Baldspot/ELOVL6 is a conserved modifier of disease and the ER stress response
作者： Clement Y Chow , Rebecca Palu
DOI: 10.1101/261206
关键词:
摘要: Endoplasmic reticulum (ER) stress is an important modifier of human disease. Genetic variation in genes involved the ER response has been linked to inter-individual differences this response. However, mechanisms and pathways by which genetic modifiers are acting on remain unclear. In study, we characterize role long chain fatty acid elongase Baldspot (ELOVL6) modifying We demonstrate that loss rescues degeneration reduces IRE1-dependent Xbp1 splicing cell death a Drosophila model retinitis pigmentosa (Rh1G69D). Dietary supplementation stearate bypasses need for activity. Finally, regulates across different tissues induction methods. Our findings suggest ELOVL6 promising target treatment not only pigmentosa, but number related disorders.
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