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Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis

Autor: Gang, Qiang, Bettencourt, Conceição, Machado, Pedro M, Brady, Stefen, Holton, Janice L, Pittman, Alan M, Hughes, Deborah, Healy, Estelle, Parton, Matthew, Hilton-Jones, David, Shieh, Perry B, Needham, Merrilee, Liang, Christina, Zanoteli, Edmar, de Camargo, Leonardo Valente, De Paepe, Boel, De Bleecker, Jan, Shaibani, Aziz, Ripolone, Michela, Violano, Raffaella, Moggio, Maurizio, Barohn, Richard J, Dimachkie, Mazen M, Mora, Marina, Mantegazza, Renato, Zanotti, Simona, Singleton, Andrew B, Hanna, Michael G, Houlden, Henry, Chinoy, Hector, Lamb, Janine, Lilleker, James

Publikováno v: Gang, Q, Bettencourt, C, Machado, P M, Brady, S, Holton, J L, Pittman, A M, Hughes, D, Healy, E, Parton, M, Hilton-Jones, D, Shieh, P B, Needham, M, Liang, C, Zanoteli, E, de Camargo, L V, De Paepe, B, De Bleecker, J, Shaibani, A, Ripolone, M, Violano, R, Moggio, M, Barohn, R J, Dimachkie, M M, Mora, M, Mantegazza, R, Zanotti, S, Singleton, A B, Hanna, M G, Houlden, H, Muscle Study Group and the International IBM Genetics Consortium, Chinoy, H, Lamb, J & Lilleker, J 2016, ' Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis ', Neurobiology of Aging, vol. 47, pp. 218.e1-218.e9 . https://doi.org/10.1016/j.neurobiolaging.2016.07.024

Genetic factors have been suggested to be involved in the pathogenesis of sporadic inclusion body myositis (sIBM). Sequestosome 1 (SQSTM1) and valosin-containing protein (VCP) are 2 key genes associated with several neurodegenerative disorders but ha

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3818::fed1d8ef27fc0a88cf0c25ae8b7261ab
https://www.research.manchester.ac.uk/portal/en/publications/rare-variants-in-sqstm1-and-vcp-genes-and-risk-of-sporadic-inclusion-body-myositis(3011295f-f59f-427e-8111-903ebef83f98).html

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ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy.

Autor: Böhm, Johann, Bulla, Monica, Urquhart, Jill E., Malfatti, Edoardo, Williams, Simon G., O'Sullivan, James, Szlauer, Anastazja, Koch, Catherine, Baranello, Giovanni, Mora, Marina, Ripolone, Michela, Violano, Raffaella, Moggio, Maurizio, Kingston, Helen, Dawson, Timothy, DeGoede, Christian G., Nixon, John, Boland, Anne, Deleuze, Jean‐François, Romero, Norma

Publikováno v: Human Mutation; Apr2017, Vol. 38 Issue 4, p426-438, 13p