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Page 1
Asparagine Synthetase Deficiency.
Alfadhel M, El-Hattab AW. Alfadhel M, et al. 2018 Sep 20. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2018 Sep 20. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 30234940 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: Asparagine synthetase deficiency (ASD) mainly presents as a triad of congenital microcephaly, severe developmental delay, and axial hypotonia followed by spastic quadriplegia. ...As needed: EEG if there are concerns for new-onset sei …
CLINICAL CHARACTERISTICS: Asparagine synthetase deficiency (ASD) mainly presents as a triad of congenital microcephaly, …
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 …
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 …
Characterizing asparagine synthetase deficiency variants in lymphoblastoid cell lines.
Staklinski SJ, Chang MC, Ahrens-Nicklas RC, Kaur S, Stefanatos AK, Dudenhausen EE, Merritt ME, Kilberg MS. Staklinski SJ, et al. JIMD Rep. 2023 Jan 5;64(2):167-179. doi: 10.1002/jmd2.12356. eCollection 2023 Mar. JIMD Rep. 2023. PMID: 36873094 Free PMC article.
Asparagine synthetase (ASNS) catalyzes the synthesis of asparagine (Asn) from aspartate and glutamine. Biallelic mutations in the ASNS gene result in ASNS Deficiency (ASNSD). Children with ASNSD exhibit congenital microcephaly, epileptic-like seizures, …
Asparagine synthetase (ASNS) catalyzes the synthesis of asparagine (Asn) from aspartate and glutamine. Biallelic mutati …
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. ...Till date, 26 mutations were reported in ASNS gene in 29 affected children indicating high degree of genetic heterogeneity and high mor …
In the current study, we report three cases of Asparagine Synthetase (ASNS) Deficiency from two consanguineous families …
Asparagine Synthetase Deficiency: New Inborn Errors of Metabolism.
Alfadhel M, Alrifai MT, Trujillano D, Alshaalan H, Al Othaim A, Al Rasheed S, Assiri H, Alqahtani AA, Alaamery M, Rolfs A, Eyaid W. Alfadhel M, et al. JIMD Rep. 2015;22:11-6. doi: 10.1007/8904_2014_405. Epub 2015 Feb 8. JIMD Rep. 2015. PMID: 25663424 Free PMC article.
BACKGROUND: Asparagine synthetase deficiency (ASD) is a newly identified neurometabolic disorder characterized by severe congenital microcephaly, severe global developmental delay, intractable seizure disorder, and spastic quadriplegia. ...CSF asparagine …
BACKGROUND: Asparagine synthetase deficiency (ASD) is a newly identified neurometabolic disorder characterized by sever …
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 a …
Healthy cells can synthesize Asn through asparagine synthetase (ASNS) activity, whereas specific cancer and genetically diseas …
ZBTB1 Regulates Asparagine Synthesis and Leukemia Cell Response to L-Asparaginase.
Williams RT, Guarecuco R, Gates LA, Barrows D, Passarelli MC, Carey B, Baudrier L, Jeewajee S, La K, Prizer B, Malik S, Garcia-Bermudez J, Zhu XG, Cantor J, Molina H, Carroll T, Roeder RG, Abdel-Wahab O, Allis CD, Birsoy K. Williams RT, et al. Cell Metab. 2020 Apr 7;31(4):852-861.e6. doi: 10.1016/j.cmet.2020.03.008. Cell Metab. 2020. PMID: 32268116 Free PMC article.
While ATF4 is universally required under amino acid starvation, our screens yielded a transcription factor, Zinc Finger and BTB domain-containing protein 1 (ZBTB1), as uniquely essential under asparagine deprivation. ZBTB1 knockout cells are unable to synthesize asparag …
While ATF4 is universally required under amino acid starvation, our screens yielded a transcription factor, Zinc Finger and BTB domain-conta …
Asparagine synthetase deficiency: A novel case with an unusual molecular mechanism.
Faoucher M, Poulat AL, Chatron N, Labalme A, Schluth-Bolard C, Till M, Vianey-Saban C, Portes VD, Edery P, Sanlaville D, Lesca G, Acquaviva C. Faoucher M, et al. Mol Genet Metab Rep. 2019 Nov 1;21:100509. doi: 10.1016/j.ymgmr.2019.100509. eCollection 2019 Dec. Mol Genet Metab Rep. 2019. PMID: 31720226 Free PMC article.
We report the case of a girl with Asparagine synthetase deficiency, an autosomal recessive metabolic disorder characterized by severe microcephaly and epileptic encephalopathy secondary to pathogenic variants in the ASNS gene. ...Amino acid analysis provided …
We report the case of a girl with Asparagine synthetase deficiency, an autosomal recessive metabolic disorder character …
Utility of AlphaMissense predictions in Asparagine Synthetase deficiency variant classification.
Staklinski SJ, Scheben A, Siepel A, Kilberg MS. Staklinski SJ, et al. bioRxiv [Preprint]. 2023 Nov 2:2023.10.30.564808. doi: 10.1101/2023.10.30.564808. bioRxiv. 2023. PMID: 37961642 Free PMC article. Preprint.
AlphaMissense is a recently developed method that is designed to classify missense variants into pathogenic, benign, or ambiguous categories across the entire human proteome. Asparagine Synthetase Deficiency (ASNSD) is a developmental disorder associated with …
AlphaMissense is a recently developed method that is designed to classify missense variants into pathogenic, benign, or ambiguous categories …
162 results