Varaico: Literature-Extracted Genetic Variants

Gene:PLD3
Variant:p.V232M
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PLD3

NM_012268.4:p.V232M

Associated Papers

Crystal structure of Alzheimer's disease phospholipase D3 provides a molecular basis for understanding its normal and pathological functions.

Ishii K et al.

The Febs Journal, 2024

Structure of human phospholipase D3, a single-strand exonuclease associated with Alzheimer's disease.

Bijelic A et al.

The Febs Journal, 2024

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

Singh S et al.

Cell, 2024

Phospholipase D3 regulates TFEB/TFE3 metabolism to maintain lysosomal homeostasis.

Wang Y et al.

Biorxiv : the Preprint Server for Biology, 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

Neuroprotective factors affect the progression of Alzheimer's disease.

Liu Y et al.

Biochemical and Biophysical Research Communications, 2023

Phospholipase D3 degrades mitochondrial DNA to regulate nucleotide signaling and APP metabolism.

Van Acker ZP et al.

Nature Communications, 2023

RAF1 deficiency causes a lethal syndrome that underscores RTK signaling during embryogenesis.

Wong S et al.

Embo Molecular Medicine, 2023

37066513 (PubMed )
Supplement: EMMM-15-e17078-s005.xlsx › Hets

Genetics of Alzheimer's disease: an East Asian perspective.

Miyashita A et al.

Journal of Human Genetics, 2023

Intervention of next-generation sequencing in diagnosis of Alzheimer's disease: challenges and future prospects.

Chandy T

Dementia & Neuropsychologia, 2023

PLD3 affects axonal spheroids and network defects in Alzheimer's disease.

Yuan P et al.

Nature, 2022

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

The transcriptional landscape of Alzheimer's disease and its association with Wnt signaling pathway.

Martínez M et al.

Neuroscience and Biobehavioral Reviews, 2021

PLD3 is a neuronal lysosomal phospholipase D associated with β-amyloid plaques and cognitive function in Alzheimer's disease.

Nackenoff AG et al.

Plos Genetics, 2021

Association of rare variants in neurodegenerative genes with familial Alzheimer's disease.

Zhang W et al.

Annals of Clinical and Translational Neurology, 2020

Genome sequencing for early-onset or atypical dementia: high diagnostic yield and frequent observation of multiple contributory alleles.

Cochran JN et al.

Cold Spring Harbor Molecular Case Studies, 2019

Association of Acquired and Heritable Factors With Intergenerational Differences in Age at Symptomatic Onset of Alzheimer Disease Between Offspring and Parents With Dementia.

Day GS et al.

Jama Network Open, 2019

V232M substitution restricts a distinct O-glycosylation of PLD3 and its neuroprotective function.

Demirev AV et al.

Neurobiology of Disease, 2019

Whole-Exome Sequencing of an Exceptional Longevity Cohort.

Nygaard HB et al.

The Journals of Gerontology. Series A, Biological Sciences and Medical Sciences, 2019

A rare missense variant of CASP7 is associated with familial late-onset Alzheimer's disease.

Zhang X et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2019

Complement C7 is a novel risk gene for Alzheimer's disease in Han Chinese.

Zhang DF et al.

National Science Review, 2019

PLD3 Rare Variants Identified in Late-Onset Alzheimer's Disease Affect Amyloid-β Levels in Cellular Model.

Tan M et al.

Frontiers in Neuroscience, 2019

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

Blanco-Luquin I et al.

Clinical Epigenetics, 2018

The effect of rare variants in TREM2 and PLD3 on longitudinal cognitive function in the Wisconsin Registry for Alzheimer's Prevention.

Engelman CD et al.

Neurobiology of Aging, 2018

Genome-wide significant risk factors on chromosome 19 and the APOE locus.

Moreno-Grau S et al.

Oncotarget, 2018

Rare Variants in PLD3 Increase Risk for Alzheimer's Disease in Han Chinese.

Tan MS et al.

Journal of Alzheimer's Disease : Jad, 2018

Linkage, whole genome sequence, and biological data implicate variants in RAB10 in Alzheimer's disease resilience.

Ridge PG et al.

Genome Medicine, 2017

Genetics of Alzheimer's disease: From pathogenesis to clinical usage.

Shao W et al.

Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 2017

Genetics of Alzheimer's Disease: the Importance of Polygenic and Epistatic Components.

Raghavan N et al.

Current Neurology and Neuroscience Reports, 2017

Molecular Genetics of Neurodegenerative Dementias.

Hinz FI et al.

Cold Spring Harbor Perspectives in Biology, 2017

PLD3 gene and processing of APP.

Fazzari P et al.

Nature, 2017

State of Play in Alzheimer's Disease Genetics.

Zhu JB et al.

Journal of Alzheimer's Disease : Jad, 2017

Genetic Biomarkers on Age-Related Cognitive Decline.

Lin CH et al.

Frontiers in Psychiatry, 2017

Genomics of Alzheimer's disease: Value of high-throughput genomic technologies to dissect its etiology.

Tosto G et al.

Molecular and Cellular Probes, 2016

Impact of Common Variations in PLD3 on Neuroimaging Phenotypes in Non-demented Elders.

Wang C et al.

Molecular Neurobiology, 2016

PLD3 in Alzheimer's Disease: a Modest Effect as Revealed by Updated Association and Expression Analyses.

Zhang DF et al.

Molecular Neurobiology, 2016

Differential burden of rare protein truncating variants in Alzheimer's disease patients compared to centenarians.

Freudenberg-Hua Y et al.

Human Molecular Genetics, 2016

Genetic variations underlying Alzheimer's disease: evidence from genome-wide association studies and beyond.

Cuyvers E et al.

The Lancet. Neurology, 2016

The genetic landscape of Alzheimer disease: clinical implications and perspectives.

Van Cauwenberghe C et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016

Interaction between variants in CLU and MS4A4E modulates Alzheimer's disease risk.

Ebbert MTW et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2016

Rare truncating variations and risk of schizophrenia: Whole-exome sequencing in three families with affected siblings and a three-stage follow-up study in a Japanese population.

Watanabe Y et al.

Psychiatry Research, 2016

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