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Asparagine synthetase: Function, structure, and role in disease.
Lomelino CL, Andring JT, McKenna R, Kilberg MS. Lomelino CL, et al. J Biol Chem. 2017 Dec 8;292(49):19952-19958. doi: 10.1074/jbc.R117.819060. Epub 2017 Oct 30. J Biol Chem. 2017. PMID: 29084849 Free PMC article. Review.
Asparagine synthetase (ASNS) converts aspartate and glutamine to asparagine and glutamate in an ATP-dependent reaction. ...Thus far, 15 unique mutations in the ASNS gene have been clinically associated with asparagine synthetase deficiency (ASD) …
Asparagine synthetase (ASNS) converts aspartate and glutamine to asparagine and glutamate in an ATP-dependent reaction. ...Thu …
Metabolomic Profiling of Asparagine Deprivation in Asparagine Synthetase Deficiency Patient-Derived Cells.
Chang MC, Staklinski SJ, Malut VR, Pierre GL, Kilberg MS, Merritt ME. Chang MC, et al. Nutrients. 2023 Apr 18;15(8):1938. doi: 10.3390/nu15081938. Nutrients. 2023. PMID: 37111157 Free PMC article.
Healthy cells can synthesize Asn through asparagine synthetase (ASNS) activity, whereas specific cancer and genetically diseased cells are forced to obtain asparagine from the extracellular environment. ASNS catalyzes the ATP-dependent synthesis of Asn from aspartat …
Healthy cells can synthesize Asn through asparagine synthetase (ASNS) activity, whereas specific cancer and genetically diseas …
Clinical, molecular, and biochemical delineation of asparagine synthetase deficiency in Saudi cohort.
Alharby E, Faqeih EA, Saleh M, Alameer S, Almuntashri M, Pastore A, Samman MA, Alnawfal AM, Hashem M, Zaytuni D, Alharbi G, Almannai M, Alasmari A, Mahmoud AA, Alwadei AH, Jad L, AlOtaibi A, Al-Hakami F, Eyaid W, Alkuraya FS, Alfadhel M, Peake RWA, Almontashiri NAM. Alharby E, et al. Genet Med. 2020 Dec;22(12):2071-2080. doi: 10.1038/s41436-020-0919-x. Epub 2020 Aug 3. Genet Med. 2020. PMID: 32741967 Free article.
PURPOSE: Asparagine synthetase deficiency (ASNSD) is a rare neurometabolic disease. Patients may not demonstrate low asparagine levels, which highlights the advantage of molecular over biochemical testing in the initial work-up of ASNSD. ...
PURPOSE: Asparagine synthetase deficiency (ASNSD) is a rare neurometabolic disease. Patients may not demonstrate low as …
Asparagine Synthetase Deficiency with Intracranial Hemorrhage Can Mimic Molybdenum Cofactor Deficiency.
Abdel-Salam GMH, Abdel-Hamid MS. Abdel-Salam GMH, et al. Neuropediatrics. 2021 Jun;52(3):201-207. doi: 10.1055/s-0040-1718917. Epub 2020 Dec 3. Neuropediatrics. 2021. PMID: 33271615
Our patient is the second to show asparagine synthetase deficiency and intracranial hemorrhage, thus confirming the involvement of ASNS gene. As such, it is important to consider asparagine synthetase deficiency syndrome in patients with …
Our patient is the second to show asparagine synthetase deficiency and intracranial hemorrhage, thus confirming the inv …
Asparagine Synthetase deficiency-report of a novel mutation and review of literature.
Gupta N, Tewari VV, Kumar M, Langeh N, Gupta A, Mishra P, Kaur P, Ramprasad V, Murugan S, Kumar R, Jana M, Kabra M. Gupta N, et al. Metab Brain Dis. 2017 Dec;32(6):1889-1900. doi: 10.1007/s11011-017-0073-6. Epub 2017 Aug 3. Metab Brain Dis. 2017. PMID: 28776279 Review.
Asparagine synthetase deficiency is a rare inborn error of metabolism caused by a defect in ASNS, a gene encoding asparagine synthetase. ...
Asparagine synthetase deficiency is a rare inborn error of metabolism caused by a defect in ASNS, a gene encoding as …
The role of asparagine synthetase on nutrient metabolism in pancreatic disease.
Tsai CY, Kilberg MS, Husain SZ. Tsai CY, et al. Pancreatology. 2020 Sep;20(6):1029-1034. doi: 10.1016/j.pan.2020.08.002. Epub 2020 Aug 8. Pancreatology. 2020. PMID: 32800652 Review.
