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Items: 12

1.

The pharmacological chaperone 1-deoxynojirimycin increases the activity and lysosomal trafficking of multiple mutant forms of acid alpha-glucosidase.

Flanagan JJ, Rossi B, Tang K, Wu X, Mascioli K, Donaudy F, Tuzzi MR, Fontana F, Cubellis MV, Porto C, Benjamin E, Lockhart DJ, Valenzano KJ, Andria G, Parenti G, Do HV.

Hum Mutat. 2009 Dec;30(12):1683-92. doi: 10.1002/humu.21121.

PMID:
19862843
2.

A gene network regulating lysosomal biogenesis and function.

Sardiello M, Palmieri M, di Ronza A, Medina DL, Valenza M, Gennarino VA, Di Malta C, Donaudy F, Embrione V, Polishchuk RS, Banfi S, Parenti G, Cattaneo E, Ballabio A.

Science. 2009 Jul 24;325(5939):473-7. doi: 10.1126/science.1174447. Epub 2009 Jun 25.

3.

Abnormal mannose-6-phosphate receptor trafficking impairs recombinant alpha-glucosidase uptake in Pompe disease fibroblasts.

Cardone M, Porto C, Tarallo A, Vicinanza M, Rossi B, Polishchuk E, Donaudy F, Andria G, De Matteis MA, Parenti G.

Pathogenetics. 2008 Dec 1;1(1):6. doi: 10.1186/1755-8417-1-6.

4.

Are MYO1C and MYO1F associated with hearing loss?

Zadro C, Alemanno MS, Bellacchio E, Ficarella R, Donaudy F, Melchionda S, Zelante L, Rabionet R, Hilgert N, Estivill X, Van Camp G, Gasparini P, Carella M.

Biochim Biophys Acta. 2009 Jan;1792(1):27-32. doi: 10.1016/j.bbadis.2008.10.017. Epub 2008 Nov 5.

5.

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
6.

A functional study of plasma-membrane calcium-pump isoform 2 mutants causing digenic deafness.

Ficarella R, Di Leva F, Bortolozzi M, Ortolano S, Donaudy F, Petrillo M, Melchionda S, Lelli A, Domi T, Fedrizzi L, Lim D, Shull GE, Gasparini P, Brini M, Mammano F, Carafoli E.

Proc Natl Acad Sci U S A. 2007 Jan 30;104(5):1516-21. Epub 2007 Jan 18.

7.

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.

8.

Identification of a novel mutation in the myosin VIIA motor domain in a family with autosomal dominant hearing loss (DFNA11).

Di Leva F, D'Adamo P, Cubellis MV, D'Eustacchio A, Errichiello M, Saulino C, Auletta G, Giannini P, Donaudy F, Ciccodicola A, Gasparini P, Franzè A, Marciano E.

Audiol Neurootol. 2006;11(3):157-64. Epub 2006 Jan 9.

PMID:
16449806
9.

Espin gene (ESPN) mutations associated with autosomal dominant hearing loss cause defects in microvillar elongation or organisation.

Donaudy F, Zheng L, Ficarella R, Ballana E, Carella M, Melchionda S, Estivill X, Bartles JR, Gasparini P.

J Med Genet. 2006 Feb;43(2):157-61. Epub 2005 Jun 1.

10.

Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4).

Donaudy F, Snoeckx R, Pfister M, Zenner HP, Blin N, Di Stazio M, Ferrara A, Lanzara C, Ficarella R, Declau F, Pusch CM, Nürnberg P, Melchionda S, Zelante L, Ballana E, Estivill X, Van Camp G, Gasparini P, Savoia A.

Am J Hum Genet. 2004 Apr;74(4):770-6. Epub 2004 Mar 10.

11.

Multiple mutations of MYO1A, a cochlear-expressed gene, in sensorineural hearing loss.

Donaudy F, Ferrara A, Esposito L, Hertzano R, Ben-David O, Bell RE, Melchionda S, Zelante L, Avraham KB, Gasparini P.

Am J Hum Genet. 2003 Jun;72(6):1571-7. Epub 2003 May 6.

12.

A new locus (DFNA47) for autosomal dominant non-syndromic inherited hearing loss maps to 9p21-22 in a large Italian family.

D'Adamo P, Donaudy F, D'Eustacchio A, Di Iorio E, Melchionda S, Gasparini P.

Eur J Hum Genet. 2003 Feb;11(2):121-4.

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