1 - 25 of
124
results
for author:"Ballabio A."
in Literature Citations
| A gene network regulating lysosomal biogenesis and function. Sardiello M., Palmieri M., di Ronza A., Medina D.L., Valenza M., Gennarino V.A., Di Malta C., Donaudy F., Embrione V., Polishchuk R.S. et al. Science 325:473-477(2009) · UniProtKB (2) |
| Proteoglycan desulfation determines the efficiency of chondrocyte autophagy and the extent of FGF signaling during endochondral ossification. Settembre C., Arteaga-Solis E., McKee M.D., de Pablo R., Al Awqati Q., Ballabio A., Karsenty G. Genes Dev. 22:2645-2650(2008) · Mapped (18) |
| The ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells. Palmisano I., Bagnato P., Palmigiano A., Innamorati G., Rotondo G., Altimare D., Venturi C., Sviderskaya E.V., Piccirillo R., Coppola M. et al. Hum. Mol. Genet. 17:3487-3501(2008) · Mapped (3) |
| Multiple sulfatase deficiency in a Turkish family resulting from a novel mutation. Yis U., Pepe S., Kurul S.H., Ballabio A., Cosma M.P., Dirik E. Brain Dev. 30:374-377(2008) · Mapped (5) |
| Multistep, sequential control of the trafficking and function of the multiple sulfatase deficiency gene product, SUMF1 by PDI, ERGIC-53 and ERp44. Fraldi A., Zito E., Annunziata F., Lombardi A., Cozzolino M., Monti M., Spampanato C., Ballabio A., Pucci P., Sitia R. et al. Hum. Mol. Genet. 17:2610-2621(2008) · Mapped (18) |
| A block of autophagy in lysosomal storage disorders. Settembre C., Fraldi A., Jahreiss L., Spampanato C., Venturi C., Medina D., de Pablo R., Tacchetti C., Rubinsztein D.C., Ballabio A. Hum. Mol. Genet. 17:119-129(2008) · Mapped (4) |
| Safety of arylsulfatase A overexpression for gene therapy of metachromatic leukodystrophy. Capotondo A., Cesani M., Pepe S., Fasano S., Gregori S., Tononi L., Venneri M.A., Brambilla R., Quattrini A., Ballabio A. et al. Hum. Gene Ther. 18:821-836(2007) · Mapped (5) |
| New mutations identified in the ocular albinism type 1 gene. Roma C., Ferrante P., Guardiola O., Ballabio A., Zollo M. Gene 402:20-27(2007) · Mapped (1) |
| Multiple sulfatase deficiency is due to hypomorphic mutations of the SUMF1 gene. Annunziata I., Bouche V., Lombardi A., Settembre C., Ballabio A. Hum. Mutat. 28:928-928(2007) · Mapped (5) |
| Sulfatase modifying factor 1 trafficking through the cells: from endoplasmic reticulum to the endoplasmic reticulum. Zito E., Buono M., Pepe S., Settembre C., Annunziata I., Surace E.M., Dierks T., Monti M., Cozzolino M., Pucci P. et al. EMBO J. 26:2443-2453(2007) · Mapped (6) |
| Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Fedele A.O., Filocamo M., Di Rocco M., Sersale G., Lubke T., di Natale P., Cosma M.P., Ballabio A. Hum. Mutat. 28:523-523(2007) · Mapped (7) |
| Slc7a7 disruption causes fetal growth retardation by downregulating Igf1 in the mouse model of lysinuric protein intolerance. Sperandeo M.P., Annunziata P., Bozzato A., Piccolo P., Maiuri L., D'Armiento M., Ballabio A., Corso G., Andria G., Borsani G. et al. Am. J. Physiol., Cell Physiol. 293:C191-8(2007) · Mapped (6) |
| Systemic inflammation and neurodegeneration in a mouse model of multiple sulfatase deficiency. Settembre C., Annunziata I., Spampanato C., Zarcone D., Cobellis G., Nusco E., Zito E., Tacchetti C., Cosma M.P., Ballabio A. Proc. Natl. Acad. Sci. U.S.A. 104:4506-4511(2007) · Mapped (1) |
| Filamin A is mutated in X-linked chronic idiopathic intestinal pseudo-obstruction with central nervous system involvement. Gargiulo A., Auricchio R., Barone M.V., Cotugno G., Reardon W., Milla P.J., Ballabio A., Ciccodicola A., Auricchio A. Am. J. Hum. Genet. 80:751-758(2007) · UniProtKB (1) · Mapped (15) |
| Pharmacological enhancement of mutated alpha-glucosidase activity in fibroblasts from patients with Pompe disease. Parenti G., Zuppaldi A., Gabriela Pittis M., Rosaria Tuzzi M., Annunziata I., Meroni G., Porto C., Donaudy F., Rossi B., Rossi M. et al. Mol. Ther. 15:508-514(2007) · Mapped (3) |
| SUMF1 enhances sulfatase activities in vivo in five sulfatase deficiencies. Fraldi A., Biffi A., Lombardi A., Visigalli I., Pepe S., Settembre C., Nusco E., Auricchio A., Naldini L., Ballabio A. et al. Biochem. J. 403:305-312(2007) · Mapped (6) |
| Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome. Zampino G., Pantaleoni F., Carta C., Cobellis G., Vasta I., Neri C., Pogna E.A., De Feo E., Delogu A., Sarkozy A. et al. |
| Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome. Wimplinger I., Morleo M., Rosenberger G., Iaconis D., Orth U., Meinecke P., Lerer I., Ballabio A., Gal A., Franco B. et al. Am. J. Hum. Genet. 79:878-889(2006) · UniProtKB (1) · Mapped (2) |
| A new standard nomenclature for proteins related to Apx and Shroom. Hagens O., Ballabio A., Kalscheuer V., Kraehenbuhl J.-P., Schiaffino M.V., Smith P., Staub O., Hildebrand J.D., Wallingford J.B. BMC Cell Biol. 7:18-18(2006) · UniProtKB (10) |
| Correction of Hunter syndrome in the MPSII mouse model by AAV2/8-mediated gene delivery. Cardone M., Polito V.A., Pepe S., Mann L., D'Azzo A., Auricchio A., Ballabio A., Cosma M.P. Hum. Mol. Genet. 15:1225-1236(2006) · Mapped (2) |
| The ocular albinism type 1 (OA1) gene controls melanosome maturation and size. Cortese K., Giordano F., Surace E.M., Venturi C., Ballabio A., Tacchetti C., Marigo V. Invest. Ophthalmol. Vis. Sci. 46:4358-4364(2005) · Mapped (11) |
| Sulfatases and sulfatase modifying factors: an exclusive and promiscuous relationship. Sardiello M., Annunziata I., Roma G., Ballabio A. Hum. Mol. Genet. 14:3203-3217(2005) · UniProtKB (37) |
| Sulphatase activities are regulated by the interaction of sulphatase-modifying factor 1 with SUMF2. Zito E., Fraldi A., Pepe S., Annunziata I., Kobinger G., Di Natale P., Ballabio A., Cosma M.P. |
| The DNA sequence of the human X chromosome. Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P. et al. Nature 434:325-337(2005) · UniProtKB (1,194) |
| Tagging genes with cassette-exchange sites. Cobellis G., Nicolaus G., Iovino M., Romito A., Marra E., Barbarisi M., Sardiello M., Di Giorgio F.P., Iovino N., Zollo M. et al. Nucleic Acids Res. 33:e44-e44(2005) · Mapped (711) |
