ReviewMetabolites2022
PNPLA6/NTE, an Evolutionary Conserved Phospholipase Linked to a Group of Complex Human Diseases.
Review in Metabolites, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed.
- Review
- Identification of novel compound heterozygous variants of the PNPLA6 gene in Oliver-McFarlane syndrome with concomitant insulin resistance.Genes & diseases · 2026Article
- Beyond Neurodegeneration: White Matter Vacuolation as a Primary Myelin Defect.International journal of molecular sciences · 2026Review
- Neuroprotective Potential of Spermidine in Drosophila sws Neurodegenerative Model.Archives of insect biochemistry and physiology · 2026Article
- Splenial corpus callosum lesions in Boucher-Neuhäuser syndrome: a case series and comprehensive literature review with exploratory analysis of disease duration.Neuroradiology · 2026Article
- The cyclic nucleotide binding sites of Swiss-Cheese, thebioRxiv : the preprint server for biology · 2025Article
- The balancing act between lipid droplets and lysosomes for membrane functionality in age-related neurodegeneration and inflammation.Progress in lipid research · 2025Review
- Cellular and organismal function of choline metabolism.Nature metabolism · 2025Review
- Lipid droplet targeting of ABHD5 and PNPLA3 I148M is required to promote liver steatosis.bioRxiv : the preprint server for biology · 2024Article
- Article
- Plasma Neurofilament Light Chain Is Elevated in Adaptor Protein Complex 4-Related Hereditary Spastic Paraplegia.Movement disorders : official journal of the Movement Disorder Society · 2023Article
- Review
- De novo variants cause complex symptoms in HSP-ATL1 (SPG3A) and uncover genotype-phenotype correlations.Human molecular genetics · 2023Article
- The Catalytic Domain of Neuropathy Target Esterase Influences Lipid Droplet Biogenesis and Lipid Metabolism in Human Neuroblastoma Cells.Metabolites · 2022Article
- A distinct lipid metabolism signature of acute myeloid leukemia with prognostic value.Frontiers in oncology · 2022Article
Corrections and comments
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Authors and funding
1 author.
Funding
Abstract
Patatin-like phospholipase domain-containing protein 6 (PNPLA6), originally called Neuropathy Target Esterase (NTE), belongs to a family of hydrolases with at least eight members in mammals. PNPLA6/NTE was first identified as a key factor in Organophosphate-induced delayed neuropathy, a degenerative syndrome that occurs after exposure to organophosphates found in pesticides and nerve agents. More recently, mutations in PNPLA6/NTE have been linked with a number of inherited diseases with diverse clinical symptoms that include spastic paraplegia, ataxia, and chorioretinal dystrophy. A conditional knockout of PNPLA6/NTE in the mouse brain results in age-related neurodegeneration, whereas a complete knockout causes lethality during embryogenesis due to defects in the development of the placenta. PNPLA6/NTE is an evolutionarily conserved protein that in
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