Anderson SL, Ekstein J, Donnelly MC, Keefe EM, Toto NR, LeVoci LA et al (2004) Nemaline myopathy in the Ashkenazi Jewish population is caused by a deletion in the nebulin gene. Hum Genet 115:185–190

Article  CAS  PubMed  Google Scholar 

Bang M-L, Gregorio C, Labeit S (2002) Molecular dissection of the interaction of desmin with the C-terminal region of nebulin. J Struct Biol 137:119–127

Article  CAS  PubMed  Google Scholar 

Bang M-L, Li X, Littlefield R, Bremner S, Thor A, Knowlton KU et al (2006) Nebulin-deficient mice exhibit shorter thin filament lengths and reduced contractile function in skeletal muscle. J Cell Biol 173:905–916

Article  CAS  PubMed  PubMed Central  Google Scholar 

Brenner B (1986) The cross-bridge cycle in muscle. Mechanical, biochemical, and structural studies on single skinned rabbit psoas fibers to characterize cross-bridge kinetics in muscle for correlation with the actomyosin-ATPase in solution. Controversial issues in cardiac pathophysiology: Erwin Riesch Symposium, July 12/13, 1985. Springer, City, pp 1–15

Brogna S, Wen J (2009) Nonsense-mediated mRNA decay (NMD) mechanisms. Nat Struct Mol Biol 16:107–113

Article  CAS  PubMed  Google Scholar 

Campbell KB, Chandra M, Kirkpatrick RD, Slinker BK, Hunter WC (2004) Interpreting cardiac muscle force-length dynamics using a novel functional model. Am J Physiol Heart and Circ Physiol 286:H1535–H1545

Article  CAS  Google Scholar 

Ceyhan-Birsoy O, Agrawal PB, Hidalgo C, Schmitz-Abe K, DeChene ET, Swanson LC et al (2013) Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. Neurology 81:1205–1214

Article  CAS  PubMed  PubMed Central  Google Scholar 

Chandra M, Mamidi R, Ford S, Hidalgo C, Witt C, Ottenheijm C et al (2009) Nebulin alters cross-bridge cycling kinetics and increases thin filament activation: a novel mechanism for increasing tension and reducing tension cost. J Biol Chem 284:30889–30896

Article  CAS  PubMed  PubMed Central  Google Scholar 

Chandra V, Gollapudi SK, Chandra M (2015) Rat cardiac troponin T mutation (F72L)-mediated impact on thin filament cooperativity is divergently modulated by α-and β-myosin heavy chain isoforms. Am J of Physiol Heart Circ Physiol 309:H1260–H1270

Article  CAS  Google Scholar 

Conover GM, Henderson SN, Gregorio CC (2009) A myopathy-linked desmin mutation perturbs striated muscle actin filament architecture. Mol Biol Cell 20:834–845

Article  CAS  PubMed  PubMed Central  Google Scholar 

Danecek P, Bonfield JK, Liddle J, Marshall J, Ohan V, Pollard MO, Whitwham A, Keane T, McCarthy SA, Davies RM (2021) Twelve years of SAMtools and BCFtools. Gigascience 10: giab008

de Sousa AR, Penalva LO, Marcotte EM, Vogel C (2009) Global signatures of protein and mRNA expression levels. Mol BioSyst 5:1512–1526

Google Scholar 

de Winter JM, Buck D, Hidalgo C, Jasper JR, Malik FI, Clarke NF et al (2013) Troponin activator augments muscle force in nemaline myopathy patients with nebulin mutations. J Med Genet 50:383–392

Article  PubMed  Google Scholar 

de Winter JM, Joureau B, Sequeira V, Clarke NF, van der Velden J, Stienen GJ et al (2015) Effect of levosimendan on the contractility of muscle fibers from nemaline myopathy patients with mutations in the nebulin gene. Skeletal muscle 5:1–10

Article  Google Scholar 

de Winter JM, Molenaar JP, Yuen M, van der Pijl R, Shen S, Conijn S et al (2020) KBTBD13 is an actin-binding protein that modulates muscle kinetics. J Clin Invest 130:754–767. https://doi.org/10.1172/JCI124000

Article  PubMed  PubMed Central  Google Scholar 

de Winter JM, Ottenheijm CAC (2017) Sarcomere dysfunction in nemaline myopathy. J Neuromuscul Dis 4:99–113. https://doi.org/10.3233/JND-160200

Article  PubMed  PubMed Central  Google Scholar 

Dobin A, Davis CA, Schlesinger F, Drenkow J, Zaleski C, Jha S et al (2013) STAR: ultrafast universal RNA-seq aligner. Bioinformatics 29:15–21

Article  CAS  PubMed  Google Scholar 

Donkervoort S, Papadaki M, de Winter JM, Neu MB, Kirschner J, Bolduc V et al (2015) TPM3 deletions cause a hypercontractile congenital muscle stiffness phenotype. Ann Neurol 78:982–994. https://doi.org/10.1002/ana.24535

