Results 71 to 80 of about 745 (121)

NEBULIN, A HELICAL ACTIN-BINDING PROTEIN

, 1994
Nebulin, a giant protein (molecular mass 800 kDa) specific for the skeletal muscle of vertebrates, has been suggested to be involved in the length regulation of the thin filament as a 'molecular ruler'.
PFUHL M, WINDER SJ, PASTORE A, PASTORE, ANNALISA   +3 more
core  

Interaction of nebulin SH3 domain with titin PEVK and myopalladin: implications for the signaling and assembly role of titin and nebulin [PDF]

, 2002
Skeletal muscle nebulin is thought to determine thin filament length and regulate actomyosin interaction in a calcium/calmodulin or S100 sensitive manner.
Ma, Kan, Kan Ma, Wang, Kuan, Kuan Wang
core   +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

A Rare Case of Mild Nemaline Myopathy in an 11-year-old Male Athlete: Challenges in Diagnosis and Physical Activity Management

Indian Journal of Physical Medicine & Rehabilitation
Nemaline myopathy (NM) is a rare congenital neuromuscular disorder characterised by muscle weakness and the presence of nemaline bodies in muscle fibres.
Sagolsem Adarsh Singh, Akoijam Joy Singh
doaj   +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

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

Immunocytochemical study of nebulin in Duchenne muscular dystrophy.

, 1988
We used antibodies to nebulin in immunocytochemical studies. In normal muscle, nebulin was localized at the I band. The protein was also present in most fibers from all 15 Duchenne muscular dystrophy (DMD) patients studied, including patients who seemed ...
Prelle A, Betto R, Di Mauro S, Schon EA, Zeviani M, Miranda AF, Salviati G, Bonilla E, Rowland LP   +8 more
core  

Microscopic analysis of the elastic properties of nebulin in skeletal myofibrils [PDF]

, 1995
The elastic properties of nebulin were studied by measuring the elasticity of single skeletal myofibrils, from which the portion of the thin filament located at the I band had been selectively removed by treatment with plasma gelsolin under rigor ...
Ishiwata, S., Anazawa, T., Yasuda, K.
core   +1 more source

New Insights into the Structural Roles of Nebulin in Skeletal Muscle [PDF]

, 2010
One important feature of muscle structure and function that has remained relatively obscure is the mechanism that regulates thin filament length. Filament length is an important aspect of muscle function as force production is proportional to the amount ...
Granzier, H., Henk Granzier, Coen A. C. Ottenheijm, Ottenheijm, C.A.C.   +3 more
core   +2 more sources

Analysis of the Nebulin-Related Anchoring Protein Gene (N-RAP) SNP Polymorphism (C/T) in Slovak Warmblood Horse by PCR-RFLP Method

Scientific Papers Animal Science and Biotechnologies, 2023
The show-jumping is a important breeding goal in many breeds of warmblood horses. By using of genome-wide association studies (GWAS) were discovered a several genes which could be identified as candidate genes for physical performance in show jumping of ...
Anna Trakovická, Michal Gábor, Martina Miluchová, Tomáš Minarovič, Danka Štastná   +4 more
doaj