The de novo synthesis of Asn in the pancreas occurs through the enzyme asparagine synthetase (ASNS). The pancreas has the highest expression of ASNS of any organ, and it can further upregulate ASNS expression in the setting of amino acid depletion. ...
The de novo synthesis of Asn in the pancreas occurs through the enzyme asparagine synthetase (ASNS). The pancreas has the high …
Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project.
Stenton SL, O'Leary MC, Lemire G, VanNoy GE, DiTroia S, Ganesh VS, Groopman E, O'Heir E, Mangilog B, Osei-Owusu I, Pais LS, Serrano J, Singer-Berk M, Weisburd B, Wilson MW, Austin-Tse C, Abdelhakim M, Althagafi A, Babbi G, Bellazzi R, Bovo S, Carta MG, Casadio R, Coenen PJ, De Paoli F, Floris M, Gajapathy M, Hoehndorf R, Jacobsen JOB, Joseph T, Kamandula A, Katsonis P, Kint C, Lichtarge O, Limongelli I, Lu Y, Magni P, Mamidi TKK, Martelli PL, Mulargia M, Nicora G, Nykamp K, Pejaver V, Peng Y, Pham THC, Podda MS, Rao A, Rizzo E, Saipradeep VG, Savojardo C, Schols P, Shen Y, Sivadasan N, Smedley D, Soru D, Srinivasan R, Sun Y, Sunderam U, Tan W, Tiwari N, Wang X, Wang Y, Williams A, Worthey EA, Yin R, You Y, Zeiberg D, Zucca S, Bakolitsa C, Brenner SE, Fullerton SM, Radivojac P, Rehm HL, O'Donnell-Luria A. Stenton SL, et al. Hum Genomics. 2024 Apr 29;18(1):44. doi: 10.1186/s40246-024-00604-w. Hum Genomics. 2024. PMID: 38685113 Free PMC article.
In one example, RNA sequencing demonstrated aberrant splicing due to a deep intronic indel in ASNS, identified in trans with a frameshift variant in an unsolved proband with phenotypes consistent with asparagine synthetase deficiency. CONCLUSIONS: Model metho …
In one example, RNA sequencing demonstrated aberrant splicing due to a deep intronic indel in ASNS, identified in trans with a frameshift va …
Molecular diagnosis of asparagine synthetase (ASNS) deficiency in two Indian families and literature review of 29 ASNS deficient cases.
Radha Rama Devi A, Naushad SM. Radha Rama Devi A, et al. Gene. 2019 Jul 1;704:97-102. doi: 10.1016/j.gene.2019.04.024. Epub 2019 Apr 9. Gene. 2019. PMID: 30978478 Review.
In the current study, we report three cases of Asparagine Synthetase (ASNS) Deficiency from two consanguineous families. Family 1 had two early neonatal deaths due to a novel mutation in the ASNS gene c.788C > T (p.S263F) and both the children presented wi …
In the current study, we report three cases of Asparagine Synthetase (ASNS) Deficiency from two consanguineous families …
In vitro functional analysis of four variants of human asparagine synthetase.
Matsumoto H, Kawashima N, Yamamoto T, Nakama M, Otsuka H, Ago Y, Sasai H, Kubota K, Ozeki M, Kawamoto N, Esaka Y, Ohnishi H. Matsumoto H, et al. J Inherit Metab Dis. 2021 Sep;44(5):1226-1234. doi: 10.1002/jimd.12408. Epub 2021 Jun 9. J Inherit Metab Dis. 2021. PMID: 34080208
The loss-of-function variants of the human asparagine synthetase (ASNS) gene cause asparagine synthetase deficiency (ASNSD). Diagnosis of ASNSD requires genetic tests because a specific biochemical diagnostic for ASNSD is not available. ...
The loss-of-function variants of the human asparagine synthetase (ASNS) gene cause asparagine synthetase defi …
Cellular and molecular characterization of two novel asparagine synthetase gene mutations linked to asparagine synthetase deficiency.
Staklinski SJ, Chang MC, Yu F, Collins Ruff K, Franz DN, Qian Z, Bloom LB, Merritt ME, McKenna R, Kilberg MS. Staklinski SJ, et al. J Biol Chem. 2022 Sep;298(9):102385. doi: 10.1016/j.jbc.2022.102385. Epub 2022 Aug 17. J Biol Chem. 2022. PMID: 35985424 Free PMC article.
Asparagine synthetase (ASNS) catalyzes synthesis of asparagine (Asn) and Glu from Asp and Gln in an ATP-dependent reaction. Asparagine synthetase deficiency (ASNSD) results from biallelic mutations in the ASNS gene. ...
Asparagine synthetase (ASNS) catalyzes synthesis of asparagine (Asn) and Glu from Asp and Gln in an ATP-dependent reaction. …
32 results