Search Results - "D'ADDIO, Marilena"

Spastin interacts with the centrosomal protein NA14, and is enriched in the spindle pole, the midbody and the distal axon by Errico, Alessia, Claudiani, Pamela, D'Addio, Marilena, Rugarli, Elena I.

“…Hereditary spastic paraplegia (HSP) is characterized by the specific retrograde degeneration of the longest axons in the central nervous system, the…”
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Ocular albinism: evidence for a defect in an intracellular signal transduction system by Schiaffino, M. Vittoria, d'Addio, Marilena, Alloni, Anna, Baschirotto, Cinzia, Valetti, Caterina, Cortese, Katia, Puri, Claudia, Bassi, M. Teresa, Colla, Cristina, De Luca, Michele, Tacchetti, Carlo, Ballabio, Andrea

“…G protein-coupled receptors (GPCRs) participate in the most common signal transduction system at the plasma membrane. The wide distribution of heterotrimeric G…”
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Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1 by D'ADDIO, Marilena, PIZZIGONI, Alessandro, BASSI, Maria Teresa, BASCHIROTTO, Cinzia, VALETTI, Caterina, INCERTI, Barbara, CLEMENTI, Maurizio, DE LUCA, Michele, BALLABIO, Andrea, SCHIAFFINO, Maria Vittoria

“…Ocular albinism type 1 (OA1) is an X-linked disorder mainly characterized by a severe reduction of visual acuity, hypopigmentation of the retina and the…”
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Biochemical Characterization of Arylsulfatase E and Functional Analysis of Mutations Found in Patients with X-Linked Chondrodysplasia Punctata by Daniele, Aurora, Parenti, Giancarlo, d'Addio, Marilena, Andria, Generoso, Ballabio, Andrea, Meroni, Germana

“…X-linked chondrodysplasia punctata (CDPX) is a congenital disorder characterized by abnormalities in cartilage and bone development. Mutations leading to amino…”
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