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Francesca Donaudy

University of Naples Federico II

11

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2158

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A Gene Network Regulating Lysosomal Biogenesis and Function

2009 Science
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Are MYO1C and MYO1F associated with hearing loss

2009 Biochimica et Biophysica Acta
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The pharmacological chaperone 1-deoxynojirimycin increases the activity and lysosomal trafficking of multiple mutant forms of acid alpha-glucosidase†

2009 Human Mutation
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Abnormal mannose-6-phosphate receptor trafficking impairs recombinant alpha-glucosidase uptake in Pompe disease fibroblasts

2008 Pathogenetics
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Pharmacological enhancement of mutated alpha-glucosidase activity in fibroblasts from patients with Pompe disease.

2007 Molecular Therapy
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A functional study of plasma-membrane calcium-pump isoform 2 mutants causing digenic deafness

2007 Proceedings of the National Academy of Sciences of the United States of America
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Identification of a Novel Mutation in the Myosin VIIA Motor Domain in a Family with Autosomal Dominant Hearing Loss (DFNA11)

2006 Audiology and Neuro-otology
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Espin gene (ESPN) mutations associated with autosomal dominant hearing loss cause defects in microvillar elongation or organisation

2005 Journal of Medical Genetics
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A new locus (DFNA47) for autosomal dominant non-syndromic inherited hearing loss maps to 9p21-22 in a large Italian family

2003 European Journal of Human Genetics
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Citations (5)