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Disturbed retinoid metabolism upon loss of rlbp1a impairs cone function and leads to subretinal lipid deposits and photoreceptor degeneration in the zebrafish retina

The RLBP1 gene encodes the 36 kDa cellular retinaldehyde-binding protein, CRALBP, a soluble retinoid carrier, in the visual cycle of the eyes. Mutations in RLBP1 are associated with recessively inherited clinical phenotypes, including Bothnia dystrophy, retinitis pigmentosa, retinitis punctata albes...

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Detalles Bibliográficos
Autores principales: Schlegel, Domino K, Ramkumar, Srinivasagan, von Lintig, Johannes, Neuhauss, Stephan CF
Formato: Online Artículo Texto
Lenguaje:English
Publicado: eLife Sciences Publications, Ltd 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8585484/
https://www.ncbi.nlm.nih.gov/pubmed/34668483
http://dx.doi.org/10.7554/eLife.71473