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Literature DB >> 25654555

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.

Michaela Yuen, Sarah A Sandaradura, James J Dowling, Alla S Kostyukova, Natalia Moroz, Kate G Quinlan, Vilma-Lotta Lehtokari, Gianina Ravenscroft, Emily J Todd, Ozge Ceyhan-Birsoy, David S Gokhin, Jérome Maluenda, Monkol Lek, Flora Nolent, Christopher T Pappas, Stefanie M Novak, Adele D'Amico, Edoardo Malfatti, Brett P Thomas, Stacey B Gabriel, Namrata Gupta, Mark J Daly, Biljana Ilkovski, Peter J Houweling, Ann E Davidson, Lindsay C Swanson, Catherine A Brownstein, Vandana A Gupta, Livija Medne, Patrick Shannon, Nicole Martin, David P Bick, Anders Flisberg, Eva Holmberg, Peter Van den Bergh, Pablo Lapunzina, Leigh B Waddell, Darcée D Sloboda, Enrico Bertini, David Chitayat, William R Telfer, Annie Laquerrière, Carol C Gregorio, Coen A C Ottenheijm, Carsten G Bönnemann, Katarina Pelin, Alan H Beggs, Yukiko K Hayashi, Norma B Romero, Nigel G Laing, Ichizo Nishino, Carina Wallgren-Pettersson, Judith Melki, Velia M Fowler, Daniel G MacArthur, Kathryn N North, Nigel F Clarke.

Abstract

Entities: Disease Gene

Year: 2015 PMID： 25654555 PMCID： PMC4382254 DOI： 10.1172/JCI80057

Source DB: PubMed Journal: J Clin Invest ISSN： 0021-9738 Impact factor: 14.808

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11 in total

1. The cardiomyopathy-associated K15N mutation in tropomyosin alters actin filament pointed end dynamics.

Authors: Mert Colpan; Thu Ly; Samantha Grover; Dmitri Tolkatchev; Alla S Kostyukova
Journal: Arch Biochem Biophys Date: 2017-07-18 Impact factor: 4.013

2. Myostatin Inhibition Using ActRIIB-mFc Does Not Produce Weight Gain or Strength in the Nebulin Conditional KO Mouse.

Authors: Jennifer A Tinklenberg; Emily M Siebers; Margaret J Beatka; Brittany A Fickau; Samuel Ayres; Hui Meng; Lin Yang; Pippa Simpson; Henk L Granzier; Michael W Lawlor
Journal: J Neuropathol Exp Neurol Date: 2019-02-01 Impact factor: 3.685

3. [Clinical, pathological and genetic studies of two cases of childhood-onset nemaline myopathy].

Authors: Kun Huang; Yi-En Luo; Qiu-Xiang Li; Hui-Qian Duan; Fang-Fang Bi; Huan Yang; Yue-Bei Luo
Journal: Zhongguo Dang Dai Er Ke Za Zhi Date: 2018-10

4. Pathogenic variants in TNNC2 cause congenital myopathy due to an impaired force response to calcium.

Authors: Martijn van de Locht; Sandra Donkervoort; Josine M de Winter; Stefan Conijn; Leon Begthel; Benno Kusters; Payam Mohassel; Ying Hu; Livija Medne; Colin Quinn; Steven A Moore; A Reghan Foley; Gwimoon Seo; Darren T Hwee; Fady I Malik; Thomas Irving; Weikang Ma; Henk L Granzier; Erik-Jan Kamsteeg; Kalyan Immadisetty; Peter Kekenes-Huskey; José R Pinto; Nicol Voermans; Carsten G Bönnemann; Coen Ac Ottenheijm
Journal: J Clin Invest Date: 2021-05-03 Impact factor: 14.808

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.

1. The cardiomyopathy-associated K15N mutation in tropomyosin alters actin filament pointed end dynamics.

2. Myostatin Inhibition Using ActRIIB-mFc Does Not Produce Weight Gain or Strength in the Nebulin Conditional KO Mouse.

3. [Clinical, pathological and genetic studies of two cases of childhood-onset nemaline myopathy].

4. Pathogenic variants in TNNC2 cause congenital myopathy due to an impaired force response to calcium.

5. The N-terminal tropomyosin- and actin-binding sites are important for leiomodin 2's function.

6. Modulating myosin restores muscle function in a mouse model of nemaline myopathy.

Review 7. Update on Congenital Myopathies in Adulthood.

8. Expressing a Z-disk nebulin fragment in nebulin-deficient mouse muscle: effects on muscle structure and function.

9. In vivo elongation of thin filaments results in heart failure.

10. Nebulin and Lmod2 are critical for specifying thin-filament length in skeletal muscle.