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Items: 1 to 20 of 129

1.

Skeletal and cardiac α-actin isoforms differently modulate myosin cross-bridge formation and myofibre force production.

Ochala J, Iwamoto H, Ravenscroft G, Laing NG, Nowak KJ.

Hum Mol Genet. 2013 Nov 1;22(21):4398-404. doi: 10.1093/hmg/ddt289. Epub 2013 Jun 19.

PMID:
23784376
2.

Nemaline myopathy-related skeletal muscle α-actin (ACTA1) mutation, Asp286Gly, prevents proper strong myosin binding and triggers muscle weakness.

Ochala J, Ravenscroft G, Laing NG, Nowak KJ.

PLoS One. 2012;7(9):e45923. doi: 10.1371/journal.pone.0045923. Epub 2012 Sep 20.

3.

Rescue of skeletal muscle alpha-actin-null mice by cardiac (fetal) alpha-actin.

Nowak KJ, Ravenscroft G, Jackaman C, Filipovska A, Davies SM, Lim EM, Squire SE, Potter AC, Baker E, Clément S, Sewry CA, Fabian V, Crawford K, Lessard JL, Griffiths LM, Papadimitriou JM, Shen Y, Morahan G, Bakker AJ, Davies KE, Laing NG.

J Cell Biol. 2009 Jun 1;185(5):903-15. doi: 10.1083/jcb.200812132. Epub 2009 May 25.

4.

Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene.

Ilkovski B, Cooper ST, Nowak K, Ryan MM, Yang N, Schnell C, Durling HJ, Roddick LG, Wilkinson I, Kornberg AJ, Collins KJ, Wallace G, Gunning P, Hardeman EC, Laing NG, North KN.

Am J Hum Genet. 2001 Jun;68(6):1333-43. Epub 2001 Apr 27.

5.

Multimodal MRI and (31)P-MRS investigations of the ACTA1(Asp286Gly) mouse model of nemaline myopathy provide evidence of impaired in vivo muscle function, altered muscle structure and disturbed energy metabolism.

Gineste C, Duhamel G, Le Fur Y, Vilmen C, Cozzone PJ, Nowak KJ, Bendahan D, Gondin J.

PLoS One. 2013 Aug 20;8(8):e72294. doi: 10.1371/journal.pone.0072294. eCollection 2013.

6.

Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations.

Agrawal PB, Strickland CD, Midgett C, Morales A, Newburger DE, Poulos MA, Tomczak KK, Ryan MM, Iannaccone ST, Crawford TO, Laing NG, Beggs AH.

Ann Neurol. 2004 Jul;56(1):86-96.

PMID:
15236405
7.

Defining alpha-skeletal and alpha-cardiac actin expression in human heart and skeletal muscle explains the absence of cardiac involvement in ACTA1 nemaline myopathy.

Ilkovski B, Clement S, Sewry C, North KN, Cooper ST.

Neuromuscul Disord. 2005 Dec;15(12):829-35. Epub 2005 Nov 8.

PMID:
16288873
8.

Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy.

Nowak KJ, Wattanasirichaigoon D, Goebel HH, Wilce M, Pelin K, Donner K, Jacob RL, Hübner C, Oexle K, Anderson JR, Verity CM, North KN, Iannaccone ST, Müller CR, Nürnberg P, Muntoni F, Sewry C, Hughes I, Sutphen R, Lacson AG, Swoboda KJ, Vigneron J, Wallgren-Pettersson C, Beggs AH, Laing NG.

Nat Genet. 1999 Oct;23(2):208-12.

PMID:
10508519
9.

Actin nemaline myopathy mouse reproduces disease, suggests other actin disease phenotypes and provides cautionary note on muscle transgene expression.

Ravenscroft G, Jackaman C, Sewry CA, McNamara E, Squire SE, Potter AC, Papadimitriou J, Griffiths LM, Bakker AJ, Davies KE, Laing NG, Nowak KJ.

PLoS One. 2011;6(12):e28699. doi: 10.1371/journal.pone.0028699. Epub 2011 Dec 9.

10.

