Ask about this productRelated genes to: PSD3 Blocking Peptide
- Gene:
- PSD3 NIH gene
- Name:
- pleckstrin and Sec7 domain containing 3
- Previous symbol:
- -
- Synonyms:
- KIAA0942, HCA67, EFA6R, DKFZp761K1423, EFA6D
- Chromosome:
- 8p22
- Locus Type:
- gene with protein product
- Date approved:
- 2004-07-06
- Date modifiied:
- 2016-10-05
Related products to: PSD3 Blocking Peptide
Related articles to: PSD3 Blocking Peptide
- Novel Kinase 1 encodes a serine-threonine protein kinase, mutations in which are associated with autism spectrum disorder. Direct phosphorylation targets of NUAK1 have been elusive hindering mechanistic understanding of its role in brain development. Here, we characterize autism-associated NUAK1 variants and show their differential impact on catalytic activity and subcellular distribution. We engineered ATP-analog sensitive NUAK1 and utilized its specificity towards bulky analogs to identify over 30 hitherto unknown direct phosphorylation targets of NUAK1. We demonstrate that Pleckstrin Homology and Sec7-domain containing protein 3 (PSD3) is a phosphorylation target of NUAK1. A guanine exchange factor (GEF) for ARF6 GTPase, PSD3 is phosphorylated by NUAK1 at S476. Expression of phosphodeficient PSD3 leads to aberrant activation of ARF6 and generation of PI(4,5)P that accumulates in intracellular vesicles. In neurons, phosphomutant PSD3 leads to enhanced spine maturation in an ARF6 dependent fashion. This study reveals direct neuronal substrates of an autism risk gene NUAK1, and delineates a mechanism by which PSD3 phosphorylation regulates ARF6 activation and spine maturation. - Source: PubMed
Publication date: 2026/04/20
Sejd Josilyn RMarciniak Daphnée MCornell Moira ASondhi AngelOng Shao-EnYadav Smita - Exposure to natural environments is thought to benefit mental and physical health, but current evidence is mixed, and underlying mechanisms remain unclear. Considering the joint biodiversity, climate, and health crises, a better understanding of the interplay between individuals and their environment is imperative. This study aimed to (1) identify Body Mass Index (BMI) trajectories in the Scania Public Health Cohort (SPHC), (2) characterise trajectories in terms of sociodemographics, lifestyle, health and living environments, (3) study the associations between natural dimensions of residential environment and BMI trajectories. The SPHC was established in southern Sweden in 2000. Participants ( = 13 581 at baseline, 18–80 years old) responded to four surveys (2000–2016), including sociodemographic, lifestyle and health questions. Residential coordinates were linked to the Scania outdoor Environment Database, which comprised perceived sensory dimensions of residential areas, eight dimensions of the outdoor environment that have previously been identified as important to support people’s health. An adapted version of the Perceived Sensory Dimension Score (PSD3-score) was computed by summing up three dimensions related to the natural environment. Sex-specific BMI trajectories, identified using group-based trajectory modelling, were compared using adjusted multinomial regression. Five BMI trajectories were identified with similar shapes in men and women. Two trajectories started in the normal/overweight categories and were relatively stable over time, while the other three were close to or above the commonly used threshold for obesity. Overall, more favourable socioeconomic and lifestyle factors were observed within non-obese trajectories. The PSD3-score varied geographically across Scania, but for the selected environmental characteristics, little differences were observed in relation to BMI trajectories. For this population, our findings suggest that lifestyle and socioeconomic factors are more important than outdoor environment features for the long-term bodyweight and obesity development. - Source: PubMed
Publication date: 2026/04/17
Rebouillat PaulineMattisson KristofferGefenaite GiedreÖstergren Per-OlofNilsson Peter MBjörk Jonas - BACKGROUNDMetabolic dysfunction-associated steatotic liver disease (MASLD) has a substantial inherited component. Rare variants in apolipoprotein B gene (APOB) have been implicated in susceptibility to liver steatosis, but their role in disease progression and outcomes is unclear.METHODSWe investigated APOB rare variants in a case-control cohort of people with advanced MASLD versus healthy controls (n = 510 and 261, respectively), a family-based study (n = 43 and literature meta-analysis), the Million Veteran Program (MVP) cohort (n = 94,885), and the UK Biobank (UKBB) (n = 417,657).RESULTSIn the clinical cohort, APOB variants were enriched in people with advanced MASLD (OR 13.8, 95% CI: 2.7-70.7, P = 0.002) and associated with lower circulating lipids, but higher MASLD activity and fibrosis (P < 0.05). In the family study, APOB variants segregated with hepatic steatosis and fibrosis (P < 0.05). Cross-ancestry meta-analysis of the study cohorts yielded pooled ORs for cirrhosis and hepatocellular carcinoma (HCC) of 1.82, 95% CI: 1.33-2.49 and 3.53, 95% CI: 2.09-5.98, respectively. Variants affecting specifically ApoB100 had a 3-fold greater effect on hepatic lipid metabolism compared with those impairing also ApoB48 and were specifically protective against coronary artery disease (P < 0.05). The variants affected cirrhosis risk similarly, but ApoB48/100 had a larger effect on HCC (P < 0.05).CONCLUSIONSRare APOB variants predispose individuals to advanced MASLD and HCC, with distinct contributions from disrupted VLDL and chylomicrons secretion. These findings highlight the interplay between hepatic and intestinal lipid handling, suggesting that APOB genotyping may enhance MASLD risk stratification and patient identification.FUNDINGEuropean Union, Italian Ministry of Health, Swedish Research Council, Veterans Health Administration, NIH. - Source: PubMed
Publication date: 2026/02/10
Mureddu MatteoPelusi SerenaJamialahmadi OveisVujkovic MarijanaMiano LorenzoEidgah Torghabehei HadiRonzoni LuisaMalvestiti FrancescoSaracino MarcoPeriti GiuliaMoretti VittoriaTeerlink Craig CLynch Julie ATsao Philip SJohnson Josephine PLa Mura VincenzoDilena RobertinoAlqahtani Saleh ACherubini Alessandro Russo Francesco PaoloD'Ambrosio RobertaFraquelli MirellaPetta SalvatoreMiele LucaVespasiani-Gentilucci UmbertoBugianesi ElisabettaMancina Rosellina MParini PaoloPrati DanieleChang Kyong-MiSchneider Carolin VRomeo StefanoValenti Luca Vc - Hepatocellular carcinoma (HCC) is one of the leading causes of cancer-related mortality worldwide and is driven by metabolic reprogramming that supports tumor growth and progression. A common missense genetic variant (rs2642438, p.A165T) in mitochondrial amidoxime reducing component 1 (MTARC1), identified as protective against liver disease, has been recently associated with lower prevalence of steatosis, cirrhosis, and HCC. However, the mechanistic role of MTARC1 in HCC is unclear. Therefore, we sought to decipher the role of MTARC1 in HCC. - Source: PubMed
Publication date: 2026/02/05
Kovooru LohiteshZhang JingjingMonni Francesco GiuseppeDutta TanmoyGongye XiangdongAsiedu BerniceInfelise PatriziaBarreby EmelieJamialahmadi OveisMahlapuu MargitMancina Rosellina MRomeo Stefano - - Source: PubMed
Publication date: 2025/11/15
Romeo Stefano