PNPLA6 antibody (FITC)
- Known as:
- PNPLA6 (anti-) (fluorecein)
- Catalog number:
- orb103249
- Product Quantity:
- 100 ug
- Category:
- -
- Supplier:
- Biorb
- Gene target:
- PNPLA6 antibody (FITC)
Related genes to: PNPLA6 antibody (FITC)
- Gene:
- PNPLA6 NIH gene
- Name:
- patatin like phospholipase domain containing 6
- Previous symbol:
- -
- Synonyms:
- NTE, sws, iPLA2delta, SPG39
- Chromosome:
- 19p13.2
- Locus Type:
- gene with protein product
- Date approved:
- 2006-07-05
- Date modifiied:
- 2015-11-23
Related products to: PNPLA6 antibody (FITC)
Related articles to: PNPLA6 antibody (FITC)
- Dysregulation of lipid metabolism plays a key role in diabetes mellitus (DM). Phosphatidylethanolamine (PE) and its metabolites, lysophosphatidylethanolamine (LPE) and glycerophosphorylethanolamine (GPE), are involved in cell signaling and mitochondrial homeostasis. Disruption of PE metabolism is associated with insulin sensitivity and mitochondrial dysfunction. However, the mechanism underlying alterations in PE metabolites, especially LPE, in DM remains unclear. - Source: PubMed
Publication date: 2026/07/07
Inoue NaoHo Hsin-JungB Gowda Siddabasave GowdaWu Xun-ZhiEguchi MikiMasamura-Takeuchi MinatoChiba HitoshiHui Shu-Ping - Boucher-Neuhäuser syndrome (BNS) is a rare autosomal recessive neurodegenerative disorder caused by PNPLA6 variants, characterized by cerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal degeneration. Although cerebellar atrophy is well documented, specific neuroimaging markers remain limited. We aimed to characterize magnetic resonance imaging findings, particularly corpus callosum abnormalities and their association with disease duration. METHODS: We retrospectively analyzed brain MRI from four participants with BNS (two genetically confirmed, two clinically diagnosed) at our institution using 1.5T or 3T scanners with T1-weighted, T2-weighted, fluid-attenuated inversion recovery (FLAIR), and diffusion-weighted imaging sequences. A literature review identified 16 evaluable cases from 14 studies. Cases with multiple sequences were compared descriptively; exploratory Mann-Whitney U tests included single-sequence literature cases. - Source: PubMed
Publication date: 2026/07/11
Morita YuichiNakaya MotoKurokawa RyoNakata YasuhiroSakamoto AtsukoTobisawa ShinsukeHayashi KentaroAbe Osamu - Organophosphates (OPs) cause acute cholinergic toxicity, oxidative stress, DNA damage, and delayed axonopathy through neuropathy target esterase (NTE) inhibition. Efficient models capturing this toxicity spectrum are essential for risk assessment and therapeutic discovery. Here, we review as a versatile platform for OP toxicology across: (1) wild-type assays using dietary and vapour exposures with behavioural endpoints (survival, locomotion, negative geotaxis) and biochemical markers (acetylcholinesterase activity, oxidative stress indices); (2) genotoxicity assessment via the Somatic Mutation and Recombination Test (SMART) and comet assay; and (3) the () mutant model - the ortholog of human PNPLA6/NTE - enabling investigation of organophosphate-induced delayed neuropathy (OPIDN) independent of cholinergic effects. Together, these approaches provide hazard characterization and support discovery of protective strategies targeting both cholinergic and non-cholinergic pathways. - Source: PubMed
Publication date: 2026/06/27
Tkachuk MartaMatiytsiv Nataliya - Functional changes in (Patatin-like phospholipase domain-containing protein 6), caused by gene mutations or inhibition by organophosphates, affect the levels of various phospholipids. In humans, this leads to organophosphorus compound-induced delayed neurotoxicity syndrome (OPIDN) and a number of rare diseases. In this study, we analyze the role of the gene (), an ortholog of , in spermatogenesis in . We report that the mutation affects membrane remodeling during spermatid individualization, as well as spermatid coiling during the late stages of spermatogenesis. In addition, the mutation leads to changes in the transcriptome in the testes of flies. We also demonstrate that is required for the proper functioning of important biological barriers in . - Source: PubMed
Publication date: 2026/06/17
Ryabova Elena VIvanova Ekaterina AKomissarov Artem EBolobolova Elena UDorogova Natalia VSlepneva Elizaveta ELatypova Evgenia MOgneva Irina VSarantseva Svetlana V - PNPLA6 is a conserved lysophospholipase essential for maintaining nervous system integrity. Biallelic mutations in have been identified in individuals with a broad spectrum of disorders that can include ataxia, vision loss, and pituitary hormone deficiency. Here, we report the identification of novel compound heterozygous variants in (p.T1115P and p.Pro1142_Ala1143ins14) in a 10-year-old girl with combined pituitary hormone deficiency, including growth hormone, thyroid-stimulating hormone, and gonadotropins. She also has vision loss and neurodevelopmental delay. Functional validation demonstrates that both variants, a missense substitution affecting a highly conserved residue within the catalytic domain and an intronic variant generating a novel splice acceptor site, completely abolish NTE activity, establishing their pathogenicity. Little is known about the cause of hypopituitarism in individuals with deficiency. Here, we report the cell-type-specific expression of PNPLA6 in mouse pituitary development and in adult animals. PNPLA6 is expressed broadly in SOX2+ stem cells within the pituitary primordium as early as e10.5, prior to lineage specification, suggesting a role in progenitor maintenance and early differentiation. In neonates and adults, expression predominates in the cells that produce growth hormone and pro-opiomelanocortin. These findings suggest that PNPLA6 could influence pituitary development at early stages, as well as contribute to the altered function of hormone-secreting cells. - Source: PubMed
Publication date: 2026/06/19
Vishnopolska SebastianLiu JamesCamilletti Maria AndreaMayer Julian MartinezGarcia Lucia IglesiasBrinkmeier MichelleVaiani ElisaVidal Sofia HebeCiaccio MartaDi Palma María IsabelBelgorosky AliciaMarti MarceloHufnagel Robert BCamper Sally APerez-Millan Maria Ines