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Papers authored by Ballabio A

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An italian multicenter study for application of a diagnostic algorithm in autoantibody testing.

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Bonaguri C, Melegari A, Dall'Aglio P, Ballabio A, Terenziani P, Russo A, Battistelli L, Aloe R, Camisa R, Campaniello G, Sartori E, and Monica C

Annals of the New York Academy of Sciences 1173:124-9, 2009 Sep - Who cited this? | PubMed ID: 19758140 | Fulltext

A gene network regulating lysosomal biogenesis and function.

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Sardiello M, Palmieri M, di Ronza A, Medina DL, Valenza M, Gennarino VA, Di Malta C, Donaudy F, Embrione V, Polishchuk RS, Banfi S, Parenti G, Cattaneo E, and Ballabio A

Science (New York, N.Y.) 325(5939):473-7, 2009 Jul 24 - Who cited this? | PubMed ID: 19556463 | Fulltext

Lysosomal disorders: From storage to cellular damage.

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Ballabio A and Gieselmann V

Biochimica et biophysica acta 1793(4):684-96, 2009 Apr - Who cited this? | PubMed ID: 19111581 | Fulltext

MicroRNA target prediction by expression analysis of host genes.

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Gennarino VA, Sardiello M, Avellino R, Meola N, Maselli V, Anand S, Cutillo L, Ballabio A, and Banfi S

Genome research 19(3):481-90, 2009 Mar - Who cited this? | PubMed ID: 19088304 | Fulltext

Self-eating in skeletal development: Implications for lysosomal storage disorders.

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Settembre C, Arteaga-Solis E, Ballabio A, and Karsenty G

Autophagy 5(2):228-9, 2009 Feb - Who cited this? | PubMed ID: 19029806 | Fulltext

Proteoglycan desulfation determines the efficiency of chondrocyte autophagy and the extent of FGF signaling during endochondral ossification.

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Settembre C, Arteaga-Solis E, McKee MD, de Pablo R, Al Awqati Q, Ballabio A, and Karsenty G

Genes & development 22(19):2645-50, 2008 Oct 1 - Who cited this? | PubMed ID: 18832069 | Fulltext

Multistep, sequential control of the trafficking and function of the multiple sulfatase deficiency gene product, SUMF1 by PDI, ERGIC-53 and ERp44.

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Fraldi A, Zito E, Annunziata F, Lombardi A, Cozzolino M, Monti M, Spampanato C, Ballabio A, Pucci P, Sitia R, and Cosma MP

Human molecular genetics 17(17):2610-21, 2008 Sep 1 - Who cited this? | PubMed ID: 18508857 | Fulltext

THE OCULAR ALBINISM TYPE 1 (OA1) PROTEIN, AN INTRACELLULAR G PROTEIN-COUPLED RECEPTOR, REGULATES MELANOSOME TRANSPORT IN PIGMENT CELLS.

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Palmisano I, Bagnato P, Palmigiano A, Innamorati G, Rotondo G, Altimare D, Venturi C, Sviderskaya EV, Piccirillo R, Coppola M, Marigo V, Incerti B, Ballabio A, Surace EM, Tacchetti C, Bennett DC,

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Human molecular genetics, 2008 Aug 12 - Who cited this? | PubMed ID: 18697795 | Fulltext

Genomic analysis of the TRIM family reveals two groups of genes with distinct evolutionary properties.

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Sardiello M, Cairo S, Fontanella B, Ballabio A, and Meroni G

BMC evolutionary biology 8(1):225, 2008 Aug 1 - Who cited this? | PubMed ID: 18673550 | Fulltext

Multiple sulfatase deficiency in a Turkish family resulting from a novel mutation.

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Yiş U, Pepe S, Kurul SH, Ballabio A, Cosma MP, and Dirik E

Brain & development 30(5):374-7, 2008 May - Who cited this? | PubMed ID: 18509892 | Fulltext

Guidelines for the use and interpretation of assays for monitoring autophagy in higher eukaryotes.

