Structural and functional rescue of cones carrying the most common cone opsin C203R missense mutation.

Sechrest, Emily R; Ma, Xiaojie; Cahill, Marion E; Barbera, Robert J; Wang, Yixiao; Deng, Wen-Tao

Sechrest, Emily R; Ma, Xiaojie; Cahill, Marion E; Barbera, Robert J; Wang, Yixiao; Deng, Wen-Tao.

Afiliación

Sechrest ER; Department of Ophthalmology and Visual Sciences, West Virginia University, Morgantown, West Virginia, USA.
Ma X; Department of Ophthalmology, University of Florida, Gainesville, Florida, USA.
Cahill ME; Department of Ophthalmology and Visual Sciences, West Virginia University, Morgantown, West Virginia, USA.
Barbera RJ; Department of Biology and.
Wang Y; Department of Ophthalmology and Visual Sciences, West Virginia University, Morgantown, West Virginia, USA.
Deng WT; Department of Ophthalmology, University of Florida, Gainesville, Florida, USA.

JCI Insight ; 9(2)2024 Jan 23.

Article en En | MEDLINE | ID: mdl-38060327

Asunto(s)

Defectos de la Visión Cromática; Opsinas de los Conos; Células Fotorreceptoras Retinianas Conos; Humanos; Animales; Ratones; Células Fotorreceptoras Retinianas Conos/metabolismo; Mutación Missense; Opsinas de los Conos/genética; Opsinas de los Conos/metabolismo; Rodopsina/genética

Palabras clave

Gene therapy; Genetic diseases; Ophthalmology; Protein misfolding

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Defectos de la Visión Cromática / Células Fotorreceptoras Retinianas Conos / Opsinas de los Conos Límite: Animals / Humans Idioma: En Revista: JCI Insight Año: 2024 Tipo del documento: Article País de afiliación: Estados Unidos

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