Advances in Disease Models

0523246 - ÚMG 2020 RIV CZ eng M - Část monografie knihy
Staněk, David
Model organisms for retinitis pigmentosa. Advances in Disease Models.
Advances in Disease Models. Praha: OPTIO CZ, 2019 - (Bartůněk, P.), s. 262-270. ISBN 978-80-88011-06-4
Grant CEP: GA MŠMT LO1419
Institucionální podpora: RVO:68378050
Klíčová slova: Retinitis pigmentosa * animal model * photoreceptor cells
Obor OECD: Biochemistry and molecular biology

Retinitis pigmentosa is a hereditary disorder characterized by gradual loss of photoreceptor and pigment epithelial cells. Till now, mutations in nearly 100 genes have been identified as a cause of retinitis pigmentosa. These genes encode proteins important for structure and function of photoreceptor cells (e.g. rhodopsin). However, several targeted genes encode proteins involved in pre-mRNA splicing, a key step in gene expression. This manuscript summarizes animal models that are used for studying retinitis pigmentosa and shortly discuss pro and cons of each experimental animal.
Trvalý link: http://hdl.handle.net/11104/0307618