Results 101 to 110 of about 2,672 (202)

The desmin coil 1B mutation K190A impairs nebulin Z-disc assembly and destabilizes actin thin filaments

, 2011
Desmin intermediate filaments intimately surround myofibrils in vertebrate muscle forming a mesh-like filament network. Desmin attaches to sarcomeres through its high-affinity association with nebulin, a giant F-actin binding protein that co-extends ...
Gloria M. Conover, Carol C. Gregorio
core   +1 more source

Congenital myopathy with hanging big toe due to homozygous myopalladin (MYPN) mutation

Skeletal Muscle, 2019
Background Myopalladin (MYPN) is a component of the sarcomere that tethers nebulin in skeletal muscle and nebulette in cardiac muscle to alpha-actinin at the Z lines.
Luciano Merlini, Patrizia Sabatelli, Manuela Antoniel, Valeria Carinci, Fabio Niro, Giuseppe Monetti, Annalaura Torella, Teresa Giugliano, Cesare Faldini, Vincenzo Nigro   +9 more
doaj   +1 more source

Generation of a NRAP-overexpressing mutant from a human iPSC line

Stem Cell Research
Cardiomyopathies are a major contributor to cardiovascular mortality and are frequently linked to abnormalities in intercalated discs, which coordinate mechanical and electrical signaling between cardiomyocytes.
Janice Raabe, Sigrid Fuchs, Christa Augustin, Alexandra Hammerschmidt, Elisabeth Krämer, Ellen Orthey, Elisabeth Ehler, Friederike Cuello   +7 more
doaj   +1 more source

Nanomechanics of Full-Length Nebulin: An Elastic Strain Gauge in the Skeletal Muscle Sarcomere

, 2016
Nebulin, a family of giant modular proteins (MW 700−800 kDa), acts as a F-actin thin filament ruler and calcium-linked regulator of actomyosin interaction.
Vamsi K. Yadavalli (1727779), Kuan Wang (571816), Jeffrey G. Forbes (2365120)   +2 more
core   +1 more source

Elucidating the Mechanisms by Which Nebulin Regulates Thin Filament Assembly in Skeletal Muscle

, 2009
Proper contraction of striated muscle requires the assembly of actin filaments with precise spacing, polarity and lengths, however the mechanisms by which the cell accomplishes this remain unclear.
Pappas, Christopher Theodore
core  

Troponin activator augments muscle force in nemaline myopathy patients with nebulin mutations

, 2013
Background: Nemaline myopathy-the most common non-dystrophic congenital myopathy-is caused by mutations in thin filament genes, of which the nebulin gene is the most frequently affected one.
Malik, F.I., Stienen, G.J.M., Jasper, J.R., Lawlor, M.W., Beggs, A.H., Granzier, H., de Winter, J.M., Hidalgo, C., Clarke, N.F., Buck, D., Ottenheijm, C.A.C.   +10 more
core   +1 more source

Titin and Nebulin in Thick and Thin Filament Length Regulation

, 2017
In this review we discuss the history and the current state of ideas related to the mechanism of size regulation of the thick (myosin) and thin (actin) filaments in vertebrate striated muscles. Various hypotheses have been considered during of more than half century of research, recently mostly involving titin and nebulin acting as templates or ...
Tskhovrebova, L, Trinick, J
openaire   +3 more sources

The role of titin and nebulin in myofibril assembly in cultured embryonic chick muscle cells

, 1988
The purpose of this study was to examine the role of the two high molecular weight proteins, titin and nebulin, in skeletal muscle myofibrillogenesis.
Kurpakus, Michelle
core   +1 more source

Genetic Diagnosis and Individualized Intervention Through Next-generation Sequencing in Pre-symptomatic, Atypical, or Mildly Symptomatic Cases

Tokyo Women's Medical University Journal
Background: Conventional diagnoses of neuromuscular disorders (NMD) are insufficient for patients with absent or atypical symptoms. However, genetic diagnosis provides individualized insights for treatment and management.
Kaori Aibara, Yuri Kitamura, Reiko Arakawa, Eri Kondo, Shinichi Hosokawa, Saeko Yoshizawa, Atsuko Nishikawa, Ichizo Nishino, Mitsumasa Fukuda, Eiichi Ishii, Mariko Eguchi, Kayoko Saito   +11 more
doaj   +1 more source

Nebulin and N-WASP Cooperate to Cause IGF-1–Induced Sarcomeric Actin Filament Formation

, 2010
Muscle Building The signaling mechanisms involved in actin filament formation for myofibril formation, which is required for growth factor-induced muscle maturation and hypertrophy, remain unclear ...
Takashi Karatsu, Takeshi Endo, Souichi Kurita, Haruko Watanabe-Takano, Sumiko Kimura, Kazunori Takano, Tadaomi Takenawa, Kazuya Tsujita, Shiro Suetsugu   +8 more
core   +1 more source