BEST1 protein stability and degradation pathways differ between autosomal dominant Best disease and autosomal recessive bestrophinopathy accounting for the distinct retinal phenotypes
Milenkovic, Andrea, Milenkovic, Vladimir M., Wetzel, Christian H.
and Weber, Bernhard H. F.
(2018)
BEST1 protein stability and degradation pathways differ between autosomal dominant Best disease and autosomal recessive bestrophinopathy accounting for the distinct retinal phenotypes.
Human Molecular Genetics 27 (9), pp. 1630-1641.
Date of publication of this fulltext: 28 Jul 2021 17:19
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| Item type | Article | ||||
| Journal or Publication Title | Human Molecular Genetics | ||||
| Publisher: | Oxford Univ. Press | ||||
|---|---|---|---|---|---|
| Place of Publication: | OXFORD | ||||
| Volume: | 27 | ||||
| Number of Issue or Book Chapter: | 9 | ||||
| Page Range: | pp. 1630-1641 | ||||
| Date | 2018 | ||||
| Institutions | Medicine > Lehrstuhl für Humangenetik | ||||
| Identification Number |
| ||||
| Keywords | VITELLIFORM MACULAR DYSTROPHY; ENDOPLASMIC-RETICULUM; PLASMA-MEMBRANE; QUALITY-CONTROL; PIGMENT EPITHELIUM; SODIUM 4-PHENYLBUTYRATE; MUTANT BESTROPHIN-1; IN-VITRO; MUTATIONS; GENE; | ||||
| Dewey Decimal Classification | 600 Technology > 610 Medical sciences Medicine | ||||
| Status | Published | ||||
| Refereed | Yes, this version has been refereed | ||||
| Created at the University of Regensburg | Yes | ||||
| Item ID | 47236 |
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