Dimerization deficiency of enigmatic retinitis pigmentosa-linked rhodopsin mutants

Retinitis pigmentosa is often caused by mutations that affect the activity or transport of rhodopsin, but some mutations cause disease even though an apparently functional protein is produced. Here the authors show that three such enigmatic mutants retain scramblase activity but are unable to dimeri...

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Autores principales:	Birgit Ploier, Lydia N. Caro, Takefumi Morizumi, Kalpana Pandey, Jillian N. Pearring, Michael A. Goren, Silvia C. Finnemann, Johannes Graumann, Vadim Y. Arshavsky, Jeremy S. Dittman, Oliver P. Ernst, Anant K. Menon
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2016
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/94c82e6657484b44baee46822dc7c91b
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spelling	oai:doaj.org-article:94c82e6657484b44baee46822dc7c91b2021-12-02T14:40:10ZDimerization deficiency of enigmatic retinitis pigmentosa-linked rhodopsin mutants10.1038/ncomms128322041-1723https://doaj.org/article/94c82e6657484b44baee46822dc7c91b2016-10-01T00:00:00Zhttps://doi.org/10.1038/ncomms12832https://doaj.org/toc/2041-1723Retinitis pigmentosa is often caused by mutations that affect the activity or transport of rhodopsin, but some mutations cause disease even though an apparently functional protein is produced. Here the authors show that three such enigmatic mutants retain scramblase activity but are unable to dimerize.Birgit PloierLydia N. CaroTakefumi MorizumiKalpana PandeyJillian N. PearringMichael A. GorenSilvia C. FinnemannJohannes GraumannVadim Y. ArshavskyJeremy S. DittmanOliver P. ErnstAnant K. MenonNature PortfolioarticleScienceQENNature Communications, Vol 7, Iss 1, Pp 1-11 (2016)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q Birgit Ploier Lydia N. Caro Takefumi Morizumi Kalpana Pandey Jillian N. Pearring Michael A. Goren Silvia C. Finnemann Johannes Graumann Vadim Y. Arshavsky Jeremy S. Dittman Oliver P. Ernst Anant K. Menon Dimerization deficiency of enigmatic retinitis pigmentosa-linked rhodopsin mutants
description	Retinitis pigmentosa is often caused by mutations that affect the activity or transport of rhodopsin, but some mutations cause disease even though an apparently functional protein is produced. Here the authors show that three such enigmatic mutants retain scramblase activity but are unable to dimerize.
format	article
author	Birgit Ploier Lydia N. Caro Takefumi Morizumi Kalpana Pandey Jillian N. Pearring Michael A. Goren Silvia C. Finnemann Johannes Graumann Vadim Y. Arshavsky Jeremy S. Dittman Oliver P. Ernst Anant K. Menon
author_facet	Birgit Ploier Lydia N. Caro Takefumi Morizumi Kalpana Pandey Jillian N. Pearring Michael A. Goren Silvia C. Finnemann Johannes Graumann Vadim Y. Arshavsky Jeremy S. Dittman Oliver P. Ernst Anant K. Menon
author_sort	Birgit Ploier
title	Dimerization deficiency of enigmatic retinitis pigmentosa-linked rhodopsin mutants
title_short	Dimerization deficiency of enigmatic retinitis pigmentosa-linked rhodopsin mutants
title_full	Dimerization deficiency of enigmatic retinitis pigmentosa-linked rhodopsin mutants
title_fullStr	Dimerization deficiency of enigmatic retinitis pigmentosa-linked rhodopsin mutants
title_full_unstemmed	Dimerization deficiency of enigmatic retinitis pigmentosa-linked rhodopsin mutants
title_sort	dimerization deficiency of enigmatic retinitis pigmentosa-linked rhodopsin mutants
publisher	Nature Portfolio
publishDate	2016
url	https://doaj.org/article/94c82e6657484b44baee46822dc7c91b
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Dimerization deficiency of enigmatic retinitis pigmentosa-linked rhodopsin mutants

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