Varaico: Literature-Extracted Genetic Variants

Gene:PPM1H
Variant:p.H153D
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PPM1H

NM_020700.2:p.H153D

Associated Papers

PPM1M, an LRRK2-counteracting, phosphoRab12-preferring phosphatase with a potential link to Parkinson's disease.

Chiang CY et al.

Cell Reports, 2025

Genome-wide screen reveals Rab12 GTPase as a critical activator of Parkinson's disease-linked LRRK2 kinase.

Dhekne HS et al.

Elife, 2023

Regulatory imbalance between LRRK2 kinase, PPM1H phosphatase, and ARF6 GTPase disrupts the axonal transport of autophagosomes.

Dou D et al.

Cell Reports, 2023

Structural basis for the specificity of PPM1H phosphatase for Rab GTPases.

Waschbüsch D et al.

Embo Reports, 2021

Deciphering the LRRK code: LRRK1 and LRRK2 phosphorylate distinct Rab proteins and are regulated by diverse mechanisms.

Malik AU et al.

The Biochemical Journal, 2021

PPM1H phosphatase counteracts LRRK2 signaling by selectively dephosphorylating Rab proteins.

Berndsen K et al.

Elife, 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."