Kansl1 haploinsufficiency impairs autophagosome-lysosome fusion and links autophagic dysfunction with Koolen-de Vries syndrome in mice

Koolen-de Vries syndrome (KdVS) is a rare disorder caused by haploinsufficiency of KAT8 regulatory NSL complex subunit 1 (KANSL1), which is characterized by intellectual disability, heart failure, hypotonia, and congenital malformations. To date, no effective treatment has been found for KdVS, large...

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Detalles Bibliográficos
Autores principales: Li, Ting, Lu, Dingyi, Yao, Chengcheng, Li, Tingting, Dong, Hua, Li, Zhan, Xu, Guang, Chen, Jiayi, Zhang, Hao, Yi, Xiaoyu, Zhu, Haizhen, Liu, Guangqin, Wen, Kaiqing, Zhao, Haixin, Gao, Jun, Zhang, Yakun, Han, Qiuying, Li, Teng, Zhang, Weina, Zhao, Jie, Li, Tao, Bai, Zhaofang, Song, Moshi, He, Xinhua, Zhou, Tao, Xia, Qing, Li, Ailing, Pan, Xin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8854428/
https://www.ncbi.nlm.nih.gov/pubmed/35177641
http://dx.doi.org/10.1038/s41467-022-28613-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8854428/
https://www.ncbi.nlm.nih.gov/pubmed/35177641
http://dx.doi.org/10.1038/s41467-022-28613-0

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