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Items: 26

1.

Mitochondria-associated ER membranes (MAMs) and lysosomal storage diseases.

Annunziata I, Sano R, d'Azzo A.

Cell Death Dis. 2018 Feb 28;9(3):328. doi: 10.1038/s41419-017-0025-4. Review.

2.

Galactosialidosis: historic aspects and overview of investigated and emerging treatment options.

Annunziata I, d'Azzo A.

Expert Opin Orphan Drugs. 2017;5(2):131-141. doi: 10.1080/21678707.2016.1266933. Epub 2016 Dec 14.

3.

Sulfatase activities are regulated by the interaction of the sulfatase-modifying factor 1 with SUMF2.

Zito E, Fraldi A, Pepe S, Annunziata I, Kobinger G, Di Natale P, Ballabio A, Cosma MP.

EMBO Rep. 2016 Dec;17(12):1901. No abstract available.

4.

Sulfatase modifying factor 1 trafficking through the cells: from endoplasmic reticulum to the endoplasmic reticulum.

Zito E, Buono M, Pepe S, Settembre C, Annunziata I, Surace EM, Dierks T, Monti M, Cozzolino M, Pucci P, Ballabio A, Cosma MP.

EMBO J. 2016 Dec 1;35(23):2614-2615. No abstract available.

5.

Regulated lysosomal exocytosis mediates cancer progression.

Machado E, White-Gilbertson S, van de Vlekkert D, Janke L, Moshiach S, Campos Y, Finkelstein D, Gomero E, Mosca R, Qiu X, Morton CL, Annunziata I, d'Azzo A.

Sci Adv. 2015 Dec 18;1(11):e1500603. doi: 10.1126/sciadv.1500603. eCollection 2015 Dec.

6.

Loss of Cellular Sialidases Does Not Affect the Sialylation Status of the Prion Protein but Increases the Amounts of Its Proteolytic Fragment C1.

Katorcha E, Klimova N, Makarava N, Savtchenko R, Pan X, Annunziata I, Takahashi K, Miyagi T, Pshezhetsky AV, d'Azzo A, Baskakov IV.

PLoS One. 2015 Nov 16;10(11):e0143218. doi: 10.1371/journal.pone.0143218. eCollection 2015.

7.

Isolation of mitochondria-associated ER membranes (MAMs) and glycosphingolipid-enriched microdomains (GEMs) from brain tissues and neuronal cells.

Annunziata I, Patterson A, d'Azzo A.

Methods Mol Biol. 2015;1264:25-33. doi: 10.1007/978-1-4939-2257-4_3.

PMID:
25631000
8.

Pathogenesis, Emerging therapeutic targets and Treatment in Sialidosis.

d'Azzo A, Machado E, Annunziata I.

Expert Opin Orphan Drugs. 2015;3(5):491-504. Epub 2015 Apr 13.

9.

Lysosomal multienzyme complex: pros and cons of working together.

Bonten EJ, Annunziata I, d'Azzo A.

Cell Mol Life Sci. 2014 Jun;71(11):2017-32. doi: 10.1007/s00018-013-1538-3. Epub 2013 Dec 15. Review.

10.

Lysosomal NEU1 deficiency affects amyloid precursor protein levels and amyloid-β secretion via deregulated lysosomal exocytosis.

Annunziata I, Patterson A, Helton D, Hu H, Moshiach S, Gomero E, Nixon R, d'Azzo A.

Nat Commun. 2013;4:2734. doi: 10.1038/ncomms3734.

11.

Mitochondria-associated ER membranes (MAMs) and glycosphingolipid enriched microdomains (GEMs): isolation from mouse brain.

Annunziata I, Patterson A, d'Azzo A.

J Vis Exp. 2013 Mar 4;(73):e50215. doi: 10.3791/50215.

12.

Interorganellar membrane microdomains: dynamic platforms in the control of calcium signaling and apoptosis.

Annunziata I, d'Azzo A.

Cells. 2013 Aug 2;2(3):574-90. doi: 10.3390/cells2030574.

13.

Non-erythropoietic erythropoietin derivatives protect from light-induced and genetic photoreceptor degeneration.

Colella P, Iodice C, Di Vicino U, Annunziata I, Surace EM, Auricchio A.

Hum Mol Genet. 2011 Jun 1;20(11):2251-62. doi: 10.1093/hmg/ddr115. Epub 2011 Mar 19.

14.

GM1-ganglioside accumulation at the mitochondria-associated ER membranes links ER stress to Ca(2+)-dependent mitochondrial apoptosis.

Sano R, Annunziata I, Patterson A, Moshiach S, Gomero E, Opferman J, Forte M, d'Azzo A.

Mol Cell. 2009 Nov 13;36(3):500-11. doi: 10.1016/j.molcel.2009.10.021.

15.

