ADPRHL2
- Known as:
- ADPRHL2
- Catalog number:
- 001236A
- Product Quantity:
- 250ul
- Category:
- -
- Supplier:
- ABM
- Gene target:
- ADPRHL2
Related genes to: ADPRHL2
- Gene:
- ADPRHL2 NIH gene
- Name:
- ADP-ribosylhydrolase like 2
- Previous symbol:
- -
- Synonyms:
- ARH3, FLJ20446
- Chromosome:
- 1p34.3
- Locus Type:
- gene with protein product
- Date approved:
- 2003-06-19
- Date modifiied:
- 2016-06-02
Related products to: ADPRHL2
Related articles to: ADPRHL2
- ADP-ribosylation is a post-translational modification critical for DNA repair, chromatin remodeling, and cellular stress responses. The enzyme ARH3/ADPRHL2 (encoded by the gene) is a member of the ADP-ribosyl-acceptor hydrolase family and plays a pivotal role in the removal of mono-ADP-ribosylation, particularly in response to DNA damage. Variants in the gene cause (CONDSIAS). Here, we present the case of an 11-year-old Brazilian girl with compound heterozygous variants in , including a novel missense variant, c.485T>C; p.Leu162Pro, of unknown clinical significance. This study aimed to determine the pathogenicity of this variant and to test the molecular rationale of using minocycline as a therapeutic strategy for CONDSIAS cases. - Source: PubMed
Publication date: 2026/04/17
de Mattos Priscilla Doriade Moura Rafael DiasBertolino Murilo FígaroValente Penélope FerreiraMatos Isaac AraujoCaldas Vitor MarquesLobao Cunha Paulo EmidioKok FernandoHoch Nicolas Carlos - Type 1 diabetes (T1D) results from the autoimmune destruction of the insulin-producing β cells of the pancreas. Omega-3 fatty acids protect β cells and reduce the incidence of T1D, but the mechanism is poorly understood. We have shown that omega-3 fatty acids reduce pro-inflammatory cytokine-mediated β-cell apoptosis by upregulating the expression of the ADP-ribosylhydrolase ARH3. Here, we further investigate the β-cell protection mechanism of ARH3 by performing siRNA analysis of its gene Adprhl2 in MIN6 insulin-producing cells, subsequent treatment with a cocktail of the pro-inflammatory cytokines IL-1β + IFN-γ + TNF-α, followed by proteomics analysis. ARH3 regulated proteins from several pathways related to the nucleus (splicing, RNA surveillance, and nucleocytoplasmic transport), mitochondria (metabolic pathways), and endoplasmic reticulum (protein folding). ARH3 also regulated the levels of proteins related to antigen processing and presentation, and the chemokine-signaling pathway. We further studied the role of ARH3 in regulating the chemokine CXCL9. We found that ARH3 reduces the cytokine-induced expression of CXCL9, which is dependent on omega-3 fatty acids. In conclusion, we demonstrate that omega-3 fatty acids regulate CXCL9 expression via ARH3, which may have a role in protecting β cells from immune attack thereby preventing T1D development. Significance of the Study: Omega-3 fatty acids have a variety of health benefits. In type 1 diabetes, omega-3 fatty acids reduce the islet autoimmune response and the disease development. Here, we studied the pathways regulated by the adenosine diphosphate (ADP)-ribosylhydrolase ARH3, a protein whose expression is regulated by omega-3 fatty acids. We showed that ARH3 reduces the expression of chemokines in response to omega-3 fatty acids. This represents an anti-inflammatory mechanism of omega-3 fatty acids that might be involved with protection against type 1 diabetes development. - Source: PubMed
Publication date: 2024/12/08
You YoungkiSarkar SoumyadeepDeiter CailinElliott Emily CNicora Carrie DMirmira Raghavendra GSussel LoriNakayasu Ernesto S - - Source: PubMed
Publication date: 2024/10/17
Eslamiyeh HoseinVahidi Mehrjardi Mohammad YahyaPoursalehi NegarehDehghan Tezerjani Masoud - Adprhl2 (OMIM: 610624) mutation associated stress-induced childhood-onset neurodegeneration with variable ataxia and seizures (CONDSIAS, OMIM: 618170) is a sporadic neurodegenerative disease with poor prognosis. encodes ADP-ribosylhydrolase 3 (ARH3), which participates in ADP-ribosylation to remove poly-ADP ribose (PAR). We found a new compound heterozygous mutation in the gene c.580C > T (p.Gln194Ter) and c.803-1G > A in a 30-month-old boy, who showed gait instability, abnormal EEG, and developmental delay after respiratory infection. He died of convulsions 4 months after onset. By constructing a mutant plasmid and using Western blot to detect the expression of ARH3 and PAR, it was demonstrated that the gene c.580C > T (p.Gln194Ter) and c.803-1G > A is pathogenic according to ACMG guidelines. - Source: PubMed
Publication date: 2024/06/27
Yan ShuangRen JieSu HongtingMa JiehuiHe WeijieCai XiaofangSun Dan - is involved in posttranslational modification and is known to have a role in physiological functions such as cell signaling, DNA repair, gene control, cell death, and response to stress. Recently, a group of neurological disorders due to variants is described, characterized by childhood-onset, stress-induced variable movement disorders, neuropathy, seizures, and neurodegenerative course. We present the diagnostic pathway of two pediatric patients with episodic dystonia and ataxia, who later had a neurodegenerative course complicated by central hypoventilation syndrome due to the same homozygous variant. We conducted a systematic literature search and data extraction procedure following the Preferred Reporting Items for Systematic Review and Meta-Analysis 2020 statement in terms of patients with variants, from 2018 up to 3 February, 2023. In total, 12 articles describing 47 patients were included in the final analysis. Median age at symptom onset was 2 (0.7-25) years, with the most common presenting symptoms being gait problems ( = 19, 40.4%), seizures ( = 16, 34%), ataxia ( = 13, 27.6%), and weakness ( = 10, 21.2%). Triggering factors (28/47; 59.5%) and regression (28/43; 60.4%), axonal polyneuropathy (9/23; 39.1%), and cerebral and cerebellar atrophy with white matter changes (28/36; 77.7%) were the other clues. The fatality rate and median age of death were 44.6% ( = 21) and 7 (2-34) years, respectively. variants should be considered in the context of episodic, stress-induced pediatric and adult-onset movement disorders and seizures. - Source: PubMed
Publication date: 2024/02/16
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