Search Results - "Yeboah, Gyening Kofi"

A novel ELOVL4 variant, L168S, causes early childhood-onset Spinocerebellar ataxia-34 and retinal dysfunction: a case report by Gyening, Yeboah Kofi, Boris, Keren, Cyril, Mignot, Brush, Richard S, Nassogne, Marie-Cécile, Agbaga, Martin-Paul

“…Spinocerebellar ataxia 34 (SCA34) is an autosomal dominant inherited disease characterized by age-related cerebellar degeneration and ataxia caused by…”
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Very long chain fatty acid-containing lipids: a decade of novel insights from the study of ELOVL4 by Yeboah, Gyening Kofi, Lobanova, Ekaterina S., Brush, Richard S., Agbaga, Martin-Paul

“…Lipids play essential roles in maintaining cell structure and function by modulating membrane fluidity and cell signaling. The fatty acid elongase-4 (ELOVL4)…”
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ELOVL4 Mutations That Cause Spinocerebellar Ataxia-34 Differentially Alter Very Long Chain Fatty Acid Biosynthesis by Gyening, Yeboah Kofi, Chauhan, Neeraj Kumar, Tytanic, Madison, Ea, Vicki, Brush, Richard S., Agbaga, Martin-Paul

“…The FA Elongase-4 (ELOVL4) enzyme mediates biosynthesis of both very long chain (VLC)-PUFAs and VLC-saturated FA (VLC-SFAs). VLC-PUFAs play critical roles in…”
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Deciphering Mutant ELOVL4 Activity in Different Disease Phenotypes by Gyening, Yeboah Kofi

“…The fatty acid elongase-4 (ELOVL4) enzyme mediates tissue-specific biosynthesis of both very long chain-polyunsaturated fatty acids (VLC-PUFAs) and…”
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