Associated Papers
Generation of two induced pluripotent stem cell lines and the corresponding isogenic controls from Parkinson's disease patients carrying the heterozygous mutations c.815G > A (p.R272Q) or c.1348C > T (p.R450C) in the RHOT1 gene encoding Miro1.
Chemla A et al.
Stem Cell Research, 2023
The role of RHOT1 and RHOT2 genetic variation on Parkinson disease risk and onset.
Periñán MT et al.
Neurobiology of Aging, 2021
The Emerging Role of RHOT1/Miro1 in the Pathogenesis of Parkinson's Disease.
Grossmann D et al.
Frontiers in Neurology, 2020
Variants in Miro1 Cause Alterations of ER-Mitochondria Contact Sites in Fibroblasts from Parkinson's Disease Patients.
Berenguer-Escuder C et al.
Journal of Clinical Medicine, 2019
Mutations in RHOT1 Disrupt Endoplasmic Reticulum-Mitochondria Contact Sites Interfering with Calcium Homeostasis and Mitochondrial Dynamics in Parkinson's Disease.
Grossmann D et al.
Antioxidants & Redox Signaling, 2019
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