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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2016-10-01
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Series: | Nature Communications |
Online Access: | https://doi.org/10.1038/ncomms12832 |
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doaj-94c82e6657484b44baee46822dc7c91b2021-05-11T10:34:51ZengNature Publishing GroupNature Communications2041-17232016-10-017111110.1038/ncomms12832Dimerization deficiency of enigmatic retinitis pigmentosa-linked rhodopsin mutantsBirgit Ploier0Lydia N. Caro1Takefumi Morizumi2Kalpana Pandey3Jillian N. Pearring4Michael A. Goren5Silvia C. Finnemann6Johannes Graumann7Vadim Y. Arshavsky8Jeremy S. Dittman9Oliver P. Ernst10Anant K. Menon11Department of Biochemistry, Weill Cornell Medical CollegeDepartment of Biochemistry, University of TorontoDepartment of Biochemistry, University of TorontoDepartment of Biochemistry, Weill Cornell Medical CollegeDepartment of Ophthalmology, Duke University Medical CenterDepartment of Biochemistry, Weill Cornell Medical CollegeDepartment of Biological Sciences, Center for Cancer, Genetic Diseases and Gene Regulation, Fordham UniversityDepartment of Biochemistry, Weill Cornell Medical CollegeDepartment of Ophthalmology, Duke University Medical CenterDepartment of Biochemistry, Weill Cornell Medical CollegeDepartment of Biochemistry, University of TorontoDepartment of Biochemistry, Weill Cornell Medical CollegeRetinitis 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.https://doi.org/10.1038/ncomms12832 |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
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 |
spellingShingle |
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 Nature Communications |
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 Publishing Group |
series |
Nature Communications |
issn |
2041-1723 |
publishDate |
2016-10-01 |
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. |
url |
https://doi.org/10.1038/ncomms12832 |
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