Zhang J, Lachance V, Schaffner A, Li X, Fedick A, Kaye LE, Liao J, Rosenfeld J, Yachelevich N, Chu ML, Mitchell WG, Boles RG, Moran E, Tokita M, Gorman E, Bagley K, Zhang W, Xia F, Leduc M, Yang Y, Eng C, Wong LJ, Schiffmann R, Diaz GA, Kornreich R, Thummel R, Wasserstein M, Yue Z, Edelmann L

A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects.

PLoS Genet 12:e1005848 (2016)
DOI:10.1371/journal.pgen.1005848

Monfrini E, Cogiamanian F, Salani S, Straniero L, Fagiolari G, Garbellini M, Carsana E, Borellini L, Biella F, Moggio M, Bresolin N, Corti S, Duga S, Comi GP, Aureli M, Di Fonzo A

A Novel Homozygous VPS11 Variant May Cause Generalized Dystonia.

Ann Neurol 89:834-839 (2021)
DOI:10.1002/ana.26021

Zatyka M, Sarkar S, Barrett T

Autophagy in Rare (NonLysosomal) Neurodegenerative Diseases.

J Mol Biol 432:2735-2753 (2020)
DOI:10.1016/j.jmb.2020.02.012