Varaico: Literature-Extracted Genetic Variants

Gene:PLD1
Variant:p.K898R
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PLD1

NM_002662.5:p.K898R

Associated Papers

Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy.

Lahrouchi N et al.

The Journal of Clinical Investigation, 2021

Crystal structure of human PLD1 provides insight into activation by PI(4,5)P2 and RhoA.

Bowling FZ et al.

Nature Chemical Biology, 2020

Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease.

Cruchaga C et al.

Nature, 2014

The Coffin-Lowry syndrome-associated protein RSK2 regulates neurite outgrowth through phosphorylation of phospholipase D1 (PLD1) and synthesis of phosphatidic acid.

Ammar MR et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2013

Attenuated PLD1 association and signalling at the H452Y polymorphic form of the 5-HT(2A) receptor.

Barclay Z et al.

Cellular Signalling, 2013

Class III PI-3-kinase activates phospholipase D in an amino acid-sensing mTORC1 pathway.

Yoon MS et al.

The Journal of Cell Biology, 2011

Dependence of phospholipase D1 multi-monoubiquitination on its enzymatic activity and palmitoylation.

Yin H et al.

The Journal of Biological Chemistry, 2010

Intracellular trafficking of presenilin 1 is regulated by beta-amyloid precursor protein and phospholipase D1.

Liu Y et al.

The Journal of Biological Chemistry, 2009

HIF alpha expression in VHL-deficient renal cancer cells is dependent on phospholipase D.

Toschi A et al.

Oncogene, 2008

Catalytic inactivation of human phospholipase D2 by a naturally occurring Gly901Asp mutation.

Yamada Y et al.

Archives of Medical Research, 2006

PLD1 regulates mTOR signaling and mediates Cdc42 activation of S6K1.

Fang Y et al.

Current Biology : Cb, 2003

Regulation of phospholipase D1 subcellular cycling through coordination of multiple membrane association motifs.

Du G et al.

The Journal of Cell Biology, 2003

Fatty acylation of phospholipase D1 on cysteine residues 240 and 241 determines localization on intracellular membranes.

Sugars JM et al.

The Journal of Biological Chemistry, 1999

Structural analysis of human phospholipase D1.

Sung TC et al.

The Journal of Biological Chemistry, 1999

Mutagenesis of phospholipase D defines a superfamily including a trans-Golgi viral protein required for poxvirus pathogenicity.

Sung TC et al.

The Embo Journal, 1997

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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."