Agrawal PB, Greenleaf RS, Tomczak KK, Lehtokari V-L, Wallgren-Pettersson C, Wallefeld W, Laing NG, Darras BT, Maciver SK, Dormitzer PR, Beggs AH (2006) Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2. Am J Hum Genet 80:162–167. https://doi.org/10.1086/510402
Article
PubMed
PubMed Central
Google Scholar
Agrawal PB, Strickland CD, Midgett C, Morales A, Newburger DE, Poulos MA, Tomczak KK, Ryan MM, Iannaccone ST, Crawford TO, Laing NG, Beggs AH (2004) Heterogeneity of nemaline myopathy cases with skeletal muscle α-actin gene mutations. Ann Neurol 56:86–96. doi: https://doi.org/10.1002/ana.20157
Bang M-L, Li X, Littlefield R, Bremner S, Thor A, Knowlton KU, Lieber RL, Chen J (2006) Nebulin-deficient mice exhibit shorter thin filament lengths and reduced contractile function in skeletal muscle. J Muscle Res Cell Motil 173:905–916. https://doi.org/10.1083/jcb.200603119
Article
CAS
Google Scholar
Berger J, Hall TE, Currie PD (2015) Novel transgenic lines to label sarcolemma and myofibrils of the musculature. Zebrafish 12:124–125. https://doi.org/10.1089/zeb.2014.1065
Article
PubMed
Google Scholar
Daubner SC, Le T, Wang S (2011) Tyrosine hydroxylase and regulation of dopamine synthesis. Arch Biochem Biophys 508:1–12. https://doi.org/10.1016/j.abb.2010.12.017
Article
PubMed
CAS
Google Scholar
De Luca A, Pierno S, Camerino DC (2015) Taurine: the appeal of a safe amino acid for skeletal muscle disorders. J Transl Med:1–18. https://doi.org/10.1186/s12967-015-0610-1
De Luca A, Pierno S, Huxtable RJ, Falli P, Franconi F, Giotti A, Camerino DC (1992) Effects of taurine depletion on membrane electrical properties of rat skeletal muscle. Adv Exp Med Biol 315:199–205
Article
PubMed
CAS
Google Scholar
Donner K, Ollikainen M, Ridanpää M, Christen H-J, Goebel HH, de Visser M, Pelin K, Wallgren-Pettersson C (2001) Mutations in the β-tropomyosin (TPM2) gene – a rare cause of nemaline myopathy. Neuromuscul Disord 12:151–158. doi: https://doi.org/10.1016/S0960-8966(01)00252-8
Donner K, Sandbacka M, Lehtokari V-L, Wallgren-Pettersson C, Pelin K (2004) Complete genomic structure of the human nebulin gene and identification of alternatively spliced transcripts. Eur J Hum Genet 12:744–751. https://doi.org/10.1038/sj.ejhg.5201242
Article
PubMed
CAS
Google Scholar
Gajda A, Horvath E, Hortobagyi T, Gergev G, Szabo H, Farkas K, Nagy N, Szell M, Sztriha L (2013) Nemaline myopathy type 2 (NEM2): two novel mutations in the Nebulin (NEB) gene. J Child Neurol. https://doi.org/10.1177/0883073813494476
Gupta VA, Ravenscroft G, Shaheen R, Todd EJ, Swanson LC, Shiina M, Ogata K, Hsu C, Clarke NF, Darras BT, Farrar MA, Hashem A, Manton ND, Muntoni F, North KN, Sandaradura SA, Nishino I, Hayashi YK, Sewry CA, Thompson EM, Yau KS, Brownstein CA, Yu TW, Allcock RJN, Davis MR, Wallgren-Pettersson C, Matsumoto N, Alkuraya FS, Laing NG, Beggs AH (2013) Identification of KLHL41 mutations implicates BTB-Kelch-mediated ubiquitination as an alternate pathway to Myofibrillar disruption in Nemaline myopathy. Am J Hum Genet 93:1108–1117. https://doi.org/10.1016/j.ajhg.2013.10.020
Article
PubMed
PubMed Central
CAS
Google Scholar
Huxtable RJ (1992) Physiological actions of taurine. Physiol Rev 72:101–163
Article
PubMed
CAS
Google Scholar