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Klionsky DJ, Abeliovich H, Agostinis P, Agrawal DK, Aliev G, Askew DS, Baba M, Baehrecke EH, Bahr BA, Ballabio A, Bamber BA, Bassham DC, Bergamini E, Bi X, Biard-Piechaczyk M, Blum JS,

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Autophagy 4(2):151 - Who cited this? | PubMed ID: 18188003 | Fulltext

Lysosomal storage diseases as disorders of autophagy.

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Settembre C, Fraldi A, Rubinsztein DC, and Ballabio A

Autophagy 4(1):113-4, 2008 - Who cited this? | PubMed ID: 18000397 | Fulltext

A block of autophagy in lysosomal storage disorders.

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Settembre C, Fraldi A, Jahreiss L, Spampanato C, Venturi C, Medina D, de Pablo R, Tacchetti C, Rubinsztein DC, and Ballabio A

Human molecular genetics 17(1):119-29, 2008 Jan 1 - Who cited this? | PubMed ID: 17913701 | Fulltext

Welcome to PathoGenetics.

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Ballabio A and Antonarakis S

PathoGenetics 1(1):1, 2008 - Who cited this? | PubMed ID: 19014665 | Fulltext

Functional correction of CNS lesions in an MPS-IIIA mouse model by intracerebral AAV-mediated delivery of sulfamidase and SUMF1 genes.

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Fraldi A, Hemsley K, Crawley A, Lombardi A, Lau A, Sutherland L, Auricchio A, Ballabio A, and Hopwood JJ

Human molecular genetics 16(22):2693-702, 2007 Nov 15 - Who cited this? | PubMed ID: 17725987 | Fulltext

New mutations identified in the ocular albinism type 1 gene.

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Roma C, Ferrante P, Guardiola O, Ballabio A, and Zollo M

Gene 402(1-2):20, 2007 Nov 1 - Who cited this? | PubMed ID: 17822861 | Fulltext

Multiple sulfatase deficiency is due to hypomorphic mutations of the SUMF1 gene.

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Annunziata I, Bouchè V, Lombardi A, Settembre C, and Ballabio A

Human mutation 28(9):928, 2007 Sep - Who cited this? | PubMed ID: 17657823 | Fulltext

Safety of arylsulfatase A overexpression for gene therapy of metachromatic leukodystrophy.

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Capotondo A, Cesani M, Pepe S, Fasano S, Gregori S, Tononi L, Venneri MA, Brambilla R, Quattrini A, Ballabio A, Cosma MP, Naldini L, and Biffi A

Human gene therapy 18(9):821-36, 2007 Sep - Who cited this? | PubMed ID: 17845130 | Fulltext

Slc7a7 disruption causes fetal growth retardation by downregulating Igf1 in the mouse model of lysinuric protein intolerance.

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Sperandeo MP, Annunziata P, Bozzato A, Piccolo P, Maiuri L, D'Armiento M, Ballabio A, Corso G, Andria G, Borsani G, and Sebastio G

American journal of physiology. Cell physiology 293(1):C191-8, 2007 Jul - Who cited this? | PubMed ID: 17376816 | Fulltext

Sulfatase modifying factor 1 trafficking through the cells: from endoplasmic reticulum to the endoplasmic reticulum.

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Zito E, Buono M, Pepe S, Settembre C, Annunziata I, Surace EM, Dierks T, Monti M, Cozzolino M, Pucci P, Ballabio A, and Cosma MP

The EMBO journal 26(10):2443-53, 2007 May 16 - Who cited this? | PubMed ID: 17446859 | Fulltext

Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Mutation in brief #959. Online.

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Fedele AO, Filocamo M, Di Rocco M, Sersale G, Lübke T, di Natale P, Cosma MP, and Ballabio A

Human mutation 28(5):523, 2007 May - Who cited this? | PubMed ID: 17397050 | Fulltext

SUMF1 enhances sulfatase activities in vivo in five sulfatase deficiencies.

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Fraldi A, Biffi A, Lombardi A, Visigalli I, Pepe S, Settembre C, Nusco E, Auricchio A, Naldini L, Ballabio A, and Cosma MP

The Biochemical journal 403(2):305-12, 2007 Apr 15 - Who cited this? | PubMed ID: 17206939 | Fulltext

Filamin A is mutated in X-linked chronic idiopathic intestinal pseudo-obstruction with central nervous system involvement.

