Skeletal muscle myopathy mutations at the actin tropomyosin interface that cause gain- or loss-of-function

Autor: Steven B. Marston, Massimiliano Memo

Publikováno v: Journal of Muscle Research and Cell Motility. 34:165-169

It is well known that the regulation of muscle contraction relies on the ability of tropomyosin to switch between different positions on the actin filament, but it is still not well understood which amino acids are directly involved in the different

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40102864108655f0a7b09f21725b49e5
https://doi.org/10.1007/s10974-013-9344-y

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

Nemaline myopathy with stiffness and hypertonia associated with an ACTA1 mutation

Autor: Francesco Muntoni, Adnan Y. Manzur, S. Lillis, G. Ravenscroft, John C. Sparrow, Ros Quinlivan, Massimiliano Memo, Steve Marston, Rakesh Kumar Jain, Nigel G. Laing, Waney Squier, Kristen J. Nowak, Sandeep Jayawant, Heinz Jungbluth, Caroline Sewry

Publikováno v: Neurology. 78:1100-1103

Nemaline myopathy, known to be caused by mutations in 7 genes, including skeletal muscle α-actin ( ACTA1 ),1 is characterized by muscle weakness, hypotonia, and nemaline rods in muscle biopsy. Here we report a patient with nemaline rods but the oppo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d508394f63ceacea4199f1a714b9ab9
https://doi.org/10.1212/wnl.0b013e31824e8ebe

Familial dilated cardiomyopathy mutations uncouple troponin I phosphorylation from changes in myofibrillar Ca²⁺ sensitivity

Autor: Massimiliano, Memo, Man-Ching, Leung, Douglas G, Ward, Cristobal, dos Remedios, Sachio, Morimoto, Lianfeng, Zhang, Gianina, Ravenscroft, Elyshia, McNamara, Kristen J, Nowak, Steven B, Marston, Andrew E, Messer

Publikováno v: Cardiovascular research. 99(1)

The pure form of familial dilated cardiomyopathy (DCM) is mainly caused by mutations in genes encoding sarcomeric proteins. Previous measurements using recombinant proteins suggested that DCM mutations in thin filament proteins decreased myofibrillar

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::e6520652a41450133b45c3b279a3a7b2
https://pubmed.ncbi.nlm.nih.gov/23539503

Abnormal actin binding of aberrant β-tropomyosins is a molecular cause of muscle weakness in TPM2-related nemaline and cap myopathy

Autor: Steven B. Marston, M. Marttila, Kati Donner, Massimiliano Memo, Elina Lemola, Carina Wallgren-Pettersson, Mikaela Grönholm, William Wallefeld, Nigel G. Laing

Publikováno v: The Biochemical journal. 442(1)

NM (nemaline myopathy) is a rare genetic muscle disorder defined on the basis of muscle weakness and the presence of structural abnormalities in the muscle fibres, i.e. nemaline bodies. The related disorder cap myopathy is defined by cap-like structu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8f87013645366f4b7e4013a6458e8cc
https://pubmed.ncbi.nlm.nih.gov/22084935