Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy

Silvia Bione, Elena Maestrini, Stefano Rivella, +4

Nature Genetics

Mendelian DisorderGenetic DisorderNatural SciencesGeneticsMolecular Biology +8

Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease

Barbara Tappino, Roberta Biancheri, Matthew Mort, +10

Human Mutation

Molecular Diagnostic TechniquesSomatic VariantMendelian DisorderGenetic DisorderMedicine +12

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

Stefano Regis, Barbara Tappino, Camillo Rosano, +4

Human Mutation

TGF-β1 Downregulates the Expression of CX3CR1 by Inducing miR-27a-5p in Primary Human NK Cells

Stefano Regis, Fabio Caliendo, Alessandra Dondero, +6

Frontiers in Immunology

Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patients

Mirella Filocamo, Raffaella Mazzotti, Marina Stroppiano, +7

Human Mutation

EngineeringLysosomal Storage DiseaseGeneticsPathologyMolecular Genetics +16

Cell-Laden Hydrogel as a Clinical-Relevant 3D Model for Analyzing Neuroblastoma Growth, Immunophenotype, and Susceptibility to Therapies

Alessandra Marrella, Alessandra Dondero, Maurizio Aiello, +9

Frontiers in Immunology

Molecular characterization of 22 novel UDP-N-acetylglucosamine-1-phosphate transferase α- and β-subunit (<i>GNPTAB</i>) gene mutations causing mucolipidosis types IIα/β and IIIα/β in 46 patients

Barbara Tappino, Nadia Chuzhanova, Stefano Regis, +12

Human Mutation

Mucolipidosis Types Iiα/βGeneticsPathologyMolecular GeneticsDisease Gene Identification +14

Imatinib and Nilotinib Off-Target Effects on Human NK Cells, Monocytes, and M2 Macrophages

Francesca Bellora, Alessandra Dondero, Maria Valeria Corrias, +10

The Journal of Immunology

Contribution of arylsulfatase A mutations located on the same allele to enzyme activity reduction and metachromatic leukodystrophy severity

Stefano Regis, Fabio Corsolini, Marina Stroppiano, +2

Human Genetics

BiosynthesisAldo-keto ReductaseBiochemistryNatural SciencesMolecular Biology +5

Molecular Genetic Analysis of the PLP1 Gene in 38 Families with PLP1-related disorders: Identification and Functional Characterization of 11 Novel PLP1 Mutations

Serena Grossi, Stefano Regis, Roberta Biancheri, +15

Orphanet Journal of Rare Diseases