Varaico: Literature-Extracted Genetic Variants

Gene:RHOT1
Variant:p.R272Q
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RHOT1

NM_001033566.3:p.R272Q

Associated Papers

Parkinson's disease mutant Miro1 causes mitochondrial dysfunction and dopaminergic neuron loss.

Chemla A et al.

Brain : a Journal of Neurology, 2025

MIRO1 controls energy production and proliferation of vascular smooth muscle cells.

Qian L et al.

Biorxiv : the Preprint Server for Biology, 2025

MIRO1 mutation leads to metabolic maladaptation resulting in Parkinson's disease-associated dopaminergic neuron loss.

Zagare A et al.

Npj Systems Biology and Applications, 2025

Deciphering shared molecular dysregulation across Parkinson's disease variants using a multi-modal network-based data integration and analysis.

Zagare A et al.

Npj Parkinson's Disease, 2025

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

Miro1 R272Q disrupts mitochondrial calcium handling and neurotransmitter uptake in dopaminergic neurons.

Schwarz L et al.

Frontiers in Molecular Neuroscience, 2022

Generation of R272Q, S156A and K572R RHOT1/Miro1 point mutations in iPSCs from a healthy individual using FACS-assisted CRISPR/Cas9 genome editing.

Schwarz L et al.

Stem Cell Research, 2021

The role of RHOT1 and RHOT2 genetic variation on Parkinson disease risk and onset.

Periñán MT et al.

Neurobiology of Aging, 2021

Impaired mitochondrial-endoplasmic reticulum interaction and mitophagy in Miro1-mutant neurons in Parkinson's disease.

Berenguer-Escuder C et al.

Human Molecular Genetics, 2020

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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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."