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Gargiulo A, Auricchio R, Barone MV, Cotugno G, Reardon W, Milla PJ, Ballabio A, Ciccodicola A, and Auricchio A

American journal of human genetics 80(4):751, 2007 Apr - Who cited this? | PubMed ID: 17357080 | Fulltext

Systemic inflammation and neurodegeneration in a mouse model of multiple sulfatase deficiency.

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Settembre C, Annunziata I, Spampanato C, Zarcone D, Cobellis G, Nusco E, Zito E, Tacchetti C, Cosma MP, and Ballabio A

Proceedings of the National Academy of Sciences of the United States of America 104(11):4506-11, 2007 Mar 13 - Who cited this? | PubMed ID: 17360554 | Fulltext

Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome.

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Zampino G, Pantaleoni F, Carta C, Cobellis G, Vasta I, Neri C, Pogna EA, De Feo E, Delogu A, Sarkozy A, Atzeri F, Selicorni A, Rauen KA, Cytrynbaum CS, Weksberg R, Dallapiccola B,

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Human mutation 28(3):265-72, 2007 Mar - Who cited this? | PubMed ID: 17054105 | Fulltext

Pharmacological Enhancement of Mutated alpha-Glucosidase Activity in Fibroblasts from Patients with Pompe Disease.

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Parenti G, Zuppaldi A, Gabriela Pittis M, Rosaria Tuzzi M, Annunziata I, Meroni G, Porto C, Donaudy F, Rossi B, Rossi M, Filocamo M, Donati A, Bembi B, Ballabio A, and Andria G

Molecular therapy : the journal of the American Society of Gene Therapy 15(3):508-14, 2007 Mar - Who cited this? | PubMed ID: 17213836 | Fulltext

Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome.

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Wimplinger I, Morleo M, Rosenberger G, Iaconis D, Orth U, Meinecke P, Lerer I, Ballabio A, Gal A, Franco B, and Kutsche K

American journal of human genetics 79(5):878-89, 2006 Nov - Who cited this? | PubMed ID: 17033964 | Fulltext

X-inactivation and human disease: X-linked dominant male-lethal disorders.

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Franco B and Ballabio A

Current opinion in genetics & development 16(3):254-9, 2006 Jun - Who cited this? | PubMed ID: 16650755 | Fulltext

Aberrant splicing in the ocular albinism type 1 gene (OA1/GPR143) is corrected in vitro by morpholino antisense oligonucleotides.

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Vetrini F, Tammaro R, Bondanza S, Surace EM, Auricchio A, De Luca M, Ballabio A, and Marigo V

Human mutation 27(5):420-6, 2006 May - Who cited this? | PubMed ID: 16550551 | Fulltext

Correction of Hunter syndrome in the MPSII mouse model by AAV2/8-mediated gene delivery.

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Cardone M, Polito VA, Pepe S, Mann L, d'Azzo A, Auricchio A, Ballabio A, and Cosma MP

Human molecular genetics 15(7):1225, 2006 Apr 1 - Who cited this? | PubMed ID: 16505002 | Fulltext

A new standard nomenclature for proteins related to Apx and Shroom.

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Hagens O, Ballabio A, Kalscheuer V, Kraehenbuhl JP, Schiaffino MV, Smith P, Staub O, Hildebrand J, and Wallingford JB

BMC cell biology 7:18, 2006 - Who cited this? | PubMed ID: 16615870 | Fulltext

The ocular albinism type 1 (OA1) gene controls melanosome maturation and size.

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Cortese K, Giordano F, Surace EM, Venturi C, Ballabio A, Tacchetti C, and Marigo V

Investigative ophthalmology & visual science 46(12):4358-64, 2005 Dec - Who cited this? | PubMed ID: 16303920 | Fulltext

Sulfatases and sulfatase modifying factors: an exclusive and promiscuous relationship.

