Fondazione Telethon

Shire Human Genetic Therapies, Inc.

Andrea Ballabio

Alessandro Fraldi

Carmine Settembre

Diego Luis Medina Sanabria

Michael W Heartlein

Alberto Auricchio

Enrico Maria Surace

Kurt Von Figura

Bernhard Schmidt

Thomas Dierks

Maria Pia Cosma

The invention provides for nucleotide sequences encoding for a chimeric sulfatase, viral vectors expressing such sequences for gene therapy and pharmaceutical uses of the chimeric expressed protein. The invention is particularly applied in the therapy of mucopolysaccharidosis, preferably type IIIA.

Therapeutic strategies to treat CNS pathology in mucopolysaccharidoses

The invention refers to TFEB related molecules, as variants, mutants, truncated proteins, chimeras etc. that are constitutively localized in the nucleus of a eukaryote cell. Such molecules have a therapeutic applicability in all of disorders that need of an induction of the cell authophagic/lysosomal system, as lysosomal storage disorders, neurodegenerative diseases, hepatic diseases, muscle diseases and metabolic diseases.

TFEB variants and uses thereof

This invention relates to methods and compositions for the diagnosis and treatment of Multiple Sulfatase Deficiency (MSD) as well as other sulfatase deficiencies. More specifically, the invention relates to isolated molecules that modulate post-translational modifications on sulfatases. Such modifications are essential for proper sulfatase function.

Cell that expresses a sulfatase and a formylglycine generating enzyme

There are disclosed methods and compositions for recovering or improving visual function in a mammal, by means of adeno-associated viral vectors suitable for gene delivery to mammalian retina.

Methods and compositions for recovering or improving visual function

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Naples, Italy

Andrea Ballabio