Varaico: Literature-Extracted Genetic Variants

Gene:PLD3
Variant:p.L308P
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PLD3

NM_012268.4:p.L308P

Associated Papers

PLD3 and PLD4 synthesize S,S-BMP, a key phospholipid enabling lipid degradation in lysosomes.

Singh S et al.

Cell, 2024

Lysosomal endonuclease RNase T2 and PLD exonucleases cooperatively generate RNA ligands for TLR7 activation.

Bérouti M et al.

Immunity, 2024

Structural and mechanistic insights into disease-associated endolysosomal exonucleases PLD3 and PLD4.

Yuan M et al.

Structure (london, England : 1993), 2024

PLD3 and PLD4 synthesize S,S-BMP, a key phospholipid enabling lipid degradation in lysosomes.

Singh S et al.

Biorxiv : the Preprint Server for Biology, 2024

Structural and mechanistic insights into disease-associated endolysosomal exonucleases PLD3 and PLD4.

Yuan M et al.

Biorxiv : the Preprint Server for Biology, 2023

Loss of zinc-finger protein 212 leads to Purkinje cell death and locomotive abnormalities with phospholipase D3 downregulation.

Khang R et al.

Scientific Reports, 2021

Case Report: A Homozygous Mutation (p.Y62X) of Phospholipase D3 May Lead to a New Leukoencephalopathy Syndrome.

Liu YH et al.

Frontiers in Aging Neuroscience, 2021

Spinocerebellar ataxia: an update.

Sullivan R et al.

Journal of Neurology, 2019

PLD3 and spinocerebellar ataxia.

Gonzalez AC et al.

Brain : a Journal of Neurology, 2018

Reply: PLD3 and spinocerebellar ataxia.

Ma KY et al.

Brain : a Journal of Neurology, 2018

PLD3 epigenetic changes in the hippocampus of Alzheimer's disease.

Blanco-Luquin I et al.

Clinical Epigenetics, 2018

Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia.

Nibbeling EAR et al.

Brain : a Journal of Neurology, 2017

Rare Variants in PLD3 Do Not Affect Risk for Early-Onset Alzheimer Disease in a European Consortium Cohort.

Cacace R et al.

Human Mutation, 2015

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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."