Kansl1 haploinsufficiency impairs autophagosome-lysosome fusion and links autophagic dysfunction with Koolen-de Vries syndrome in mice.
Li T, Lu D, Yao C, Li T, Dong H, Li Z, Xu G, Chen J, Zhang H, Yi X, Zhu H, Liu G, Wen K, Zhao H, Gao J, Zhang Y, Han Q, Li T, Zhang W, Zhao J, Li T, Bai Z, Song M, He X, Zhou T, Xia Q, Li A, Pan X.
Li T, et al.
Nat Commun. 2022 Feb 17;13(1):931. doi: 10.1038/s41467-022-28613-0.
Nat Commun. 2022.
PMID: 35177641
Free PMC article.
Kansl1(+/-) mice exhibit impairment in the autophagic clearance of damaged mitochondria and accumulation of reactive oxygen species, thereby resulting in defective neuronal and cardiac functions. ...
Kansl1(+/-) mice exhibit impairment in the autophagic clearance of damaged mitochondria and accumulation of reactive oxygen species, …