Genetic, Structural, and Functional Evidence Link TMEM175 to Synucleinopathies.

Lynne KrohnTuğba Nur ÖztürkBenoît VanderperreBouchra Ouled Amar BencheikhJennifer A RuskeySandra B LaurentDan SpiegelmanRonald B PostumaIsabelle ArnulfMichele T M HuYves DauvilliersBirgit HöglAmbra StefaniChristelle Charley MonacaGiuseppe PlazziElena AntelmiLuigi Ferini-StrambiAnna HeidbrederUladzislau RudakouValérie Cochen De CockPeter YoungPavlina WolfPetra OlivaXiaokui Kate ZhangLior GreenbaumChristopher LiongJean-François GagnonAlex DesautelsSharon Hassin-BaerJacques Y MontplaisirNicolas DupréGuy A RouleauEdward A FonJean-François TrempeGuillaume LamoureuxRoy N AlcalayZiv Gan Or

Published in: Annals of neurology (2019)

Coding variants in TMEM175 are likely to be responsible for the association in the TMEM175/GAK/DGKQ locus, which could be mediated by affecting GCase activity. ANN NEUROL 2020;87:139-153.

Keyphrases

copy number
genome wide
dna methylation
neural network
gene expression
genome wide association study