J Jang J, Park J, Chang H, Lim K (2016) L-carnitine supplement reduces skeletal muscle atrophy induced by prolonged hindlimb suspension in rats. Appl Physiol Nutr Metab 41:1240–1247. doi: https://doi.org/10.1139/apnm-2016-0094
Johnston JJ, Kelley RI, Crawford TO, Morton DH, Agarwala R, Koch T, Schäffer AA, Francomano CA, Biesecker LG (2000) A novel nemaline myopathy in the Amish caused by a mutation in troponin T1. Am J Hum Genet 67:814–821. https://doi.org/10.1086/303089
Article
PubMed
PubMed Central
CAS
Google Scholar
Kalita D (1989) A new treatment for congenital nonprogressive nemaline myopathy. J Orthomol Med
Kley RA, Tarnopolsky MA, Vorgerd M (1996) Creatine for treating muscle disorders. https://doi.org/10.1002/14651858.CD004760.pub4
Book
Google Scholar
Koons S, Cooke R (1986) Function of creatine kinase localization in muscle contraction. Adv Exp Med Biol 194:129–137
Article
PubMed
CAS
Google Scholar
Laing NG, Wilton SD, Akkari PA, Dorosz S, Boundy K, Kneebone C, Blumbergs P, White S, Watkins H, Love DR (1995) A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy NEM1. Nat Genet 10:249–249. https://doi.org/10.1038/ng0695-249
Article
PubMed
CAS
Google Scholar
Lehtokari V-L, Greenleaf RS, DeChene ET, Kellinsalmi M, Pelin K, Laing NG, Beggs AH, Wallgren-Pettersson C (2009) The exon 55 deletion in the nebulin gene--one single founder mutation with world-wide occurrence. Neuromuscul Disord 19:179–181. https://doi.org/10.1016/j.nmd.2008.12.001
Article
PubMed
PubMed Central
Google Scholar
Li F, Buck D, De Winter J, Kolb J, Meng H, Birch C, Slater R, Escobar YN, Smith JE III, Yang L, Konhilas J, Lawlor MW, Ottenheijm C, Granzier HL (2015) Nebulin deficiency in adult muscle causes sarcomere defects and muscle-type-dependent changes in trophicity: novel insights in nemaline myopathy. Hum Mol Genet 24:5219–5233. https://doi.org/10.1093/hmg/ddv243
Article
PubMed
PubMed Central
CAS
Google Scholar
Malfatti E, Lehtokari V-L, Böhm J, De Winter JM, Schäffer U, Estournet B, Quijano-Roy S, Monges S, Lubieniecki F, Bellance R, Viou M, Madelaine A, Wu B, Taratuto A, Eymard B, Pelin K, Fardeau M, Ottenheijm CA, Wallgren-Pettersson C, Laporte J, Romero NB (2014) Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype. Acta Neuropathol Commun 2:44. https://doi.org/10.1016/j.spen.2011.10.006
McGarry JD, Brown NF (1997) The mitochondrial carnitine palmitoyltransferase system. From concept to molecular analysis. Eur J Biochem 244:1–14
Article
PubMed
CAS
Google Scholar
Messineo AM, Gineste C, Sztal TE, McNamara EL, Vilmen C, Ogier AC, Hahne D, Bendahan D, Laing NG, Bryson-Richardson RJ, Gondin J, Nowak KJ (2017) L-tyrosine supplementation is not therapeutic for skeletal muscle dysfunction in zebrafish and mouse models of dominant skeletal muscle α-actin nemaline myopathy. bioRxiv. https://doi.org/10.1101/218016
Miyatake S, Mitsuhashi S, Hayashi YK, Purevjav E, Nishikawa A, Koshimizu E, Suzuki M, Yatabe K, Tanaka Y, Ogata K, Kuru S, Shiina M, Tsurusaki Y, Nakashima M, Mizuguchi T, Miyake N, Saitsu H, Ogata K, Kawai M, Towbin J, Nonaka I, Nishino I, Matsumoto N (2017) Biallelic mutations in MYPN, encoding Myopalladin, are associated with childhood-Onset,Slowly progressive Nemaline myopathy. Am J Hum Genet 100:169–178. https://doi.org/10.1016/j.ajhg.2016.11.017
