Arpp21 Antibody
- Known as:
- Arpp21 Antibody
- Catalog number:
- GWB-MN979G
- Product Quantity:
- 50ug
- Category:
- -
- Supplier:
- GenWay
- Gene target:
- Arpp21 Antibody
Related genes to: Arpp21 Antibody
- Gene:
- ARPP21 NIH gene
- Name:
- cAMP regulated phosphoprotein 21
- Previous symbol:
- -
- Synonyms:
- ARPP-21, TARPP, R3HDM3
- Chromosome:
- 3p22.3
- Locus Type:
- gene with protein product
- Date approved:
- 2010-08-12
- Date modifiied:
- 2016-10-05
Related products to: Arpp21 Antibody
Related articles to: Arpp21 Antibody
- ARPP21 has recently emerged as a new amyotrophic lateral sclerosis (ALS) associated gene but its pathogenic role remains unclear. In this study we performed familial, clinical, neuropathological and cellular analyses to characterize the recurrent p.P529L and p.P713L variants (also known as p.P563L variant and p.P747L variant, respectively) in our French ALS cohort of 1190 ALS cases and 50 additional family members available for segregation analysis, resulting in the description of 29 ARPP21-linked patients. ARPP21 emerged as the most frequent rare ALS-associated gene in France after exclusion of the four major ALS genes, accounting for 2.7% of familial cases (fALS) and 0.1% of sporadic cases. Age-dependent penetrance reached 45% by age 50 and increased only modestly thereafter, remaining incomplete even at advanced ages. In cellular models, the p.P713L mutant showed aggregation associated with protein hyperphosphorylation and colocalization with the autophagic marker p62. Neuropathological examination of tissue from a p.P529L carrier revealed typical cytoplasmic TDP-43 pathology, together with heterogeneous ARPP21-positive deposits. As ARPP21 antibody also stained granulovacuolar degenerations, ARPP21-positive deposits may reflect neuronal stress rather than mutant ARPP21-specific pathology. Nevertheless, together with previous studies, our findings support ARPP21 as an important ALS-associated gene, and indicate that both p.P529L/p.P563L and p.P713L/p.P747L should be considered pathogenic ALS-causing variants. Incorporating ARPP21 into the routine genetic testing panels for fALS could improve diagnostic yield. - Source: PubMed
Publication date: 2026/09/04
de Bertier SibylleAmador Maria-Del-MarGuissart ClaireMiki TomokoBoillée SéverineLobsiger Christian SBohl DelphineFauret-Amsellem Anne-LaureBohic Adrien Giguet-Valard Anna-GaelleBellance RémiBeauvais KatellMeininger VincentBruneteau GaelleSalachas FrançoisVial ChristopheCamu WilliamEsselin Florencede la Cruz ElisaBernard EmilienSeilhean DanielleMillecamps Stéphanie - Pain-related conditions are the leading cause of disability worldwide. Existing GWAS for chronic pain have mainly focused on individual pain-related disorders, which may not optimally capture the phenotype. Here, we define chronic pain based on prescription analgesic use ( ≥ 90 days) in two large biobanks (UK Biobank and FinnGen). GWAS meta-analyses of 11 prescription-based pain phenotypes identify 140 associations with chronic pain, including 78 novel (e.g. ARPP21, CNTNAP2) and 62 previously reported (e.g. SLC39A8, DCC, TRPM8) associations. Integrating these genetic associations with functional data including transcriptome-wide association studies, cell-type and pathway enrichment, and gene enrichment in mouse phenotypes identifies potential mechanisms involved in chronic pain, implicating oligodendrocyte differentiation, neuronal guidance, endolysosomal function and post-synaptic endosome recycling. Our study showcases how the use of prescription data to identify and characterize pain can provide insights into pain genetics and its underlying biology. - Source: PubMed
Publication date: 2026/05/28
Harlow Charli EUzochukwu EmekaFernando Hazel AMordaunt Charles EHughey Jordan MEicher John DRobinson LaraBowker NicholasHowe LaurenceLiu JimmyCortes AdrianWilson PaulGungabissoon UshaBenson Victoria SNash AnthonyYoung GarethAddis LauraXu Chun-FangWebber CalebDavitte JonathanCader M Zameel - Amyotrophic lateral sclerosis (ALS) is a heritable disorder where rare variants with low-to-moderate penetrance are thought to dominate genetic risk. To identify such rare variants, we harmonized and analyzed exome data from 22 cohorts, totaling 17,919 individuals with ALS and 200,703 controls across discovery and replication phases. Rare variant analyses identified several new risk genes, with replication confirming association of YKT6 and