Paolo Scartezzini

Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy

Carlo Minetti, Federica Sotgia, Claudio Bruno et al. · Nature Genetics · 1998 · 586 citations

Developmental Biology, Mendelian Disorder, Genetic Disorder +5

Vitamin C content and antioxidant activity of the fruit and of the Ayurvedic preparation of Emblica officinalis Gaertn.

Paolo Scartezzini, Fabiana Antognoni, Maria Augusta Raggi et al. · Journal of Ethnopharmacology · 2005 · 229 citations

Food Chemistry, Food Bioactive Compound, Botany +9

Primary defect of congenital dyserythropoietic anemia type II. Failure in glycosylation of erythrocyte lactosaminoglycan proteins caused by lowered N-acetylglucosaminyltransferase II.

Michiko N. Fukuda, Anne Dell, Paolo Scartezzini · Journal of Biological Chemistry · 1987 · 105 citations · Full text

Impairment of F1F0-ATPase, adenine nucleotide translocator and adenylate kinase causes mitochondrial energy deficit in human skin fibroblasts with chromosome 21 trisomy

Daniela Valenti, Apollonia Tullo, Mariano Francesco Caratozzolo et al. · Biochemical Journal · 2010 · 86 citations · Full text

Mitochondrial Dysfunction, Genetics, Mitochondrial Energy Deficit +16

The identification of a novel human homologue of the SH3 binding glutamic acid-rich (SH3BGR) gene establishes a new family of highly conserved small proteins related to Thioredoxin Superfamily

Michela Mazzocco, Massimo Maffei, Aliana Egeo et al. · Gene · 2002 · 66 citations

New Family, Protein Function, Signal Transduction +11