Article
PubMed
CAS
Google Scholar
Montesano A, Senesi P, Luzi L, Benedini S, Terruzzi I (2015) Research ArticlePotential therapeutic role of L-carnitine in skeletal muscle oxidative stress and atrophy conditions. Oxidative Med Cell Longev:1–13. https://doi.org/10.1155/2015/646171
Nguyen MAT, Joya JE, Kee AJ, Domazetovska A, Yang N, Hook JW, Lemckert FA, Kettle E, Valova VA, Robinson PJ, North KN, Gunning PW, Mitchell CA, Hardeman EC (2011) Hypertrophy and dietary tyrosine ameliorate the phenotypes of a mouse model of severe nemaline myopathy. Brain 134:3516–3529. https://doi.org/10.1093/brain/awr274
Article
PubMed
Google Scholar
Nowak KJK, Wattanasirichaigoon DD, Goebel HHH, Wilce MM, Pelin KK, Donner KK, Jacob RLR, Hübner CC, Oexle KK, Anderson JRJ, Verity CMC, North KNK, Iannaccone STS, Müller CRC, Nürnberg PP, Muntoni FF, Sewry CC, Hughes II, Sutphen RR, Lacson AGA, Swoboda KJK, Vigneron JJ, Wallgren-Pettersson CC, Beggs AHA, Laing NGN (1999) Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy. Nat Genet 23:208–212. https://doi.org/10.1038/13837
Ottenheijm CAC, Granzier H (2010) New insights into the structural roles of Nebulin in skeletal muscle. J Biomed Biotechnol 2010:1–6. https://doi.org/10.1091/mbc.E07-07-0690
Article
CAS
Google Scholar
Ottenheijm CAC, Buck D, de Winter JM, Ferrara C, Piroddi N, Tesi C, Jasper JR, Malik FI, Meng H, Stienen GJM, Beggs AH, Labeit S, Poggesi C, Lawlor MW, Granzier H (2013) Deleting exon 55 from the nebulin gene induces severe muscle weakness in a mouse model for nemaline myopathy. Brain 136:1718–1731. https://doi.org/10.1093/brain/awt113
Article
PubMed
PubMed Central
Google Scholar
Ottenheijm CAC, Witt CC, Stienen GJ, Labeit S, Beggs AH, Granzier H (2009) Thin filament length dysregulation contributes to muscle weakness in nemaline myopathy patients with nebulin deficiency. Hum Mol Gen 18:2359–2369. https://doi.org/10.1093/hmg/ddp168
Article
PubMed
PubMed Central
CAS
Google Scholar
Pelin KK, Hilpelä PP, Donner KK, Sewry CC, Akkari PAP, Wilton SDS, Wattanasirichaigoon DD, Bang MLM, Centner TT, Hanefeld FF, Odent SS, Fardeau MM, Urtizberea JAJ, Muntoni FF, Dubowitz VV, Beggs AHA, Laing NGN, Labeit SS, la Chapelle de AA, Wallgren-Pettersson CC (1999) Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. Proc Natl Acad Sci U S A 96:2305–2310. https://doi.org/10.2307/47056
Article
PubMed
PubMed Central
CAS
Google Scholar
Ravenscroft G, Miyatake S, Lehtokari V-L, Todd EJ, Vornanen P, Yau KS, Hayashi YK, Miyake N, Tsurusaki Y, Doi H, Saitsu H, Osaka H, Yamashita S, Ohya T, Sakamoto Y, Koshimizu E, Imamura S, Yamashita M, Ogata K, Shiina M, Bryson-Richardson RJ, Vaz R, Ceyhan O, Brownstein CA, Swanson LC, Monnot S, Romero NB, Amthor H, Kresoje N, Sivadorai P, Kiraly-Borri C, Haliloglu G, Talim B, Orhan D, Kale G, Charles AK, Fabian VA, Davis MR, Lammens M, Sewry CA, Manzur A, Muntoni F, Clarke NF, North KN, Bertini E, Nevo Y, Willichowski E, Silberg IE, Topaloglu H, Beggs AH, Allcock RJN, Nishino I, Wallgren-Pettersson C, Matsumoto N, Laing NG (2013) Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy. Am J Hum Genet 93:6–18. https://doi.org/10.1016/j.ajhg.2013.05.004
Article
PubMed
PubMed Central