Skeletal muscle α-actin diseases (actinopathies): pathology and mechanisms.

Nowak KJ, Ravenscroft G, Laing NG.

Acta Neuropathol. 2013 Jan;125(1):19-32. doi: 10.1007/s00401-012-1019-z. Epub 2012 Jul 24. Review.

PMID:
22825594
11.

Sexually dimorphic myofilament function in a mouse model of nemaline myopathy.

Lindqvist J, Hardeman EC, Ochala J.

Arch Biochem Biophys. 2014 Dec 15;564:37-42. doi: 10.1016/j.abb.2014.09.011. Epub 2014 Sep 24.

PMID:
25261348
12.

A myopathy-related actin mutation increases contractile function.

Lindqvist J, Pénisson-Besnier I, Iwamoto H, Li M, Yagi N, Ochala J.

Acta Neuropathol. 2012 May;123(5):739-46. doi: 10.1007/s00401-012-0962-z. Epub 2012 Feb 23.

PMID:
22358459
13.

Distinct underlying mechanisms of limb and respiratory muscle fiber weaknesses in nemaline myopathy.

Lindqvist J, Cheng AJ, Renaud G, Hardeman EC, Ochala J.

J Neuropathol Exp Neurol. 2013 Jun;72(6):472-81. doi: 10.1097/NEN.0b013e318293b1cc.

PMID:
23656990
14.

Nemaline myopathy caused by absence of alpha-skeletal muscle actin.

Nowak KJ, Sewry CA, Navarro C, Squier W, Reina C, Ricoy JR, Jayawant SS, Childs AM, Dobbie JA, Appleton RE, Mountford RC, Walker KR, Clement S, Barois A, Muntoni F, Romero NB, Laing NG.

Ann Neurol. 2007 Feb;61(2):175-84.

PMID:
17187373
15.

Functional effects of nemaline myopathy mutations on human skeletal alpha-actin.

Miller BM, Trybus KM.

J Biol Chem. 2008 Jul 11;283(28):19379-88. doi: 10.1074/jbc.M801963200. Epub 2008 May 12.

16.

Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms.

Ilkovski B, Nowak KJ, Domazetovska A, Maxwell AL, Clement S, Davies KE, Laing NG, North KN, Cooper ST.

Hum Mol Genet. 2004 Aug 15;13(16):1727-43. Epub 2004 Jun 15.

PMID:
15198992
17.

Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (ACTA1) gene.

Jungbluth H, Sewry CA, Brown SC, Nowak KJ, Laing NG, Wallgren-Pettersson C, Pelin K, Manzur AY, Mercuri E, Dubowitz V, Muntoni F.

Neuromuscul Disord. 2001 Jan;11(1):35-40.

PMID:
11166164
18.

Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation.

D'Amico A, Graziano C, Pacileo G, Petrini S, Nowak KJ, Boldrini R, Jacques A, Feng JJ, Porfirio B, Sewry CA, Santorelli FM, Limongelli G, Bertini E, Laing N, Marston SB.

Neuromuscul Disord. 2006 Oct;16(9-10):548-52. Epub 2006 Sep 1.

PMID:
16945537
19.

Cardiac α-actin over-expression therapy in dominant ACTA1 disease.

Ravenscroft G, McNamara E, Griffiths LM, Papadimitriou JM, Hardeman EC, Bakker AJ, Davies KE, Laing NG, Nowak KJ.

Hum Mol Genet. 2013 Oct 1;22(19):3987-97. doi: 10.1093/hmg/ddt252. Epub 2013 Jun 4.

PMID:
23736297
20.

Muscle weakness in TPM3-myopathy is due to reduced Ca2+-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres.

Yuen M, Cooper ST, Marston SB, Nowak KJ, McNamara E, Mokbel N, Ilkovski B, Ravenscroft G, Rendu J, de Winter JM, Klinge L, Beggs AH, North KN, Ottenheijm CA, Clarke NF.

Hum Mol Genet. 2015 Nov 15;24(22):6278-92. doi: 10.1093/hmg/ddv334. Epub 2015 Aug 24.

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