Francesca Donaudy

发表

A Gene Network Regulating Lysosomal Biogenesis and Function

A. Ballabio, D. Medina, V. A. Gennarino, 2009, Science.

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

A. Ballabio, G. Meroni, B. Bembi, 2007, Molecular therapy : the journal of the American Society of Gene Therapy.

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

E Carafoli, F Mammano, M. Bortolozzi, 2007, Proceedings of the National Academy of Sciences.

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

G. Andria, G. Parenti, M. D. De Matteis, 2008, PathoGenetics.

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

P. Gasparini, R. E. Bell, R. Hertzano, 2003, American journal of human genetics.

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

D. Lockhart, J. Flanagan, M. Cubellis, 2009, Human mutation.

Are MYO1C and MYO1F associated with hearing loss?

X. Estivill, P. Gasparini, M. Carella, 2009, Biochimica et biophysica acta.

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

A. Ballabio, G. Meroni, B. Bembi, 2007, Molecular therapy : the journal of the American Society of Gene Therapy.

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

X. Estivill, P. Gasparini, A. Savoia, 2004, American journal of human genetics.

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

X. Estivill, P. Gasparini, M. Carella, 2005, Journal of Medical Genetics.