Nature Communications (Feb 2022)
Kansl1 haploinsufficiency impairs autophagosome-lysosome fusion and links autophagic dysfunction with Koolen-de Vries syndrome in mice
- Ting Li,
- Dingyi Lu,
- Chengcheng Yao,
- Tingting Li,
- Hua Dong,
- Zhan Li,
- Guang Xu,
- Jiayi Chen,
- Hao Zhang,
- Xiaoyu Yi,
- Haizhen Zhu,
- Guangqin Liu,
- Kaiqing Wen,
- Haixin Zhao,
- Jun Gao,
- Yakun Zhang,
- Qiuying Han,
- Teng Li,
- Weina Zhang,
- Jie Zhao,
- Tao Li,
- Zhaofang Bai,
- Moshi Song,
- Xinhua He,
- Tao Zhou,
- Qing Xia,
- Ailing Li,
- Xin Pan
Affiliations
- Ting Li
- State Key Laboratory of Proteomics, Institute of Basic Medical Sciences, National Center of Biomedical Analysis
- Dingyi Lu
- State Key Laboratory of Proteomics, Institute of Basic Medical Sciences, National Center of Biomedical Analysis
- Chengcheng Yao
- State Key Laboratory of Proteomics, Institute of Basic Medical Sciences, National Center of Biomedical Analysis
- Tingting Li
- State Key Laboratory of Proteomics, Institute of Basic Medical Sciences, National Center of Biomedical Analysis
- Hua Dong
- State Key Laboratory of Proteomics, Institute of Basic Medical Sciences, National Center of Biomedical Analysis
- Zhan Li
- Nanhu Laboratory
- Guang Xu
- State Key Laboratory of Proteomics, Institute of Basic Medical Sciences, National Center of Biomedical Analysis
- Jiayi Chen
- State Key Laboratory of Proteomics, Institute of Basic Medical Sciences, National Center of Biomedical Analysis
- Hao Zhang
- State Key Laboratory of Membrane Biology, Institute of Zoology, Chinese Academy of Sciences
- Xiaoyu Yi
- State Key Laboratory of Proteomics, Institute of Basic Medical Sciences, National Center of Biomedical Analysis
- Haizhen Zhu
- State Key Laboratory of Proteomics, Institute of Basic Medical Sciences, National Center of Biomedical Analysis
- Guangqin Liu
- State Key Laboratory of Proteomics, Institute of Basic Medical Sciences, National Center of Biomedical Analysis
- Kaiqing Wen
- State Key Laboratory of Proteomics, Institute of Basic Medical Sciences, National Center of Biomedical Analysis
- Haixin Zhao
- State Key Laboratory of Proteomics, Institute of Basic Medical Sciences, National Center of Biomedical Analysis
- Jun Gao
- State Key Laboratory of Proteomics, Institute of Basic Medical Sciences, National Center of Biomedical Analysis
- Yakun Zhang
- State Key Laboratory of Proteomics, Institute of Basic Medical Sciences, National Center of Biomedical Analysis
- Qiuying Han
- State Key Laboratory of Proteomics, Institute of Basic Medical Sciences, National Center of Biomedical Analysis
- Teng Li
- State Key Laboratory of Proteomics, Institute of Basic Medical Sciences, National Center of Biomedical Analysis
- Weina Zhang
- State Key Laboratory of Proteomics, Institute of Basic Medical Sciences, National Center of Biomedical Analysis
- Jie Zhao
- State Key Laboratory of Proteomics, Institute of Basic Medical Sciences, National Center of Biomedical Analysis
- Tao Li
- State Key Laboratory of Proteomics, Institute of Basic Medical Sciences, National Center of Biomedical Analysis
- Zhaofang Bai
- Military Institute of Chinese Materia, the Fifth Medical Centre of Chinese PLA General Hospital
- Moshi Song
- State Key Laboratory of Membrane Biology, Institute of Zoology, Chinese Academy of Sciences
- Xinhua He
- Nanhu Laboratory
- Tao Zhou
- State Key Laboratory of Proteomics, Institute of Basic Medical Sciences, National Center of Biomedical Analysis
- Qing Xia
- State Key Laboratory of Proteomics, Institute of Basic Medical Sciences, National Center of Biomedical Analysis
- Ailing Li
- State Key Laboratory of Proteomics, Institute of Basic Medical Sciences, National Center of Biomedical Analysis
- Xin Pan
- State Key Laboratory of Proteomics, Institute of Basic Medical Sciences, National Center of Biomedical Analysis
- DOI
- https://doi.org/10.1038/s41467-022-28613-0
- Journal volume & issue
-
Vol. 13,
no. 1
pp. 1 – 16
Abstract
Here the authors show that the Koolen-de Vries syndrome associated gene KANSL1 modulates autophagosome-lysosome fusion via transcriptional regulation of autophagosomal gene Syntaxin17, and that 13-cis retinoic acid can reverses mitophagic defects and neurobehavioural abnormalities of mice lacking Kansl1.
