Milenkovic, Andrea and Brandl, Caroline and Nachtigal, Anna-Lena and Kellner, Ulrich and Weber, Bernhard H. F. (2020) Mutation-Dependent Mechanisms and Their Impact on Targeted Therapeutic Strategies with Reference to Bestrophin 1 and the Bestrophinopathies. KLINISCHE MONATSBLATTER FUR AUGENHEILKUNDE, 237 (3). pp. 259-266. ISSN 0023-2165, 1439-3999
Full text not available from this repository. (Request a copy)Abstract
Bestrophin 1 (BEST1) encodes an integral membrane protein localized in the basolateral aspect of the retinal pigment epithelium. Mutations in BEST1 are associated with distinct retinal dystrophies, the so-called "bestrophinopathies", often causing visual impairment, even in early childhood. The clinical entities of the bestrophinopathies can be distinguished by phenotypic characteristics and mode of inheritance of the respective gene defect. While the autosomal dominant inheritance pattern with one altered copy of BEST1 is common, heterozygous carriers of the autosomal recessive bestrophinopathy are generally but not consistently symptom-free. This review highlights the significance of understanding the underlying molecular mechanisms that contribute to disease pathogenesis of autosomal dominant and autosomal recessive bestrophinopathies. This knowledge is deemed crucial and needs to be considered in future planning of treatment strategies.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | PLURIPOTENT STEM-CELLS; BEST-DISEASE; GENE; CONDUCTANCE; DEGRADATION; PHENOTYPE; GENOTYPE; INSIGHTS; PROTEIN; VMD2; Bestrophin 1; vitelliform macular dystrophy; ER- and post-ER associated protein degradation; induced pluripotent stem cells; gene therapy |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Humangenetik |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 29 Mar 2021 10:31 |
| Last Modified: | 29 Mar 2021 10:31 |
| URI: | https://pred.uni-regensburg.de/id/eprint/45000 |
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