Variants in Miro1 Cause Alterations of ER-Mitochondria Contact Sites in Fibroblasts from Parkinson's Disease Patients.

Clara Berenguer-EscuderDajana GrossmannFranҫois MassartPaul AntonyLena F BurbullaEnrico GlaabSophie ImhoffJoanne TrinhPhilip SeiblerAnne GrünewaldRejko Krüger

Published in: Journal of clinical medicine (2019)

Our data suggest that Miro1 is important for the regulation of the structure and function of MERCs. Moreover, our study supports the role of MERCs in the pathogenesis of PD and further establishes variants in RHOT1 as rare genetic risk factors for neurodegeneration.

Keyphrases

copy number
end stage renal disease
newly diagnosed
ejection fraction
chronic kidney disease
cell death
prognostic factors
endoplasmic reticulum
big data
gene expression
dna methylation
artificial intelligence
estrogen receptor