Results 11 to 20 of about 745 (121)

Nebulin and titin expression in Duchenne muscular dystrophy appears normal [PDF]

, 1987
Monoclonal antibodies which recognize different epitopes on either titin or nebulin show normal staining patterns on frozen sections of three muscle biopsies of Duchenne muscular dystrophy (DMD). Gel electrophoresis and immunoblotting performed on two of
Nave, R., Romano, Valentino, Romano, V., Romeo, G., Klaus Weber, Mary Osborn, Attila Bardosi, Fürst, Dieter, Weber, Klaus, Bardosi, Attila, Rüdiger Nave, Osborn, M., Nicoletta Archidiacono, Fürst, D., Giovanni Romeo, Archidiacono, N., Ferro, M., Ferro, Mariangela, Archidiacono, Nicoletta, Nave, Rüdiger, Bardosi, A., Weber, K., Valentino Romano, Osborn, Mary, Romeo, Giovanni, Dieter Fürst, Mariangela Ferro   +26 more
core   +2 more sources

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 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

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

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

Structure of giant muscle proteins

Frontiers in Physiology, 2013
Giant muscle proteins (e.g. titin, nebulin, and obscurin) play a seminal role in muscle elasticity, stretch response, and sarcomeric organization. Each giant protein consists of multiple tandem structural domains, usually arranged in a modular fashion ...
Nathan Thompson Wright, Logan C. Meyer
doaj   +1 more source

Structures from intact myofibrils reveal mechanism of thin filament regulation through nebulin [PDF]

, 2022
In skeletal muscle, nebulin stabilizes and regulates the length of thin filaments, but the underlying mechanism remains nebulous. In this work, we used cryo-electron tomography and subtomogram averaging to reveal structures of native nebulin bound to ...
Gautel, Mathias, Pospich, Sabrina, Wang, Zhexin, Kho, Ay Lin, Kho, A., Wagner, T., Grange, Michael, Grange, M., Raunser, S., Wagner, Thorsten, Wang, Z., Pospich, S., Raunser, Stefan, Gautel, M.   +13 more
core   +1 more source

neb: a zebrafish model of nemaline myopathy due to nebulin mutation

Disease Models & Mechanisms, 2012
SUMMARY Nemaline myopathy is one of the most common and severe non-dystrophic muscle diseases of childhood. Patients typically present in infancy with hypotonia, weakness, delayed motor development, and bulbar and respiratory difficulties.
William R. Telfer, Darcee D. Nelson, Trent Waugh, Susan V. Brooks, James J. Dowling   +4 more
doaj   +1 more source

Variants in Nebulin (NEB) Are Linked to the Development of Familial Primary Angle Closure Glaucoma in Basset Hounds. [PDF]

PLoS ONE, 2015
Several dog breeds are susceptible to developing primary angle closure glaucoma (PACG), which suggests a genetic basis for the disease. We have identified a four-generation Basset Hound pedigree with characteristic autosomal recessive PACG that closely ...
Dina F Ahram, Sinisa D Grozdanic, Helga Kecova, Arjen Henkes, Rob W J Collin, Markus H Kuehn   +5 more
doaj   +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   +5 more sources