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4区医学 Q2 Biochemistry, Genetics and Molecular Biology

Advances in experimental medicine and biology Pub Date : 2025-01-01 DOI:10.1007/978-3-031-72230-1_36

Stephen H Tsang, Alicia R P Aycinena, Tarun Sharma

引用次数: 0

摘要

Sjögren-Larsson综合征是由ALDH3A2基因突变引起的，该基因会产生脂肪醛脱氢酶（FALDH）。FALDH是一种参与脂肪氧化的膜结合蛋白。结构紊乱和代谢物清除不良可能导致发病。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Ciliopathy: Sjögren-Larsson Syndrome.

Sjögren-Larsson syndrome is caused by a mutation in the ALDH3A2 gene, which produces fatty aldehyde dehydrogenase (FALDH). FALDH is a membrane-bound protein involved in fatty oxidation. Structural disturbance and poor metabolite clearance likely contribute to pathogenesis.

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来源期刊

Advances in experimental medicine and biology 医学-医学：研究与实验

CiteScore

5.90

自引率

0.00%

发文量

465

审稿时长

2-4 weeks

期刊介绍： Advances in Experimental Medicine and Biology provides a platform for scientific contributions in the main disciplines of the biomedicine and the life sciences. This series publishes thematic volumes on contemporary research in the areas of microbiology, immunology, neurosciences, biochemistry, biomedical engineering, genetics, physiology, and cancer research. Covering emerging topics and techniques in basic and clinical science, it brings together clinicians and researchers from various fields.