Sturiale L - Search Results

1

Secondary disorders of glycosylation in inborn errors of fructose metabolism.

Quintana E, Sturiale L, Montero R, Andrade F, Fernandez C, Couce ML, Barone R, Aldamiz-Echevarria L, Ribes A, Artuch R, Briones P. Quintana E, et al. Among authors: sturiale l. J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S273-8. doi: 10.1007/s10545-009-1219-4. Epub 2009 Sep 20. J Inherit Metab Dis. 2009. PMID: 19768653

2

Severe kidney dysfunction in sialidosis mice reveals an essential role for neuraminidase 1 in reabsorption.

Kho I, Demina EP, Pan X, Londono I, Cairo CW, Sturiale L, Palmigiano A, Messina A, Garozzo D, Ung RV, Mac-Way F, Bonneil É, Thibault P, Lemaire M, Morales CR, Pshezhetsky AV. Kho I, et al. Among authors: sturiale l. JCI Insight. 2023 Oct 23;8(20):e166470. doi: 10.1172/jci.insight.166470. JCI Insight. 2023. PMID: 37698928 Free PMC article.

3

N-acetylneuraminate pyruvate lyase controls sialylation of muscle glycoproteins essential for muscle regeneration and function.

Da Silva A, Dort J, Orfi Z, Pan X, Huang S, Kho I, Heckel E, Muscarnera G, van Vliet PP, Sturiale L, Messina A, Romeo DA, van Karnebeek CDM, Wen XY, Hinek A, Molina T, Andelfinger G, Ellezam B, Yamanaka Y, Olivos HJ, Morales CR, Joyal JS, Lefeber DJ, Garozzo D, Dumont NA, Pshezhetsky AV. Da Silva A, et al. Among authors: sturiale l. Sci Adv. 2023 Jun 30;9(26):eade6308. doi: 10.1126/sciadv.ade6308. Epub 2023 Jun 30. Sci Adv. 2023. PMID: 37390204 Free PMC article.

4

Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia.

Sturiale L, Barone R, Fiumara A, Perez M, Zaffanello M, Sorge G, Pavone L, Tortorelli S, O'Brien JF, Jaeken J, Garozzo D. Sturiale L, et al. Glycobiology. 2005 Dec;15(12):1268-76. doi: 10.1093/glycob/cwj021. Epub 2005 Jul 21. Glycobiology. 2005. PMID: 16037488

5

Borderline mental development in a congenital disorder of glycosylation (CDG) type Ia patient with multisystemic involvement (intermediate phenotype).

Barone R, Sturiale L, Fiumara A, Uziel G, Garozzo D, Jaeken J. Barone R, et al. Among authors: sturiale l. J Inherit Metab Dis. 2007 Feb;30(1):107. doi: 10.1007/s10545-006-0486-6. Epub 2006 Dec 20. J Inherit Metab Dis. 2007. PMID: 17186415

6

Clinical phenotype correlates to glycoprotein phenotype in a sib pair with CDG-Ia.

Barone R, Sturiale L, Sofia V, Ignoto A, Fiumara A, Sorge G, Garozzo D, Zappia M. Barone R, et al. Among authors: sturiale l. Am J Med Genet A. 2008 Aug 15;146A(16):2103-8. doi: 10.1002/ajmg.a.32446. Am J Med Genet A. 2008. PMID: 18629883

7

Multiplexed glycoproteomic analysis of glycosylation disorders by sequential yolk immunoglobulins immunoseparation and MALDI-TOF MS.

Sturiale L, Barone R, Palmigiano A, Ndosimao CN, Briones P, Adamowicz M, Jaeken J, Garozzo D. Sturiale L, et al. Proteomics. 2008 Sep;8(18):3822-32. doi: 10.1002/pmic.200700496. Proteomics. 2008. PMID: 18712764

8

Mass spectrometry in the characterization of human genetic N-glycosylation defects.

Barone R, Sturiale L, Garozzo D. Barone R, et al. Among authors: sturiale l. Mass Spectrom Rev. 2009 May-Jun;28(3):517-42. doi: 10.1002/mas.20201. Mass Spectrom Rev. 2009. PMID: 18844296

9

The impact of mass spectrometry in the diagnosis of congenital disorders of glycosylation.

Sturiale L, Barone R, Garozzo D. Sturiale L, et al. J Inherit Metab Dis. 2011 Aug;34(4):891-9. doi: 10.1007/s10545-011-9306-8. Epub 2011 Mar 8. J Inherit Metab Dis. 2011. PMID: 21384227 Review.

10

MALDI-MS profiling of serum O-glycosylation and N-glycosylation in COG5-CDG.

Palmigiano A, Bua RO, Barone R, Rymen D, Régal L, Deconinck N, Dionisi-Vici C, Fung CW, Garozzo D, Jaeken J, Sturiale L. Palmigiano A, et al. Among authors: sturiale l. J Mass Spectrom. 2017 Jun;52(6):372-377. doi: 10.1002/jms.3936. J Mass Spectrom. 2017. PMID: 28444691

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