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

Autor: Sandra T. Cooper, Biljana Ilkovski, Sophie Clément, Kathryn N. North, Nigel G. Laing, Kristen J. Nowak, Ana Domazetovska, Adam Maxwell, Kay E. Davies

Publikováno v: Human Molecular Genetics, Vol. 13, No 16 (2004) pp. 1727-1743

We have studied a cohort of nemaline myopathy (NM) patients with mutations in the muscle alpha-skeletal actin gene (ACTA1). Immunoblot analysis of patient muscle demonstrates increased gamma-filamin, myotilin, desmin and alpha-actinin in many NM pati

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::460df143422778a3e6970b2f2d12e2df
http://doc.rero.ch/record/291276/files/ddh185.pdf

K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity

Autor: Mikaela Grönholm, M. Marttila, Biljana Ilkovski, Nigel F. Clarke, Elyshia McNamara, Dominique Menard, Massimiliano Memo, Nicole Monnier, Elina Lemola, Carina Wallgren-Pettersson, Jill Trewhella, Jens Reimann, Steve Marston, Coen A.C. Ottenheijm, Andoni Echaniz-Laguna, Nancy Mokbel, Nan Yang, Cy M. Jeffries, Vilma-Lotta Lehtokari, Michaela Kreissl, Mariz Vainzof, Kristen J. Nowak, Kathryn N. North, Nigel G. Laing, Pascale Marcorelles, Gianina Ravenscroft

Publikováno v: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Brain, 136, 494-507. Oxford University Press
Mokbel, N, Ilkovski, B, Kreissl, M, Memo, M, Jeffries, C M, Marttila, M, Lehtokari, V L, Lemola, E, Gronholm, M, Yang, N, Menard, D, Marcorelles, P, Echaniz-Laguna, A, Reimann, J, Vainzof, M, Monnier, N, Ravenscroft, G, McNamara, E, Nowak, K J, Laing, N G, Wallgren-Pettersson, C, Trewhella, J, Marston, S, Ottenheijm, C A C, North, K N & Clarke, N F 2013, ' K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity ', Brain, vol. 136, pp. 494-507 . https://doi.org/10.1093/brain/aws348

Mutations in the TPM2 gene, which encodes β-tropomyosin, are an established cause of several congenital skeletal myopathies and distal arthrogryposis. We have identified a TPM2 mutation, p.K7del, in five unrelated families with nemaline myopathy and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b7704e195f0af12a6a2d45c0076eb53
https://doi.org/10.1093/brain/aws348

Dominant Mutations in KBTBD13, a Member of the BTB/Kelch Family, Cause Nemaline Myopathy with Cores

Autor: Kyle S. Yau, Nyamkhishig Sambuughin, Baziel G.M. van Engelen, Montse Olivé, Martin Lammens, Munkhuu Bayarsaikhan, Biljana Ilkovski, Frank L. Mastaglia, Rachael M. Duff, Shajia Lu, Vicki Fabian, Kristen J. Nowak, Phillipa J. Lamont, Padma Sivadorai, Gianina Ravenscroft, Kathryn N. North, Nigel G. Laing, Hannie Kremer, Mark R. Davis, Laura Gonzalez-Mera, Lev G. Goldfarb

Publikováno v: American Journal of Human Genetics, 87, 842-7
American Journal of Human Genetics, 87, 6, pp. 842-7
American Journal of Human Genetics, 87, 842-842
American Journal of Human Genetics, 87, pp. 842-842

Contains fulltext : 88858.pdf (Publisher’s version ) (Closed access) We identified a member of the BTB/Kelch protein family that is mutated in nemaline myopathy type 6 (NEM6), an autosomal-dominant neuromuscular disorder characterized by the presen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0cf0effc68612d605081cf859a93c706
https://doi.org/10.1016/j.ajhg.2010.10.020

Nemaline Myopathy with Exclusively Intranuclear Rods and a Novel Mutation in ACTA1 (Q139H)

Autor: Biljana Ilkovski, Anne Koy, Joachim Weis, Thomas Voit, Ertan Mayatepek, E. Neuen-Jacob, Kathryn N. North, Nigel G. Laing

Publikováno v: Neuropediatrics. 38:282-286

Nemaline myopathies (NM) are a rare group of muscle disorders, but represent one of the most common forms of congenital myopathy. The clinical picture ranges from severe muscular hypotonia often leading to death during childhood to mild forms with lo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd2f520375463e813ebd6a73556afcbb
https://doi.org/10.1055/s-2008-1065356

The pathogenesis ofACTA1-related congenital fiber type disproportion

Autor: Sandra T. Cooper, Steven B. Marston, Phillip J. Robinson, Juan-Juan Feng, Kathryn N. North, Ikuya Nonaka, Nigel F. Clarke, Biljana Ilkovski, Valentina A. Valova

Publikováno v: Annals of Neurology. 61:552-561

Objective Mutations in ACTA1 have been associated with a variety of changes in muscle histology that likely result from fundamental differences in the way that ACTA1 mutations disrupt muscle function. Recently, we reported three patients with congeni

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::91249e1a7ecf7f9c7830af50378d1d5d
https://doi.org/10.1002/ana.21112