Varaico: Literature-Extracted Genetic Variants

Gene:RILP
Variant:p.Q67L
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RILP

NM_031430.3:p.Q67L

Associated Papers

Allosteric regulation of the Golgi-localized PPM1H phosphatase by Rab GTPases modulates LRRK2 substrate dephosphorylation in Parkinson's disease.

Adhikari A et al.

The Journal of Biological Chemistry, 2025

Structural basis for binding of RILPL1 to TMEM55B reveals a lysosomal platform for adaptor assembly through a conserved TBM motif.

Waschbüsch D et al.

Biorxiv : the Preprint Server for Biology, 2025

Insights into the distinct membrane targeting mechanisms of WDR91 family proteins.

Ma X et al.

Structure (london, England : 1993), 2024

VP28 interacts with PmRab7 irrespective of its nucleotide state.

Sudsat P et al.

Scientific Reports, 2024

Annexin A6 modulates TBC1D15/Rab7/StARD3 axis to control endosomal cholesterol export in NPC1 cells.

Meneses-Salas E et al.

Cellular and Molecular Life Sciences : Cmls, 2020

Structural Basis for Rab8a Recruitment of RILPL2 via LRRK2 Phosphorylation of Switch 2.

Waschbüsch D et al.

Structure (london, England : 1993), 2020

32017888 (PubMed )
Supplement: mmc2.pdf

Structural basis of human ORP1-Rab7 interaction for the late-endosome and lysosome targeting.

Tong J et al.

Plos One, 2019

Disease mutations in Rab7 result in unregulated nucleotide exchange and inappropriate activation.

McCray BA et al.

Human Molecular Genetics, 2010

20028791 (PubMed )
Supplement: ddp567_1.pdf

Activation of endosomal dynein motors by stepwise assembly of Rab7-RILP-p150Glued, ORP1L, and the receptor betalll spectrin.

Johansson M et al.

The Journal of Cell Biology, 2007

A splice variant of RILP induces lysosomal clustering independent of dynein recruitment.

Marsman M et al.

Biochemical and Biophysical Research Communications, 2006

Human Vam6p promotes lysosome clustering and fusion in vivo.

Caplan S et al.

The Journal of Cell Biology, 2001

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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."