A homozygous variant in CHMP3 is associated with complex hereditary spastic paraplegia

Conclusions Reduced level of CHMP3 is associated with complex spastic paraplegia phenotype, through aberrant autophagy mechanisms.

http://jmg.bmj.com/cgi/content/short/60/3/233?rss=1

Source: Journal of Medical Genetics - February 23, 2023 Category: Genetics & Stem Cells Authors: Cohen-Barak, E., Danial-Farran, N., Chervinsky, E., Alimi-Kasem, O., Zagairy, F., Livneh, I., Mawassi, B., Hreish, M., Khayat, M., Lossos, A., Meiner, V., Ehilevitch, N., Weiss, K., Shalev, S. Tags: Neurogenetics Source Type: research