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225 results

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Pathway-specific effects of ADSL deficiency on neurodevelopment.
Dutto I, Gerhards J, Herrera A, Souckova O, Škopová V, Smak JA, Junza A, Yanes O, Boeckx C, Burkhalter MD, Zikánová M, Pons S, Philipp M, Lüders J, Stracker TH. Dutto I, et al. Elife. 2022 Feb 8;11:e70518. doi: 10.7554/eLife.70518. Elife. 2022. PMID: 35133277 Free PMC article.
Adenylosuccinate lyase (ADSL) functions in de novo purine synthesis (DNPS) and the purine nucleotide cycle. ADSL deficiency (ADSLD) causes numerous neurodevelopmental pathologies, including microcephaly and autism spectrum disorder. ...ADSL-deficient chicken …
Adenylosuccinate lyase (ADSL) functions in de novo purine synthesis (DNPS) and the purine nucleotide cycle. ADSL deficiency (A …
Adenylosuccinate lyase is oncogenic in colorectal cancer by causing mitochondrial dysfunction and independent activation of NRF2 and mTOR-MYC-axis.
Taha-Mehlitz S, Bianco G, Coto-Llerena M, Kancherla V, Bantug GR, Gallon J, Ercan C, Panebianco F, Eppenberger-Castori S, von Strauss M, Staubli S, Bolli M, Peterli R, Matter MS, Terracciano LM, von Flüe M, Ng CKY, Soysal SD, Kollmar O, Piscuoglio S. Taha-Mehlitz S, et al. Theranostics. 2021 Feb 15;11(9):4011-4029. doi: 10.7150/thno.50051. eCollection 2021. Theranostics. 2021. PMID: 33754045 Free PMC article.
Rationale: Adenylosuccinate lyase (ADSL) is an essential enzyme for de novo purine biosynthesis. Here we sought to investigate the putative role of ADSL in colorectal carcinoma (CRC) carcinogenesis and response to antimetabolites. ...ADSL-high CRCs show upreg …
Rationale: Adenylosuccinate lyase (ADSL) is an essential enzyme for de novo purine biosynthesis. Here we sought to investigate the pu …
ADSL Deficiency - The Lesser-Known Metabolic Epilepsy in Infancy.
Banerjee A, Bhatia V, Didwal G, Singh AK, Saini AG. Banerjee A, et al. Indian J Pediatr. 2021 Mar;88(3):263-265. doi: 10.1007/s12098-020-03435-4. Epub 2020 Jul 18. Indian J Pediatr. 2021. PMID: 32681428
The authors describe a 13-mo-old girl with compound heterozygous variants in the ADSL gene, presenting as early-onset seizures, severe neurological impairment, development delay, and hypotonia. Neuroimaging revealed cerebral atrophy, delayed myelination and diffusion restr …
The authors describe a 13-mo-old girl with compound heterozygous variants in the ADSL gene, presenting as early-onset seizures, sever …
Silencing of Dicer enhances dacarbazine resistance in melanoma cells by inhibiting ADSL expression.
Yeh YW, Hsu TW, Su YH, Wang CH, Liao PH, Chiu CF, Tseng PC, Chen TM, Lee WR, Tzeng YS. Yeh YW, et al. Aging (Albany NY). 2023 Nov 15;15(22):12873-12889. doi: 10.18632/aging.205207. Epub 2023 Nov 15. Aging (Albany NY). 2023. PMID: 37976135 Free PMC article.
Metabolic alterations in tumor cells may interfere with drug response. Adenylosuccinate lyase (ADSL) is a crucial enzyme in the purine metabolism pathway. An imbalance in ADSL may interfere with the therapeutic efficacy of drugs. We discovered that DTIC treatment en …
Metabolic alterations in tumor cells may interfere with drug response. Adenylosuccinate lyase (ADSL) is a crucial enzyme in the purin …
Polymorphisms and expressions of ADSL, MC4R and CAPN1 genes and their effects on economic traits in Egyptian chicken breeds.
Aboelhassan DM, Darwish HR, Mansour H, Abozaid H, Ghaly IS, Radwan HA, Hassan ER, Farag IM. Aboelhassan DM, et al. Mol Biol Rep. 2023 Dec 10;51(1):4. doi: 10.1007/s11033-023-08999-w. Mol Biol Rep. 2023. PMID: 38071695 Free PMC article.
