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

Michaela Yuen, … , Kathryn N. North, Nigel F. Clarke

Published January 2, 2015
Citation Information: J Clin Invest. 2015;125(1):456-457. https://doi.org/10.1172/JCI80057.

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Citations to this article (24)

Title and authors	Publication	Year
Tirasemtiv enhances submaximal muscle tension in an Acta1:p.Asp286Gly mouse model of nemaline myopathy Galli RA, Borsboom TC, Gineste C, Brocca L, Rossi M, Hwee DT, Malik FI, Bottinelli R, Gondin J, Pellegrino MA, de Winter JM, Ottenheijm CA	The Journal of General Physiology	2024
Role of Actin-Binding Proteins in Skeletal Myogenesis Nguyen MT, Dash R, Jeong K, Lee W	Cells	2023
Pathogenic variants in TNNC2 cause congenital myopathy due to an impaired force response to calcium 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 Moore, A. Reghan Foley, Gwimoon Seo, Darren T. Hwee, Fady I Malik, Thomas Irving, Weikang Ma, Henk Granzier, Erik-Jan Kamsteeg, Kalyan Immadisetty, Peter Kekenes-Huskey, Jose Renato Pinto, Nicol Voermans, Carsten Bönnemann, Coen Ottenheijm	Journal of Clinical Investigation	2021
A Homozygous Deep Intronic Mutation Alters the Splicing of Nebulin Gene in a Patient With Nemaline Myopathy N Laflamme, B Lace, ST Setty, N Rioux, Y Labrie, A Droit, N Chrestian, S Rivest	Frontiers in neurology	2021
Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases FM Vega, S Chowdhury, B Moore, E Frise, J McCarthy, EJ Hernandez, T Wong, K James, L Guidugli, PB Agrawal, CA Genetti, CA Brownstein, AH Beggs, BS Löscher, A Franke, B Boone, SE Levy, K Õunap, S Pajusalu, M Huentelman, K Ramsey, M Naymik, V Narayanan, N Veeraraghavan, P Billings, MG Reese, M Yandell, SF Kingsmore	Genome Medicine	2021
NEM6, KBTBD13-Related Congenital Myopathy: Myopathological Analysis in 18 Dutch Patients Reveals Ring Rods Fibers, Cores, Nuclear Clumps, and Granulo-Filamentous Protein Material K Bouman, B Küsters, JM Winter, C Gillet, ES Kleef, BS Eshuis, G Brochier, A Madelaine, C Labasse, C Boulogne, BG Engelen, CA Ottenheijm, NB Romero, NC Voermans, E Malfatti	Journal of Neuropathology and Experimental Neurology	2021
Expressing a Z-disk nebulin fragment in nebulin-deficient mouse muscle: effects on muscle structure and function F Li, J Kolb, J Crudele, Z Hourani, JE Smith, JS Chamberlain, H Granzier	Skeletal Muscle	2020
Update on Congenital Myopathies in Adulthood GK Papadimas, S Xirou, E Kararizou, C Papadopoulos	International journal of molecular sciences	2020
In vivo elongation of thin filaments results in heart failure L Mi-Mi, GP Farman, RM Mayfield, J Strom, M Chu, CT Pappas, CC Gregorio, V Lionetti	PloS one	2020
Nebulin and Lmod2 are critical for specifying thin-filament length in skeletal muscle B Kiss, J Gohlke, P Tonino, Z Hourani, J Kolb, J Strom, O Alekhina, JE Smith, C Ottenheijm, C Gregorio, H Granzier	Science Advances	2020
‘Amish Nemaline Myopathy’ in 2 Italian siblings harbouring a novel homozygous mutation in Troponin-I gene A D'Amico, F Fattori, C Fiorillo, MG Paglietti, MB Testa, M Verardo, M Catteruccia, C Bruno, E Bertini	Neuromuscular Disorders	2019
Expanding the histopathological spectrum of CFL2 -related myopathies F Fattori, C Fiorillo, C Rodolico, G Tasca, M Verardo, E Bellacchio, S Pizzi, A Ciolfi, G Fagiolari, A Lupica, P Broda, M Pedemonte, M Moggio, C Bruno, M Tartaglia, E Bertini, A D'Amico	Clinical Genetics	2018
Myostatin Inhibition Using ActRIIB-mFc Does Not Produce Weight Gain or Strength in the Nebulin Conditional KO Mouse JA Tinklenberg, EM Siebers, MJ Beatka, BA Fickau, S Ayres, H Meng, L Yang, P Simpson, HL Granzier, MW Lawlor	Journal of Neuropathology and Experimental Neurology	2018
Dominantly inherited distal nemaline/cap myopathy caused by a large deletion in the nebulin gene KJ Kiiski, VL Lehtokari, AK Vihola, JM Laitila, S Huovinen, LJ Sagath, AE Evilä, AE Paetau, CA Sewry, PB Hackman, KB Pelin, C Wallgren-Pettersson, B Udd	Neuromuscular Disorders	2018
[Clinical, pathological and genetic studies of two cases of childhood-onset nemaline myopathy] Kun Huang, Yi-En Luo, Qiu-Xiang Li, Hui-Qian Duan, Fang-Fang Bi, Huan Yang, Yue-Bei Luo	Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics	2018
儿童型杆状体肌病2例临床、病理和基因研究		2018
The cardiomyopathy-associated K15N mutation in tropomyosin alters actin filament pointed end dynamics M Colpan, T Ly, S Grover, D Tolkatchev, AS Kostyukova	Archives of Biochemistry and Biophysics	2017
Myopathology in times of modern imaging H Jungbluth	Neuropathology and Applied Neurobiology	2017
Clinical and histological findings in ACTA1 related nemaline myopathy: case series and review of literature CA Moreno, OA Neto, S Donkervoort, Y Hu, UC Reed, AS Oliveira, C Bönnemann, E Zanoteli	Pediatric Neurology	2017
Current and future therapeutic approaches to the congenital myopathies H Jungbluth, J Ochala, S Treves, M Gautel	Seminars in Cell & Developmental Biology	2016
Nemaline myopathies: State of the art E Malfatti, NB Romero	Revue Neurologique	2016
Mild clinical presentation in KLHL40-related nemaline myopathy (NEM 8) AM Seferian, E Malfatti, C Bosson, L Pelletier, J Taytard, V Forin, T Gidaro, E Gargaun, P Carlier, J Fauré, NB Romero, J Rendu, L Servais	Neuromuscular Disorders	2016
The N-terminal tropomyosin- and actin-binding sites are important for leiomodin 2s function T Ly, N Moroz, CT Pappas, SM Novak, D Tolkatchev, D Wooldridge, RM Mayfield, G Helms, CC Gregorio, AS Kostyukova	Molecular biology of the cell	2016
Modulating myosin restores muscle function in a mouse model of nemaline myopathy: Therapy for Nemaline Myopathy J Lindqvist, Y Levy, A Pati-Alam, EC Hardeman, P Gregorevic, J Ochala	Annals of Neurology	2016

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

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

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