Deganuto M - Search Results

1

Cerebrospinal fluid lysosomal enzymes and alpha-synuclein in Parkinson's disease.

Parnetti L, Chiasserini D, Persichetti E, Eusebi P, Varghese S, Qureshi MM, Dardis A, Deganuto M, De Carlo C, Castrioto A, Balducci C, Paciotti S, Tambasco N, Bembi B, Bonanni L, Onofrj M, Rossi A, Beccari T, El-Agnaf O, Calabresi P. Parnetti L, et al. Among authors: deganuto m. Mov Disord. 2014 Jul;29(8):1019-27. doi: 10.1002/mds.25772. Epub 2014 Jan 16. Mov Disord. 2014. PMID: 24436092 Free PMC article.

2

First pilot newborn screening for four lysosomal storage diseases in an Italian region: identification and analysis of a putative causative mutation in the GBA gene.

Paciotti S, Persichetti E, Pagliardini S, Deganuto M, Rosano C, Balducci C, Codini M, Filocamo M, Menghini AR, Pagliardini V, Pasqui S, Bembi B, Dardis A, Beccari T. Paciotti S, et al. Among authors: deganuto m. Clin Chim Acta. 2012 Nov 20;413(23-24):1827-31. doi: 10.1016/j.cca.2012.07.011. Epub 2012 Jul 20. Clin Chim Acta. 2012. PMID: 22820396

3

Functional analysis of 11 novel GBA alleles.

Malini E, Grossi S, Deganuto M, Rosano C, Parini R, Dominisini S, Cariati R, Zampieri S, Bembi B, Filocamo M, Dardis A. Malini E, et al. Among authors: deganuto m. Eur J Hum Genet. 2014 Apr;22(4):511-6. doi: 10.1038/ejhg.2013.182. Epub 2013 Sep 11. Eur J Hum Genet. 2014. PMID: 24022302 Free PMC article.

4

Role of LIMP-2 in the intracellular trafficking of β-glucosidase in different human cellular models.

Malini E, Zampieri S, Deganuto M, Romanello M, Sechi A, Bembi B, Dardis A. Malini E, et al. Among authors: deganuto m. FASEB J. 2015 Sep;29(9):3839-52. doi: 10.1096/fj.15-271148. Epub 2015 May 27. FASEB J. 2015. PMID: 26018676

5

Identification of four novel mutations in the alpha glucosidase gene in five Italian patients with infantile onset glycogen storage disease type II.

Pittis MG, Montalvo AL, Miocic S, Martini C, Deganuto M, Candusso M, Ciana G, Bembi B. Pittis MG, et al. Among authors: deganuto m. Am J Med Genet A. 2003 Sep 1;121A(3):225-30. doi: 10.1002/ajmg.a.20164. Am J Med Genet A. 2003. PMID: 12923862

6

Glycogenosis type II: identification and expression of three novel mutations in the acid alpha-glucosidase gene causing the infantile form of the disease.

Montalvo AL, Cariati R, Deganuto M, Guerci V, Garcia R, Ciana G, Bembi B, Pittis MG. Montalvo AL, et al. Among authors: deganuto m. Mol Genet Metab. 2004 Mar;81(3):203-8. doi: 10.1016/j.ymgme.2003.11.011. Mol Genet Metab. 2004. PMID: 14972326

7

Identification and functional characterization of five novel mutant alleles in 58 Italian patients with Gaucher disease type 1.

Miocić S, Filocamo M, Dominissini S, Montalvo AL, Vlahovicek K, Deganuto M, Mazzotti R, Cariati R, Bembi B, Pittis MG. Miocić S, et al. Among authors: deganuto m. Hum Mutat. 2005 Jan;25(1):100. doi: 10.1002/humu.9301. Hum Mutat. 2005. PMID: 15605411

8

Altered intracellular redox status in Gaucher disease fibroblasts and impairment of adaptive response against oxidative stress.

Deganuto M, Pittis MG, Pines A, Dominissini S, Kelley MR, Garcia R, Quadrifoglio F, Bembi B, Tell G. Deganuto M, et al. J Cell Physiol. 2007 Jul;212(1):223-35. doi: 10.1002/jcp.21023. J Cell Physiol. 2007. PMID: 17443679

9

Efficacy of multidisciplinary approach in the treatment of two cases of nonclassical infantile glycogenosis type II.

Bembi B, Ciana G, Martini C, Benettoni A, Gombacci A, Deganuto M, Pittis MG. Bembi B, et al. Among authors: deganuto m. J Inherit Metab Dis. 2003;26(7):675-81. doi: 10.1023/b:boli.0000005618.76542.ed. J Inherit Metab Dis. 2003. PMID: 14707516

10

Genome-wide analysis and proteomic studies reveal APE1/Ref-1 multifunctional role in mammalian cells.

Vascotto C, Cesaratto L, Zeef LA, Deganuto M, D'Ambrosio C, Scaloni A, Romanello M, Damante G, Taglialatela G, Delneri D, Kelley MR, Mitra S, Quadrifoglio F, Tell G. Vascotto C, et al. Among authors: deganuto m. Proteomics. 2009 Feb;9(4):1058-74. doi: 10.1002/pmic.200800638. Proteomics. 2009. PMID: 19180539 Free PMC article.

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