Aug 2026
Rare Heterozygous Loss-of-Function Variants in MCOLN1 Identified in Two Sporadic Patients with α-Synucleinopathies.
It is demonstrated that both heterozygous MCOLN1 variants impair TRPML1 function in vitro, identifying MCOLN1 as a candidate gene for α-synucleinopathies that warrants further investigation in larger cohorts.
Chenxin Ying, Xinhui Chen, Zhidong Cen et al.
· Movement Disorders · 0 citations