Multiple sulfatase deficiency is due to hypomorphic mutations of the SUMF1 gene.

Annunziata I, Bouchè V, Lombardi A, Settembre C, Ballabio A.

Hum Mutat. 2007 Sep;28(9):928.

PMID:
17657823
16.

Contiguous gene syndrome due to an interstitial deletion in Xp22.3 in a boy with ichthyosis, chondrodysplasia punctata, mental retardation and ADHD.

Lonardo F, Parenti G, Luquetti DV, Annunziata I, Della Monica M, Perone L, De Gregori M, Zuffardi O, Brunetti-Pierri N, Andria G, Scarano G.

Eur J Med Genet. 2007 Jul-Aug;50(4):301-8. Epub 2007 May 21.

PMID:
17591464
17.

Sulfatase modifying factor 1 trafficking through the cells: from endoplasmic reticulum to the endoplasmic reticulum.

Zito E, Buono M, Pepe S, Settembre C, Annunziata I, Surace EM, Dierks T, Monti M, Cozzolino M, Pucci P, Ballabio A, Cosma MP.

EMBO J. 2007 May 16;26(10):2443-53. Epub 2007 Apr 19. Erratum in: EMBO J. 2016 Dec 1;35(23 ):2614-2615.

18.

Systemic inflammation and neurodegeneration in a mouse model of multiple sulfatase deficiency.

Settembre C, Annunziata I, Spampanato C, Zarcone D, Cobellis G, Nusco E, Zito E, Tacchetti C, Cosma MP, Ballabio A.

Proc Natl Acad Sci U S A. 2007 Mar 13;104(11):4506-11. Epub 2007 Mar 6.

19.

Pharmacological Enhancement of Mutated α-Glucosidase Activity in Fibroblasts from Patients with Pompe Disease.

Parenti G, Zuppaldi A, Gabriela Pittis M, Rosaria Tuzzi M, Annunziata I, Meroni G, Porto C, Donaudy F, Rossi B, Rossi M, Filocamo M, Donati A, Bembi B, Ballabio A, Andria G.

Mol Ther. 2007 Mar;15(3):508-514. doi: 10.1038/sj.mt.6300074. Epub 2016 Dec 8.

PMID:
28182897
20.

Pharmacological enhancement of mutated alpha-glucosidase activity in fibroblasts from patients with Pompe disease.

Parenti G, Zuppaldi A, Gabriela Pittis M, Rosaria Tuzzi M, Annunziata I, Meroni G, Porto C, Donaudy F, Rossi B, Rossi M, Filocamo M, Donati A, Bembi B, Ballabio A, Andria G.

Mol Ther. 2007 Mar;15(3):508-14. Epub 2007 Jan 9.

21.

Sulfatases and sulfatase modifying factors: an exclusive and promiscuous relationship.

Sardiello M, Annunziata I, Roma G, Ballabio A.

Hum Mol Genet. 2005 Nov 1;14(21):3203-17. Epub 2005 Sep 20.

PMID:
16174644
22.

Sulphatase activities are regulated by the interaction of sulphatase-modifying factor 1 with SUMF2.

Zito E, Fraldi A, Pepe S, Annunziata I, Kobinger G, Di Natale P, Ballabio A, Cosma MP.

EMBO Rep. 2005 Jul;6(7):655-60. Erratum in: EMBO Rep. 2016 Dec;17 (12 ):1901.

23.

Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency.

Cosma MP, Pepe S, Parenti G, Settembre C, Annunziata I, Wade-Martins R, Di Domenico C, Di Natale P, Mankad A, Cox B, Uziel G, Mancini GM, Zammarchi E, Donati MA, Kleijer WJ, Filocamo M, Carrozzo R, Carella M, Ballabio A.

Hum Mutat. 2004 Jun;23(6):576-81.

PMID:
15146462
24.

The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases.

Cosma MP, Pepe S, Annunziata I, Newbold RF, Grompe M, Parenti G, Ballabio A.

Cell. 2003 May 16;113(4):445-56.

25.

Mapping of MRX81 in Xp11.2-Xq12 suggests the presence of a new gene involved in nonspecific X-linked mental retardation.

Annunziata I, Lanzara C, Conte I, Zullo A, Ventruto V, Rinaldi MM, D'Urso M, Casari G, Ciccodicola A, Miano MG.

Am J Med Genet A. 2003 Apr 30;118A(3):217-22.

PMID:
12673650
26.

Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase.

Brunetti-Pierri N, Corso G, Rossi M, Ferrari P, Balli F, Rivasi F, Annunziata I, Ballabio A, Russo AD, Andria G, Parenti G.

Am J Hum Genet. 2002 Oct;71(4):952-8. Epub 2002 Aug 20. Erratum in: Am J Hum Genet. 2003 Aug;73(2):445.

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