Stefania Assereto

The leukodystrophy protein FAM126A (hyccin) regulates PtdIns(4)P synthesis at the plasma membrane

Jeremy M. Baskin, Xudong Wu, Romain Christiano et al. · Nature Cell Biology · 2015 · 135 citations · Full text

Protein Function, Signal Transduction, P Synthesis +15

Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV)

Claudio Bruno, O. P. van Diggelen, Denise Cassandrini et al. · Neurology · 2004 · 130 citations

Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract

Federico Zara, Roberta Biancheri, Claudio Bruno et al. · Nature Genetics · 2006 · 94 citations · Full text

Congenital Cataract, Ocular Disease, Ophthalmology +6

Therapeutic Potential of Proteasome Inhibition in Duchenne and Becker Muscular Dystrophies

Elisabetta Gazzerro, Stefania Assereto, Andrea Bonetto et al. · American Journal Of Pathology · 2010 · 81 citations · Full text

Proteasome Inhibition, Therapeutic Potential, Protein Function +9

Molecular analysis and characterization of nine novel CTSK mutations in twelve patients affected by pycnodysostosis

Stefano Regis, Barbara Tappino, Camillo Rosano et al. · Human Mutation · 2007 · 73 citations · Full text