Ask about this productRelated genes to: GBAS antibody
- Gene:
- NIPSNAP2 NIH gene
- Name:
- nipsnap homolog 2
- Previous symbol:
- GBAS
- Synonyms:
- -
- Chromosome:
- 7p11.2
- Locus Type:
- gene with protein product
- Date approved:
- 1997-10-30
- Date modifiied:
- 2017-03-16
Related products to: GBAS antibody
Related articles to: GBAS antibody
- Dysregulation of autophagy and mitophagy is a hallmark of neurodegenerative diseases, including Alzheimer's disease (AD). Chemical intervention targeting these pathways has emerged as one of the promising therapeutic strategies for neurodegenerative disorders. Here, we identified beauvericin as a candidate molecule that regulates autophagy and mitophagy through an organelle phenotypes-based high-throughput screening of a marine natural products library. Mechanistic analyses revealed that beauvericin engages NIPSNAP2 and promotes its activation, and enhances autophagic flux and mitophagy across multiple cell types. Moreover, in AD-relevant cellular models, beauvericin significantly reduced amyloid-β (Aβ) levels via lysosome-dependent degradation of BACE1. Collectively, these findings demonstrate that beauvericin activates autophagy and mitophagy via NIPSNAP2 and that chemical activation of these pathways can ameliorate AD-relevant cellular phenotypes, supporting its potential as a chemical intervention for neurodegenerative diseases. - Source: PubMed
Publication date: 2026/04/19
Zhao XueZhang RuihanMa YihanYu TingLi JiaoLiu AndiHu JunchiWu JiaxueZhang LingYe MingliangWu BinDang Yongjun - Mitochondrial dysfunction is a hallmark of aging and has been implicated in aging-related diseases. NIPSNAP1 and NIPSNAP2 are functionally redundant homologs involved in mitochondrial quality control, yet their roles in healthy aging and longevity remain unclear. Here, we generated a Nipsnap1/2 double knockout (DKO) mouse line and examined its impacts on mitochondrial physiology and natural aging. We demonstrated that the loss of Nipsnap1/2 impaired mitochondrial function and enhanced glycolysis activity, but it did not affect mitophagy despite the significant accumulation of Parkin. Compared with wild-type mice, DKO mice exhibited reduced body weight, deteriorated muscle strength, and pronounced fragility at 24 months of age. Moreover, Nipsnap1/2 depletion exacerbates aging-associated fibrosis and inflammation in the heart, liver and kidney. RNA-seq revealed a pro-aging transcriptome reprogramming toward energy exhaustion in DKO mice, eventually leading to cachexia-like adverse metabolic remodeling. Our findings demonstrate an anti-aging role of NIPSNAP1/2 via the surveillance of mitochondrial health. - Source: PubMed
Publication date: 2025/06/13
Lv JianWang JunmeiChen QinZhong QianhuaZhan HongchaoGuo QiuxiaoLi JiajieGuo NingningFang YuTong JingjingWang Zhihua - Cataract is the leading cause of blindness among the elderly worldwide. Twin and family studies support an important role for genetic factors in cataract susceptibility with heritability estimates up to 58%. To date, 55 loci for cataract have been identified by genome-wide association studies (GWAS), however, much work remains to identify the causal genes. Here, we conducted a transcriptome-wide association study (TWAS) of cataract to prioritize causal genes and identify novel ones, and examine the impact of their expression. - Source: PubMed
Publication date: 2024/04/16
Choquet HélèneDuot MatthieuHerrera Victor AShrestha Sanjaya KMeyers Travis JHoffmann Thomas JSangani Poorab KLachke Salil A - Autophagy is essential for proteostasis, energetic balance, and cell defense and is a key pathway in aging. Identifying associations between autophagy gene expression patterns in skeletal muscle and physical performance outcomes would further our knowledge of mechanisms related with proteostasis and healthy aging. Muscle biopsies were obtained from participants in the Study of Muscle, Mobility, and Aging (SOMMA). For 575 participants, RNA was sequenced and expression of 281 genes related to autophagy regulation, mitophagy, and mTOR/upstream pathways was determined. Associations between gene expression and outcomes including mitochondrial respiration in muscle fiber bundles (MAX OXPHOS), physical performance (VO peak, 400 m walking speed, and leg power), and thigh muscle volume, were determined using negative binomial regression models. For autophagy, key transcriptional regulators including TFE3 and NFKB-related genes (RELA, RELB, and NFKB1) were negatively associated with outcomes. On the contrary, regulators of oxidative metabolism that also promote overall autophagy, mitophagy, and pexophagy (PPARGC1A, PPARA, and EPAS1) were positively associated with multiple outcomes. In line with this, several mitophagy, fusion, and fission-related genes (NIPSNAP2, DNM1L, and OPA1) were also positively associated with outcomes. For mTOR pathway and related genes, expression of WDR59 and WDR24, both subunits of GATOR2 complex (an indirect inhibitor of mTORC1), and PRKAG3, which is a regulatory subunit of AMPK, were negatively correlated with multiple outcomes. Our study identifies autophagy and selective autophagy such as mitophagy gene expression patterns in human skeletal muscle related to physical performance, muscle volume, and mitochondrial function in older persons which may lead to target identification to preserve mobility and independence. - Source: PubMed
Publication date: 2024/04/16
Coen Paul MHuo ZhiguangTranah Gregory JBarnes Haley NZhang XipingWolff Christopher AWu KevinCawthon Peggy MHepple Russell TToledo Frederico G SEvans Daniel SSantiago-Fernández OlayaCuervo Ana MariaKritchevsky Stephen BNewman Anne BCummings Steven REsser Karyn A - Autophagy is an essential component of proteostasis and a key pathway in aging. Identifying associations between autophagy gene expression patterns in skeletal muscle and physical performance outcomes would further our knowledge of mechanisms related with proteostasis and healthy aging. Muscle biopsies were obtained from participants in the Study of Muscle, Mobility and Aging (SOMMA). For 575 participants, RNA was sequenced and expression of 281 genes related to autophagy regulation, mitophagy and mTOR/upstream pathways were determined. Associations between gene expression and outcomes including mitochondrial respiration in muscle fiber bundles (MAX OXPHOS), physical performance (VO peak, 400m walking speed, and leg power), and thigh muscle volume were determined using negative binomial regression models. For autophagy, key transcriptional regulators including TFE3 and NFKB-related genes (RELA, RELB, NFKB1) were negatively associated with outcomes. On the contrary, regulators of oxidative metabolism that also promote overall autophagy, mitophagy and pexophagy (PPARGC1A, PPARA, EPAS1) were positively associated with multiple outcomes. In line with this, several mitophagy, fusion and fission related genes (NIPSNAP2, DNM1L, OPA1) were also positively associated with outcomes. For mTOR pathway and related genes, expression of WDR59 and WDR24, both subunits of GATOR2 complex (an indirect inhibitor of mTORC1) and PRKAG3, which is a regulatory subunit of AMPK, were negatively correlated with multiple outcomes. Our study identifies autophagy and selective autophagy such as mitophagy gene expression patterns in human skeletal muscle related to physical performance, muscle volume and mitochondrial function in older persons which may lead to target identification to preserve mobility and independence. - Source: PubMed
Publication date: 2023/11/05
Coen Paul MHuo ZhiguangTranah Gregory JBarnes Haley NCawthon Peggy MHepple Russell TToledo Frederico G SEvans Daniel SFernández Olaya SantiagoCuervo Ana MariaKritchevsky Steven BNewman Anne BCummings Steven REsser Karyn A