Article  CAS  PubMed  PubMed Central  Google Scholar 

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

Article  CAS  PubMed  Google Scholar 

Evans JM, Cox ML, Huska J, Li F, Gaitero L, Guo LT et al (2016) Exome sequencing reveals a nebulin nonsense mutation in a dog model of nemaline myopathy. Mamm Genome 27:495–502

Article  CAS  PubMed  PubMed Central  Google Scholar 

Fabiato A, Fabiato F (1979) Calculator programs for computing the composition of the solutions containing multiple metals and ligands used for experiments in skinned muscle cells. J Physiol (Paris) 75:463–505

CAS  PubMed  Google Scholar 

Fomin A, Gärtner A, Cyganek L, Tiburcy M, Tuleta I, Wellers L et al (2021) Truncated titin proteins and titin haploinsufficiency are targets for functional recovery in human cardiomyopathy due to TTN mutations. Science translational medicine 13:eabd3079

Article  CAS  PubMed  Google Scholar 

Ford SJ, Chandra M, Mamidi R, Dong W, Campbell KB (2010) Model representation of the nonlinear step response in cardiac muscle. J Gen Physiol 136:159–177

Article  CAS  PubMed  PubMed Central  Google Scholar 

Fukuda N, Wu Y, Farman G, Irving TC, Granzier H (2005) Titin-based modulation of active tension and interfilament lattice spacing in skinned rat cardiac muscle. Pflugers Arch 449:449–457

Article  CAS  PubMed  Google Scholar 

Gohlke J, Tonino P, Lindqvist J, Smith JE III, Granzier H (2020) The number of Z-repeats and super-repeats in nebulin greatly varies across vertebrates and scales with animal size. J Gen Physiol 153:e202012783

Article  PubMed Central  Google Scholar 

Gollapudi SK, Reda SM, Chandra M (2017) Omecamtiv mecarbil abolishes length-mediated increase in guinea pig cardiac myofiber Ca2+ sensitivity. Biophys J 113:880–888

Article  CAS  PubMed  PubMed Central  Google Scholar 

Granzier HL, Akster HA, Ter Keurs HE (1991) Effect of thin filament length on the force-sarcomere length relation of skeletal muscle. Am J Physiol 260:C1060-1070. https://doi.org/10.1152/ajpcell.1991.260.5.C1060

Article  CAS  PubMed  Google Scholar 

Hinson JT, Chopra A, Nafissi N, Polacheck WJ, Benson CC, Swist S et al (2015) Titin mutations in iPS cells define sarcomere insufficiency as a cause of dilated cardiomyopathy. Science 349:982–986

Article  CAS  PubMed  PubMed Central  Google Scholar 

Hoek TA, Khuperkar D, Lindeboom RG, Sonneveld S, Verhagen BM, Boersma S et al (2019) Single-molecule imaging uncovers rules governing nonsense-mediated mRNA decay. Mol Cell 75(324–339):e311

Google Scholar 

Kaplinsky E, Mallarkey G (2018) Cardiac myosin activators for heart failure therapy: focus on omecamtiv mecarbil. Drugs in context 7:212518

Article  PubMed  PubMed Central  Google Scholar 

Kapustin Y, Chan E, Sarkar R, Wong F, Vorechovsky I, Winston RM et al (2011) Cryptic splice sites and split genes. Nucleic Acids Res 39:5837–5844

Article  CAS  PubMed  PubMed Central  Google Scholar 

Kiiski K, Lehtokari V-L, Löytynoja A, Ahlstén L, Laitila J, Wallgren-Pettersson C et al (2016) A recurrent copy number variation of the NEB triplicate region: only revealed by the targeted nemaline myopathy CGH array. Eur J Hum Genet 24:574–580

Article  CAS  PubMed  Google Scholar 

Kiiski KJ, Lehtokari V-L, Vihola AK, Laitila JM, Huovinen S, Sagath LJ et al (2019) Dominantly inherited distal nemaline/cap myopathy caused by a large deletion in the nebulin gene. Neuromuscul Disord 29:97–107

Article  PubMed  Google Scholar 

Kim Y-g, Ha C, Shin S, Park J-h, Jang J-H, Kim J-W (2023) Enrichment of titin-truncating variants in exon 327 in dilated cardiomyopathy and its relevance to reduced nonsense-mediated mRNA decay efficiency. Front Genet 13:1087359

Article  PubMed  PubMed Central  Google Scholar 

Kiss B, Gohlke J, Tonino P, Hourani Z, Kolb J, Strom J et al (2020) Nebulin and Lmod2 are critical for specifying thin-filament length in skeletal muscle. Sci Adv 6:eabc1992

Article  CAS  PubMed  PubMed Central  Google Scholar 

Labeit S, Ottenheijm CA, Granzier H (2011) Nebulin, a major player in muscle health and disease. FASEB J 25:822–829

Article  CAS  PubMed  PubMed Central  Google Scholar 

Lahmers S, Wu Y, Call DR, Labeit S, Granzier H (2004) Developmental control of titin isoform expression and passive stiffness in fetal and neonatal myocardium. Circ Res 94:505–513

Article  CAS  PubMed