more
core   +1 more source

The Novel MuRF2 Target SNX5 Regulates PKA Activity Through Stabilization of RI‐α and Controls Myogenic Differentiation

Journal of Cachexia, Sarcopenia and Muscle, Volume 16, Issue 5, October 2025.
ABSTRACT Background Muscle RING finger (MuRF) proteins are striated muscle‐specific E3 ubiquitin ligases essential for muscle homeostasis. Whereas MuRF1 is well known for its role in muscle atrophy, MuRF2 and MuRF3 contribute to microtubule stabilization, influencing muscle differentiation and function.
Ning Li, Jida Hamati, Yi Li, Björn Brinschwitz, Mohamed Ghait, Elisa Martin, Dörte Lodka, Elke Hammer, Britta Fielitz, Uwe Völker, Gunnar Dittmar, Thomas Sommer, Friedrich C. Luft, Jens Fielitz   +13 more
wiley   +1 more source

An integrated diagnosis strategy for congenital myopathies. [PDF]

PLoS ONE, 2013
Congenital myopathies are severe muscle disorders affecting adults as well as children in all populations. The diagnosis of congenital myopathies is constrained by strong clinical and genetic heterogeneity. Moreover, the majority of patients present with
Johann Böhm, Nasim Vasli, Edoardo Malfatti, Stéphanie Le Gras, Claire Feger, Bernard Jost, Nicole Monnier, Julie Brocard, Hatice Karasoy, Marion Gérard, Maggie C Walter, Peter Reilich, Valérie Biancalana, Christine Kretz, Nadia Messaddeq, Isabelle Marty, Joël Lunardi, Norma B Romero, Jocelyn Laporte   +18 more
doaj   +1 more source