ELOVL4 Mutations That Cause Spinocerebellar Ataxia-34 Differentially Alter Very Long Chain Fatty Acid Biosynthesis.

Gyening, Yeboah Kofi; Chauhan, Neeraj Kumar; Tytanic, Madison; Ea, Vicki; Brush, Richard S; Agbaga, Martin-Paul

Gyening, Yeboah Kofi; Chauhan, Neeraj Kumar; Tytanic, Madison; Ea, Vicki; Brush, Richard S; Agbaga, Martin-Paul.

Afiliación

Gyening YK; Departments of Cell Biology, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA; Department of Ophthalmology, Dean McGee Eye Institute, Oklahoma City, Oklahoma, USA.
Chauhan NK; Departments of Cell Biology, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA; Department of Ophthalmology, Dean McGee Eye Institute, Oklahoma City, Oklahoma, USA.
Tytanic M; Departments of Cell Biology, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA; Department of Ophthalmology, Dean McGee Eye Institute, Oklahoma City, Oklahoma, USA.
Ea V; Department of Ophthalmology, Dean McGee Eye Institute, Oklahoma City, Oklahoma, USA.
Brush RS; Department of Ophthalmology, Dean McGee Eye Institute, Oklahoma City, Oklahoma, USA; Departments of Ophthalmology, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA.
Agbaga MP; Departments of Cell Biology, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA; Department of Ophthalmology, Dean McGee Eye Institute, Oklahoma City, Oklahoma, USA; Departments of Ophthalmology, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA. El

J Lipid Res ; 64(1): 100317, 2023 01.

Article en En | MEDLINE | ID: mdl-36464075

Asunto(s)

Eritroqueratodermia Variable; Ataxias Espinocerebelosas; Masculino; Humanos; Semen/metabolismo; Ácidos Grasos Insaturados/metabolismo; Mutación; Proteínas del Ojo/genética; Proteínas de la Membrana/metabolismo

Palabras clave

autosomal dominant Stargardt macular dystrophy; elongation of very long chain fatty acid-4; erythrokeratodermia variabilis; eye/retina; fatty acid metabolism; lipids; omega-3 fatty acids; saturated fatty acid; tissue-specific pathologies; very long chain polyunsaturated fatty acids

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Ataxias Espinocerebelosas / Eritroqueratodermia Variable Límite: Humans / Male Idioma: En Revista: J Lipid Res Año: 2023 Tipo del documento: Article País de afiliación: Estados Unidos

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