Results 31 to 40 of about 5,338 (235)

Elasticity of Intrinsically Disordered Nebulin Modules [PDF]

Biophysical Journal, 2011
The elasticity of native full length nebulin, demonstrated recently via atomic force microscopy with site-specific antibody pairs as force handles (Langmuir, 2009, 25, 7496), suggests that in the thin filaments, nebulin is stretched to cope with the actin length and imposes significant force and influences the functions of the underlying actins.
Jeffrey G. Forbes, Richard J. Wittebort, Alexander Grishaev, Wanxia Li Tsai, Kuan Wang   +4 more
openalex   +2 more sources

Nebulette knockout mice have normal cardiac function, but show Z-line widening and up-regulation of cardiac stress markers [PDF]

, 2015
Aims: Nebulette is a 109 kDa modular protein localized in the sarcomeric Z-line of the heart. In vitro studies have suggested a role of nebulette in stabilizing the thin filament, and missense mutations in the nebulette gene were recently shown to be ...
Bang, Marie-Louise, Carullo, Pierluigi, Chen, Ju, Dalton, Nancy D., Gu, Yusu, Li, Xiaodong, Liang, Xingqun, Mastrototaro, Giuseppina, Peterson, Kirk L., Piroddi, Nicoletta, Poggesi, Corrado, Sheikh, Farah, Tesi, Chiara   +12 more
core   +2 more sources

Exploring the importance of predicted camel NRAP exon 4 for environmental adaptation using a mouse model. [PDF]

Anim Genet
Abstract Camels possess exceptional adaptability, allowing them to withstand extreme temperatures in desert environments. They conserve water by reducing their metabolic rate and regulating body temperature. The heart of the camel plays a crucial role in this adaptation, with specific genes expressed in cardiac tissue that are essential for mammalian ...
Lee SY, Lee BY, Lim B, Uzzaman R, Jang G, Kim KS.   +5 more
europepmc   +2 more sources

Sodium dodecyl sulfate-polyacrylamide gel electrophoresis and western blotting comparisons of purified myofibrils and whole muscle preparations for evaluating titin and nebulin in postmortem bovine muscle [PDF]

, 1996
Purified myofibril (MF) and homogenized whole muscle (WM) samples were prepared from A maturity market steers. Samples were removed at 0, 1, 3, 7, 14, and 28 d postmortem.
Huff-Lonergan, Elisabeth, Huff-Lonergan, Elisabeth, Mitsuhashi, Tomiko, Parrish, Frederick, Robson, Richard   +4 more
core   +3 more sources

Fast skeletal muscle troponin activation increases force of mouse fast skeletal muscle and ameliorates weakness due to nebulin-deficiency. [PDF]

PLoS ONE, 2013
The effect of the fast skeletal muscle troponin activator, CK-2066260, on calcium-induced force development was studied in skinned fast skeletal muscle fibers from wildtype (WT) and nebulin deficient (NEB KO) mice.
Eun-Jeong Lee, Josine M De Winter, Danielle Buck, Jeffrey R Jasper, Fady I Malik, Siegfried Labeit, Coen A Ottenheijm, Henk Granzier   +7 more
doaj   +1 more source

Novel mutations in NEB cause abnormal nebulin expression and markedly impaired muscle force generation in severe nemaline myopathy

Skeletal Muscle, 2011
Background Nemaline myopathy (NM) is a congenital muscle disease associated with weakness and the presence of nemaline bodies (rods) in muscle fibers. Mutations in seven genes have been associated with NM, but the most commonly mutated gene is nebulin ...
Lawlor Michael W, Ottenheijm Coen A, Lehtokari Vilma-Lotta, Cho Kiyomi, Pelin Katarina, Wallgren-Pettersson Carina, Granzier Henk, Beggs Alan H   +7 more
doaj   +1 more source

Dilated cardiomyopathy associated with NRAP gene: a case series

Journal of Biochemical and Clinical Genetics, 2023
Background: The genetic basis of dilated cardiomyopathy (DCM) is highly diverse, with over 100 known genes and several possibilities described. Nebulin-related-anchoring protein (NRAP) is an action-binding cytoskeletal protein that has a role in the ...
Abdellh A. Names, Mohammed A. Tohary, Basel A. Hadad, Abdurahman H. Alhazmi, Hamad M. Alaksham, Hassan M. Gohal, Ghadah M. Gosadi, Ali A. Awaji, Mohammad A. Jareebi   +8 more
doaj   +1 more source

Dilated cardiomyopathy in a child with truncating mutation in NRAP gene

Journal of Biochemical and Clinical Genetics, 2018
Background: Dilated cardiomyopathy (DCM) is a progressive, lethal disorder that has heterogeneous genetic background. It has been linked to mutations in Nebulin-related-anchoring protein (NRAP) gene. NRAP expressed mainly in striated and cardiac muscles,
Hind Abdelrahman Ahmed, Saleh Al-ghamdi, Fuad Al Mutairi   +2 more
doaj   +1 more source

Clinical Manifestation of Nebulin-Associated Nemaline Myopathy

Neurology Genetics, 2023
Nemaline myopathy (NM) is a genetically heterogeneous inherited myopathy related with at least 12 genes, whereas pathogenic variants in NEB gene are the most common genetic cause. The clinical spectrum of NM caused by NEB pathogenic variants (NM-NEB) is very broad, ranging from mild to severe presentations manifesting with generalized weakness, as well
Cristiane Araujo Martins Moreno, Mariana Cunha Artilheiro, Alulin Tacio Quadros Santos Monteiro Fonseca, Clara Gontijo Camelo, Gisele Chagas de Medeiros, Fernanda Chiarion Sassi, Claudia Regina Furquim de Andrade, Sandra Donkervoort, Andre Macedo Serafim Silva, Luiz Dalfior-Junior, Osorio Lopes Abath-Neto, Umbertina Conti Reed, Carsten Bönnemann, Edmar Zanoteli   +13 more
openaire   +2 more sources

NEB mutations disrupt the super-relaxed state of myosin and remodel the muscle metabolic proteome in nemaline myopathy

Acta Neuropathologica Communications, 2022
Nemaline myopathy (NM) is one of the most common non-dystrophic genetic muscle disorders. NM is often associated with mutations in the NEB gene. Even though the exact NEB-NM pathophysiological mechanisms remain unclear, histological analyses of patients’
Natasha Ranu, Jenni Laitila, Hannah F. Dugdale, Jennifer Mariano, Justin S. Kolb, Carina Wallgren-Pettersson, Nanna Witting, John Vissing, Juan Jesus Vilchez, Chiara Fiorillo, Edmar Zanoteli, Mari Auranen, Manu Jokela, Giorgio Tasca, Kristl G. Claeys, Nicol C. Voermans, Johanna Palmio, Sanna Huovinen, Maurizio Moggio, Thomas Nyegaard Beck, Aikaterini Kontrogianni-Konstantopoulos, Henk Granzier, Julien Ochala   +22 more
doaj   +1 more source