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Updated: May 23, 2025

Detection of Nuclear Blebbing and DNA Leakage in Mammalian Cells by Immunofluorescence
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Published on: January 17, 2025

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由库夫斯病/CLN4 DNAJC5 突变引起的神经性脂菌,但不是由CSPα/DNAJC5 缺乏引起的

Santiago López-Begines1, Nozha Borjini1, Ángela Lavado-Roldán1

  • 1Instituto de Biomedicina de Sevilla (IBiS, Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla), Departamento de Fisiología Médica y Biofísica, Facultad de Medicina, and CIBERNED ISCIII, Seville, Spain.

Science advances
|May 21, 2025
PubMed
概括

DNAJC5基因的突变通过改变氨酸链蛋白α (CSPα/DNAJC5) 来引起库夫斯病 (CLN4). 新的小鼠模型显示,CSPα/DNAJC5的功能增强导致神经元脂肪.

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