PubMed (GeneRIF) for id: 175

Year	Number of Results
2004	2
2005	1
2008	2
2009	1
2012	2
2014	1
2016	1
2017	1
2018	1
2019	1
2024	0

1

The T99K variant of glycosylasparaginase shows a new structural mechanism of the genetic disease aspartylglucosaminuria.

Pande S, Guo HC. Pande S, et al. Protein Sci. 2019 Jun;28(6):1013-1023. doi: 10.1002/pro.3607. Epub 2019 Apr 9. Protein Sci. 2019. PMID: 30901125 Free PMC article.

2

Biochemical and structural insights into an allelic variant causing the lysosomal storage disorder - aspartylglucosaminuria.

Pande S, Bizilj W, Guo HC. Pande S, et al. FEBS Lett. 2018 Aug;592(15):2550-2561. doi: 10.1002/1873-3468.13190. Epub 2018 Jul 23. FEBS Lett. 2018. PMID: 29993127 Free PMC article.

3

Crystal structure of a mutant glycosylasparaginase shedding light on aspartylglycosaminuria-causing mechanism as well as on hydrolysis of non-chitobiose substrate.

Pande S, Lakshminarasimhan D, Guo HC. Pande S, et al. Mol Genet Metab. 2017 Jun;121(2):150-156. doi: 10.1016/j.ymgme.2017.04.008. Epub 2017 Apr 19. Mol Genet Metab. 2017. PMID: 28457719 Free PMC article.

4

Development of a model system for neuronal dysfunction in Fabry disease.

Kaneski CR, Brady RO, Hanover JA, Schueler UH. Kaneski CR, et al. Mol Genet Metab. 2016 Sep;119(1-2):144-50. doi: 10.1016/j.ymgme.2016.07.010. Epub 2016 Jul 22. Mol Genet Metab. 2016. PMID: 27471012 Free PMC article.

5

Aspartylglucosaminuria: unusual neonatal presentation in Qatari twins with a novel aspartylglucosaminidase gene mutation and 3 new cases in a Turkish family.

Opladen T, Ebinger F, Zschocke J, Sengupta D, Ben-Omran T, Shahbeck N, Moog U, Fischer C, Bürger F, Haas D, Ruef P, Harting I, Al-Rifai H, Hoffmann GF. Opladen T, et al. J Child Neurol. 2014 Jan;29(1):36-42. doi: 10.1177/0883073812469049. Epub 2012 Dec 26. J Child Neurol. 2014. PMID: 23271757

6

Expanding targets for a metabolic therapy of cancer: L-asparaginase.

Covini D, Tardito S, Bussolati O, Chiarelli LR, Pasquetto MV, Digilio R, Valentini G, Scotti C. Covini D, et al. Recent Pat Anticancer Drug Discov. 2012 Jan;7(1):4-13. doi: 10.2174/157489212798358001. Recent Pat Anticancer Drug Discov. 2012. PMID: 21854356 Review.

7

Plasma lysosomal enzyme activities in congenital disorders of glycosylation, galactosemia and fructosemia.

Michelakakis H, Moraitou M, Mavridou I, Dimitriou E. Michelakakis H, et al. Clin Chim Acta. 2009 Mar;401(1-2):81-3. doi: 10.1016/j.cca.2008.11.024. Epub 2008 Dec 3. Clin Chim Acta. 2009. PMID: 19100247

8

Structural basis of aspartylglucosaminuria.

Saito S, Ohno K, Sugawara K, Suzuki T, Togawa T, Sakuraba H. Saito S, et al. Biochem Biophys Res Commun. 2008 Dec 26;377(4):1168-72. doi: 10.1016/j.bbrc.2008.10.142. Epub 2008 Nov 4. Biochem Biophys Res Commun. 2008. PMID: 18992224

9

Elevation of plasma aspartylglucosaminidase is a useful marker for the congenital disorders of glycosylation type I (CDG I).

Jackson M, Clayton P, Grunewald S, Keir G, Mills K, Mills P, Winchester B, Worthington V, Young E. Jackson M, et al. J Inherit Metab Dis. 2005;28(6):1197-8. doi: 10.1007/s10545-005-0157-z. J Inherit Metab Dis. 2005. PMID: 16435229

10

A novel aspartylglucosaminuria mutation affects translocation of aspartylglucosaminidase.

Saarela J, von Schantz C, Peltonen L, Jalanko A. Saarela J, et al. Hum Mutat. 2004 Oct;24(4):350-1. doi: 10.1002/humu.9276. Hum Mutat. 2004. PMID: 15365992

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