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Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.
Yuen M, Sandaradura SA, Dowling JJ, Kostyukova AS, Moroz N, Quinlan KG, Lehtokari VL, Ravenscroft G, Todd EJ, Ceyhan-Birsoy O, Gokhin DS, Maluenda J, Lek M, Nolent F, Pappas CT, Novak SM, D'Amico A, Malfatti E, Thomas BP, Gabriel SB, Gupta N, Daly MJ, Ilkovski B, Houweling PJ, Davidson AE, Swanson LC, Brownstein CA, Gupta VA, Medne L, Shannon P, Martin N, Bick DP, Flisberg A, Holmberg E, Van den Bergh P, Lapunzina P, Waddell LB, Sloboda DD, Bertini E, Chitayat D, Telfer WR, Laquerrière A, Gregorio CC, Ottenheijm CA, Bönnemann CG, Pelin K, Beggs AH, Hayashi YK, Romero NB, Laing NG, Nishino I, Wallgren-Pettersson C, Melki J, Fowler VM, MacArthur DG, North KN, Clarke NF. Yuen M, et al. J Clin Invest. 2014 Nov;124(11):4693-708. doi: 10.1172/JCI75199. Epub 2014 Sep 24. J Clin Invest. 2014. PMID: 25250574 Free PMC article.
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.
Yuen M, Sandaradura SA, Dowling JJ, Kostyukova AS, Moroz N, Quinlan KG, Lehtokari VL, Ravenscroft G, Todd EJ, Ceyhan-Birsoy O, Gokhin DS, Maluenda J, Lek M, Nolent F, Pappas CT, Novak SM, D'Amico A, Malfatti E, Thomas BP, Gabriel SB, Gupta N, Daly MJ, Ilkovski B, Houweling PJ, Davidson AE, Swanson LC, Brownstein CA, Gupta VA, Medne L, Shannon P, Martin N, Bick DP, Flisberg A, Holmberg E, Van den Bergh P, Lapunzina P, Waddell LB, Sloboda DD, Bertini E, Chitayat D, Telfer WR, Laquerrière A, Gregorio CC, Ottenheijm CA, Bönnemann CG, Pelin K, Beggs AH, Hayashi YK, Romero NB, Laing NG, Nishino I, Wallgren-Pettersson C, Melki J, Fowler VM, MacArthur DG, North KN, Clarke NF. Yuen M, et al. J Clin Invest. 2015 Jan;125(1):456-7. doi: 10.1172/JCI80057. Epub 2015 Jan 2. J Clin Invest. 2015. PMID: 25654555 Free PMC article. No abstract available.
Zebrafish models for nemaline myopathy reveal a spectrum of nemaline bodies contributing to reduced muscle function.
Sztal TE, Zhao M, Williams C, Oorschot V, Parslow AC, Giousoh A, Yuen M, Hall TE, Costin A, Ramm G, Bird PI, Busch-Nentwich EM, Stemple DL, Currie PD, Cooper ST, Laing NG, Nowak KJ, Bryson-Richardson RJ. Sztal TE, et al. Among authors: yuen m. Acta Neuropathol. 2015 Sep;130(3):389-406. doi: 10.1007/s00401-015-1430-3. Epub 2015 May 1. Acta Neuropathol. 2015. PMID: 25931053 Free PMC article.
Mutation-specific effects on thin filament length in thin filament myopathy.
Winter JM, Joureau B, Lee EJ, Kiss B, Yuen M, Gupta VA, Pappas CT, Gregorio CC, Stienen GJ, Edvardson S, Wallgren-Pettersson C, Lehtokari VL, Pelin K, Malfatti E, Romero NB, Engelen BG, Voermans NC, Donkervoort S, Bönnemann CG, Clarke NF, Beggs AH, Granzier H, Ottenheijm CA. Winter JM, et al. Among authors: yuen m. Ann Neurol. 2016 Jun;79(6):959-69. doi: 10.1002/ana.24654. Epub 2016 Apr 30. Ann Neurol. 2016. PMID: 27074222 Free PMC article.
Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome.
O'Grady GL, Verschuuren C, Yuen M, Webster R, Menezes M, Fock JM, Pride N, Best HA, Benavides Damm T, Turner C, Lek M, Engel AG, North KN, Clarke NF, MacArthur DG, Kamsteeg EJ, Cooper ST. O'Grady GL, et al. Among authors: yuen m. Neurology. 2016 Oct 4;87(14):1442-1448. doi: 10.1212/WNL.0000000000003179. Epub 2016 Sep 2. Neurology. 2016. PMID: 27590285 Free PMC article.
Dysfunctional sarcomere contractility contributes to muscle weakness in ACTA1-related nemaline myopathy (NEM3).
Joureau B, de Winter JM, Conijn S, Bogaards SJP, Kovacevic I, Kalganov A, Persson M, Lindqvist J, Stienen GJM, Irving TC, Ma W, Yuen M, Clarke NF, Rassier DE, Malfatti E, Romero NB, Beggs AH, Ottenheijm CAC. Joureau B, et al. Among authors: yuen m. Ann Neurol. 2018 Feb;83(2):269-282. doi: 10.1002/ana.25144. Epub 2018 Feb 6. Ann Neurol. 2018. PMID: 29328520 Free PMC article.
KBTBD13 is an actin-binding protein that modulates muscle kinetics.
de Winter JM, Molenaar JP, Yuen M, van der Pijl R, Shen S, Conijn S, van de Locht M, Willigenburg M, Bogaards SJ, van Kleef ES, Lassche S, Persson M, Rassier DE, Sztal TE, Ruparelia AA, Oorschot V, Ramm G, Hall TE, Xiong Z, Johnson CN, Li F, Kiss B, Lozano-Vidal N, Boon RA, Marabita M, Nogara L, Blaauw B, Rodenburg RJ, Küsters B, Doorduin J, Beggs AH, Granzier H, Campbell K, Ma W, Irving T, Malfatti E, Romero NB, Bryson-Richardson RJ, van Engelen BG, Voermans NC, Ottenheijm CA. de Winter JM, et al. Among authors: yuen m. J Clin Invest. 2020 Feb 3;130(2):754-767. doi: 10.1172/JCI124000. J Clin Invest. 2020. PMID: 31671076 Free PMC article.
Nebulin: big protein with big responsibilities.
Yuen M, Ottenheijm CAC. Yuen M, et al. J Muscle Res Cell Motil. 2020 Mar;41(1):103-124. doi: 10.1007/s10974-019-09565-3. Epub 2020 Jan 25. J Muscle Res Cell Motil. 2020. PMID: 31982973 Free PMC article. Review.
950 results