CAS
Google Scholar
Ryan MM, Sy C, Rudge S, Ellaway C, Ketteridge D, Roddick LG, Iannaccone ST, Kornberg AJ, North KN (2007) Dietary L-tyrosine supplementation in Nemaline myopathy. J Child Neurol 23:609–613. https://doi.org/10.1177/0883073807309794
Article
PubMed
Google Scholar
Sambuughin N, Swietnicki W, Techtmann S, Matrosova V, Wallace T, Goldfarb L, Maynard E (2012) KBTBD13 interacts with Cullin 3 to form a functional ubiquitin ligase. Biochem Biophys Res Commun:1–7. https://doi.org/10.1016/j.bbrc.2012.04.074
Schindelin J, Arganda-Carreras I, Frise E, Kaynig V, Longair M, Pietzsch T, Preibisch S, Rueden C, Saalfeld S, Schmid B, Tinevez J-Y, White DJ, Hartenstein V, Eliceiri K, Tomancak P, Cardona A (2012) Fiji: an open-source platform for biological-image analysis. Nat Methods 9:676–682. https://doi.org/10.1038/nmeth.2019
Article
PubMed
CAS
Google Scholar
Shao A, Hathcock JN (2008) Risk assessment for the amino acids taurine, L-glutamine and L-arginine. Regul Toxicol Pharmacol 50:376–399. https://doi.org/10.1016/j.yrtph.2008.01.004
Article
PubMed
CAS
Google Scholar
Sztal TE, Ruparelia AA, Williams C, Bryson-Richardson RJ (2016) Using Touch-evoked Response and Locomotion Assays to Assess Muscle Performance and Function in Zebrafish. J Vis Exp 116:e54431.
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 (2015) Zebrafish models for nemaline myopathy reveal a spectrum of nemaline bodies contributing to reduced muscle function. Acta Neuropathol 130:389–406. https://doi.org/10.1007/s00401-015-1430-3
Article
PubMed
PubMed Central
Google Scholar
Telfer WR, Nelson DD, Waugh T, Brooks SV, Dowling JJ (2012) Neb: a zebrafish model of nemaline myopathy due to nebulin mutation. Dev Biol 5:389–396. https://doi.org/10.1242/dmm.008631
Article
CAS
Google Scholar
Terrill JR, Grounds MD, Arthur PG (2015) Taurine deficiency, synthesis and transport in the mdx mouse model for Duchenne muscular dystrophy. Int J Biochem Cell Biol 66:141–148. https://doi.org/10.1016/j.biocel.2015.07.016
Article
PubMed
CAS
Google Scholar
Terrill JR, Pinniger GJ, Graves JA, Grounds MD, Arthur PG (2016) Increasing taurine intake and taurine synthesis improves skeletal muscle function in the mdx mouse model for Duchenne muscular dystrophy. J Physiol 594:3095–3110. https://doi.org/10.1113/JP271418
Article
PubMed
PubMed Central
CAS
Google Scholar
Thompson CH, Kemp GJ, Sanderson AL, Dixon RM, Styles P, Taylor DJ, Radda GK (1996) Effect of creatine on aerobic and anaerobic metabolism in skeletal muscle in swimmers. Br J Sports Med 30:222–225
Article
PubMed
PubMed Central
CAS
Google Scholar
Wallgren-Pettersson C, Wallgren-Pettersson C, Sewry CA, Sewry CA, Nowak KJ, Nowak KJ, Laing NG, Laing NG (2011) Nemaline myopathies. YSPEN 18:230–238. https://doi.org/10.1016/j.spen.2011.10.004
Article
Google Scholar
Westerfield M (2007) The Zebrafish Book.
Google Scholar
Yuen M, Sandaradura SA, Dowling JJ, Kostyukova AS, Moroz N, Quinlan KG, Lehtokari V-L, 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 CAC, 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 (2014) Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. J Clin Invest 124:4693–4708. https://doi.org/10.1172/JCI75199
Article
PubMed
PubMed Central
CAS
Google Scholar