supporting HTR3C, GBGT1 and KNTC1. We also provide strong, independent validation for genes with limited previous evidence: ARPP21, DNAJC7 and CFAP410. Notably, in ARPP21, we identified a new high-effect variant (p.P747L) and confirmed that p.P563L is an ALS-associated variant leading to an aggressive disease course. Beyond new discoveries, our analyses largely recapitulated the known genetic architecture of ALS, identifying risk variants in over 20% of cases and supporting a cumulative oligogenic risk model. These findings highlight new translational targets and show that rare variant analyses capture substantially more genetic risk than common variant genome-wide association studies. - Source: PubMed
Publication date: 2026/03/31
Hop Paul JKooyman MaartenKenna Brendan JZwamborn Ramona A Jvan Eijk Kristel RWang Yanvan Dijk Charlotte HBekema Erwinvan Rheenen WouterBeele Paulvan Vugt Joke J F A Khleifat Ahmad AlIacoangeli AlfredoCooper-Knock JohnathanSmith Bradley NTopp Simonvan der Kooi Anneke JFominykh VeraDrory VivianLerner YossefShovman YehudaRowe Dominic BWilliams Kelly LMcLaughlin Russell LHurt JessicaHuang YunfengChen Chia-YenTsai EllenRunz HeikoAronica EleonoraGroen Ewout J Nvan Es Michael APasterkamp R JeroenFarhan Sali M KGarton Fleur CMcRae Allan FMcCombe Pamela AHenderson Robert DFan DongshengŠlachtová LenkaHøyer HelleNishimura Agnes LCauchi Ruben JBrylev LevRogelj BorisKoritnik BlažZidar JanezSalas TeresaMora Pardina Jesus SGotkine MarcPovedano MonicaCorcia PhilippeVourc'h PatrickCouratier PhilippeWeber MarkusKiernan Matthew CPamphlett RogerBlair Ian Pde Carvalho MamedeBaşak Nazli AIngre CarolineAndersen Peter MZinman LorneRogaeva EkaterinaMacKenzie Ian RDupre NicolasRouleau Guy ATraynor Bryan JTicozzi NicolaChiò AdrianoSilani VincenzoHardiman OrlaPhatnani HemaliHarms Matthew BDalgard Clifton LGlass Jonathan DLanders John EVan Damme PhilipMorrison Karen EShaw Pamela JShaw Chris EAl-Chalabi Ammarvan den Berg Leonard HKenna Kevin PVeldink Jan H - Aging affects gene expression in pathways essential for energy metabolism, DNA repair, cell cycle regulation, and antioxidant defenses, directly affecting oocyte quality and viability. Single-cell RNA deep sequencing studies of aged versus young human MII oocytes revealed many differentially expressed genes. In addition, single human oocyte transcriptome analysis at both germinal vesicle (GV) and MII stages revealed distinct stage-dependent pathways impacted by aging, with a decrease in mitochondrial-related transcripts from GV to MII oocytes, and a much greater reduction in MII oocytes with advanced age. - Source: PubMed
Publication date: 2025/07/29
Orvieto RaoulNayshool OmriCohen LouisaYung YuvalAizer AdvaSaar Efrat GlickDominissini Dan - Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disorder marked by the degeneration of motor neurons and progressive muscle weakness. Heredity plays an important part in the pathogenesis of ALS. Recently, with the emergence of the oligogenic pathogenic mechanism in ALS and the ongoing discovery of new mutated genes and genomic variants, there is an emerging need for larger-scale and more comprehensive genetic screenings in higher resolution. In this study, we performed whole-genome sequencing (WGS) on 34 familial ALS probands lacking the most common disease-causing mutations to explore the genetic landscape of Chinese ALS patients further. Among them, we identified a novel ARPP21 c.1231G > A (p.Glu411Lys) variant and two copy number variations (CNVs) affecting the PFN1 and RBCK1 genes in a patient with ALS-frontotemporal dementia (FTD). This marks the first report of an ARPP21 variant in Chinese ALS-FTD patients, providing fresh evidence for the association between ARPP21 and ALS. Our findings also underscore the potential role of CNVs in ALS-FTD, suggesting that the cumulative effect of multiple rare variants may contribute to disease onset. Furthermore, compared to the averages in our cohort and the reported Chinese ALS population, this patient displayed a shorter survival time and more rapid disease progression, suggesting the possibility of an oligogenic mechanism in disease pathogenesis. Further research will contribute to a deeper understanding of the rare mutations and their interactions, thus advancing our understanding of the genetic mechanisms underlying ALS and ALS-FTD. - Source: PubMed
Publication date: 2024/09/14
Wang YiyingJu RunqingJiang JingsiMao LeLi XiaogangDeng Min