Mouse Nr2f1 haploinsufficiency unveils new pathological mechanisms of a human optic atrophy syndrome.
Bertacchi M, Gruart A, Kaimakis P, Allet C, Serra L, Giacobini P, Delgado-García JM, Bovolenta P, Studer M.
Bertacchi M, et al.
EMBO Mol Med. 2019 Aug;11(8):e10291. doi: 10.15252/emmm.201910291. Epub 2019 Jul 18.
EMBO Mol Med. 2019.
PMID: 31318166
Free PMC article.
Importantly, some of these clinical features, such the optic nerve hypomyelination, could be rescued by chemical drug treatment in early postnatal life. Overall, our data shed new insights into the cellular mechanisms of optic nerve atrophy in BBSOA patients and open a pro …
Importantly, some of these clinical features, such the optic nerve hypomyelination, could be rescued by chemical drug treatment in ea …