Candidate genes such as adenylosuccinate lyase (ADSL), melanocortin-4-receptor (MC4R), and calpain 1 (CAPN1) have played vital roles in this context due to their associations with muscle growth and body composition. ...In conclusion, this investigation underscores the subs …
Candidate genes such as adenylosuccinate lyase (ADSL), melanocortin-4-receptor (MC4R), and calpain 1 (CAPN1) have played vital roles …
Carcinogenic effect of adenylosuccinate lyase (ADSL) in prostate cancer development and progression through the cell cycle pathway.
Liao J, Song Q, Li J, Du K, Chen Y, Zou C, Mo Z. Liao J, et al. Cancer Cell Int. 2021 Sep 6;21(1):467. doi: 10.1186/s12935-021-02174-6. Cancer Cell Int. 2021. PMID: 34488772 Free PMC article.
RNA sequencing and further western blot (WB) were applied to explore the potential mechanisms of ADSL gene in PCa. RESULTS: Based on PCa clinical datasets, we firstly found ADSL gene highly expressed in PCa tissues. Moreover, its transcript level increased in the me …
RNA sequencing and further western blot (WB) were applied to explore the potential mechanisms of ADSL gene in PCa. RESULTS: Based on …
Adenylosuccinate lyase deficiency.
Jurecka A, Zikanova M, Kmoch S, Tylki-Szymańska A. Jurecka A, et al. J Inherit Metab Dis. 2015 Mar;38(2):231-42. doi: 10.1007/s10545-014-9755-y. Epub 2014 Aug 12. J Inherit Metab Dis. 2015. PMID: 25112391 Free PMC article. Review.
Adenylosuccinate lyase ADSL) deficiency is a defect of purine metabolism affecting purinosome assembly and reducing metabolite fluxes through purine de novo synthesis and purine nucleotide recycling pathways. ...To date there is no specific and effective therapy for ADS …
Adenylosuccinate lyase ADSL) deficiency is a defect of purine metabolism affecting purinosome assembly and reducing metabolite fluxes …
Child with adenylosuccinate lyase deficiency caused by a novel complex heterozygous mutation in the ADSL gene: A case report.
Wang XC, Wang T, Liu RH, Jiang Y, Chen DD, Wang XY, Kong QX. Wang XC, et al. World J Clin Cases. 2022 Oct 26;10(30):11082-11089. doi: 10.12998/wjcc.v10.i30.11082. World J Clin Cases. 2022. PMID: 36338215 Free PMC article.
Considering the patient's clinical presentation and genetic test results, the complex heterozygous mutation was predicted to prevent both ADSL alleles from producing normal ADSL, which may have led to ADSL deficiency. Finally, the child was diagnosed with …
Considering the patient's clinical presentation and genetic test results, the complex heterozygous mutation was predicted to prevent both …
Toxoplasma gondii ADSL Knockout Provides Excellent Immune Protection against a Variety of Strains.
Wang L, Tang D, Yang C, Yang J, Fang R. Wang L, et al. Vaccines (Basel). 2020 Jan 6;8(1):16. doi: 10.3390/vaccines8010016. Vaccines (Basel). 2020. PMID: 31935935 Free PMC article.
In this study, we knocked out the adenylosuccinate lyase (ADSL) gene and found that the gene reduces the growth rate of T. gondii tachyzoites in vitro under standard growth conditions by plaque or replication experiments. ...The results of the present study showed that del …
In this study, we knocked out the adenylosuccinate lyase (ADSL) gene and found that the gene reduces the growth rate of T. gondii tac …
Reactivating PTEN to impair glioma stem cells by inhibiting cytosolic iron-sulfur assembly.
Yin J, Ge X, Ding F, He L, Song K, Shi Z, Ge Z, Zhang J, Ji J, Wang X, Zhao N, Shu C, Lin F, Wang Q, Zhou Q, Cao Y, Liu W, Ye D, Rich JN, Wang X, You Y, Qian X. Yin J, et al. Sci Transl Med. 2024 Mar 20;16(739):eadg5553. doi: 10.1126/scitranslmed.adg5553. Epub 2024 Mar 20. Sci Transl Med. 2024. PMID: 38507470
Isotope tracing coupled with mass spectrometry analysis confirmed that fumarate, generated by adenylosuccinate lyase (ADSL) in the de novo purine synthesis pathway that is highly activated in GSCs, promoted PTEN C211 succination. ...Functionally, inhibiting PTEN C211 succi …
Isotope tracing coupled with mass spectrometry analysis confirmed that fumarate, generated by adenylosuccinate lyase (ADSL) in the de …
225 results