Myopathy associated LDB3 mutation causes Z-disc disassembly and protein aggregation through PKCα and TSC2-mTOR downregulation

Pathak et al. identify LDB3, a striated muscle PDZ-LIM protein, as a signaling adaptor in a major mechanosensor assembly through interactions with filamin C, HSPA8, and PKCα. When LDB3 is mutated, PKCα and TSC2-mTOR mediated homeostasis is impaired, leading to protein aggregation myopathy.

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Autores principales:	Pankaj Pathak, Yotam Blech-Hermoni, Kalpana Subedi, Jessica Mpamugo, Charissa Obeng-Nyarko, Rachel Ohman, Ilda Molloy, Malcolm Kates, Jessica Hale, Stacey Stauffer, Shyam K. Sharan, Ami Mankodi
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Biology (General) QH301-705.5
Acceso en línea:	https://doaj.org/article/d4e302a88eb748a8be9622e9386d26e5
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spelling	oai:doaj.org-article:d4e302a88eb748a8be9622e9386d26e52021-12-02T13:17:41ZMyopathy associated LDB3 mutation causes Z-disc disassembly and protein aggregation through PKCα and TSC2-mTOR downregulation10.1038/s42003-021-01864-12399-3642https://doaj.org/article/d4e302a88eb748a8be9622e9386d26e52021-03-01T00:00:00Zhttps://doi.org/10.1038/s42003-021-01864-1https://doaj.org/toc/2399-3642Pathak et al. identify LDB3, a striated muscle PDZ-LIM protein, as a signaling adaptor in a major mechanosensor assembly through interactions with filamin C, HSPA8, and PKCα. When LDB3 is mutated, PKCα and TSC2-mTOR mediated homeostasis is impaired, leading to protein aggregation myopathy.Pankaj PathakYotam Blech-HermoniKalpana SubediJessica MpamugoCharissa Obeng-NyarkoRachel OhmanIlda MolloyMalcolm KatesJessica HaleStacey StaufferShyam K. SharanAmi MankodiNature PortfolioarticleBiology (General)QH301-705.5ENCommunications Biology, Vol 4, Iss 1, Pp 1-15 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Biology (General) QH301-705.5
spellingShingle	Biology (General) QH301-705.5 Pankaj Pathak Yotam Blech-Hermoni Kalpana Subedi Jessica Mpamugo Charissa Obeng-Nyarko Rachel Ohman Ilda Molloy Malcolm Kates Jessica Hale Stacey Stauffer Shyam K. Sharan Ami Mankodi Myopathy associated LDB3 mutation causes Z-disc disassembly and protein aggregation through PKCα and TSC2-mTOR downregulation
description	Pathak et al. identify LDB3, a striated muscle PDZ-LIM protein, as a signaling adaptor in a major mechanosensor assembly through interactions with filamin C, HSPA8, and PKCα. When LDB3 is mutated, PKCα and TSC2-mTOR mediated homeostasis is impaired, leading to protein aggregation myopathy.
format	article
author	Pankaj Pathak Yotam Blech-Hermoni Kalpana Subedi Jessica Mpamugo Charissa Obeng-Nyarko Rachel Ohman Ilda Molloy Malcolm Kates Jessica Hale Stacey Stauffer Shyam K. Sharan Ami Mankodi
author_facet	Pankaj Pathak Yotam Blech-Hermoni Kalpana Subedi Jessica Mpamugo Charissa Obeng-Nyarko Rachel Ohman Ilda Molloy Malcolm Kates Jessica Hale Stacey Stauffer Shyam K. Sharan Ami Mankodi
author_sort	Pankaj Pathak
title	Myopathy associated LDB3 mutation causes Z-disc disassembly and protein aggregation through PKCα and TSC2-mTOR downregulation
title_short	Myopathy associated LDB3 mutation causes Z-disc disassembly and protein aggregation through PKCα and TSC2-mTOR downregulation
title_full	Myopathy associated LDB3 mutation causes Z-disc disassembly and protein aggregation through PKCα and TSC2-mTOR downregulation
title_fullStr	Myopathy associated LDB3 mutation causes Z-disc disassembly and protein aggregation through PKCα and TSC2-mTOR downregulation
title_full_unstemmed	Myopathy associated LDB3 mutation causes Z-disc disassembly and protein aggregation through PKCα and TSC2-mTOR downregulation
title_sort	myopathy associated ldb3 mutation causes z-disc disassembly and protein aggregation through pkcα and tsc2-mtor downregulation
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/d4e302a88eb748a8be9622e9386d26e5
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Myopathy associated LDB3 mutation causes Z-disc disassembly and protein aggregation through PKCα and TSC2-mTOR downregulation

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