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Sardiello M, Annunziata I, Roma G, and Ballabio A

Human molecular genetics 14(21):3203-17, 2005 Nov 1 - Who cited this? | PubMed ID: 16174644 | Fulltext

Amelioration of both functional and morphological abnormalities in the retina of a mouse model of ocular albinism following AAV-mediated gene transfer.

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Surace EM, Domenici L, Cortese K, Cotugno G, Di Vicino U, Venturi C, Cellerino A, Marigo V, Tacchetti C, Ballabio A, and Auricchio A

Molecular therapy : the journal of the American Society of Gene Therapy 12(4):652-8, 2005 Oct - Who cited this? | PubMed ID: 16023414 | Fulltext

Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization of 11 cases.

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Morleo M, Pramparo T, Perone L, Gregato G, Le Caignec C, Mueller RF, Ogata T, Raas-Rothschild A, de Blois MC, Wilson LC, Zaidman G, Zuffardi O, Ballabio A, and Franco B

American journal of medical genetics. Part A 137(2):190-8, 2005 Aug 30 - Who cited this? | PubMed ID: 16059943 | Fulltext

Telencephalic embryonic subtractive sequences: a unique collection of neurodevelopmental genes.

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Bulfone A, Carotenuto P, Faedo A, Aglio V, Garzia L, Bello AM, Basile A, Andrè A, Cocchia M, Guardiola O, Ballabio A, Rubenstein JL, and Zollo M

The Journal of neuroscience : the official journal of the Society for Neuroscience 25(33):7586, 2005 Aug 17 - Who cited this? | PubMed ID: 16107646 | Fulltext

Sulphatase activities are regulated by the interaction of sulphatase-modifying factor 1 with SUMF2.

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Zito E, Fraldi A, Pepe S, Annunziata I, Kobinger G, Di Natale P, Ballabio A, and Cosma MP

EMBO reports 6(7):655-60, 2005 Jul - Who cited this? | PubMed ID: 15962010 | Fulltext

The DNA sequence of the human X chromosome.

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Ross MT, Grafham DV, Coffey AJ, Scherer S, McLay K, Muzny D, Platzer M, Howell GR, Burrows C, Bird CP, Frankish A, Lovell FL, Howe KL, Ashurst JL, Fulton RS, Sudbrak R,

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Nature 434(7031):325, 2005 Mar 17 - Who cited this? | PubMed ID: 15772651 | Fulltext

DG-CST (Disease Gene Conserved Sequence Tags), a database of human-mouse conserved elements associated to disease genes.

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Boccia A, Petrillo M, di Bernardo D, Guffanti A, Mignone F, Confalonieri S, Luzi L, Pesole G, Paolella G, Ballabio A, and Banfi S

Nucleic acids research 33(Database issue), 2005 Jan 1 - Who cited this? | PubMed ID: 15608249 | Fulltext

Tagging genes with cassette-exchange sites.

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Cobellis G, Nicolaus G, Iovino M, Romito A, Marra E, Barbarisi M, Sardiello M, Di Giorgio FP, Iovino N, Zollo M, Ballabio A, and Cortese R

Nucleic acids research 33(4):e44, 2005 - Who cited this? | PubMed ID: 15741177 | Fulltext

Sulfatases and human disease.

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Diez-Roux G and Ballabio A

Annual review of genomics and human genetics 6:355-79, 2005 - Who cited this? | PubMed ID: 16124866 | Fulltext

The European dimension for the mouse genome mutagenesis program.

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Auwerx J, Avner P, Baldock R, Ballabio A, Balling R, Barbacid M, Berns A, Bradley A, Brown S, Carmeliet P, Chambon P, Cox R, Davidson D, Davies K, Duboule D, Forejt J,

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Nature genetics 36(9):925-7, 2004 Sep - Who cited this? | PubMed ID: 15340424 | Fulltext

The microphthalmia transcription factor (Mitf) controls expression of the ocular albinism type 1 gene: link between melanin synthesis and melanosome biogenesis.

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Vetrini F, Auricchio A, Du J, Angeletti B, Fisher DE, Ballabio A, and Marigo V

Molecular and cellular biology 24(15):6550-9, 2004 Aug - Who cited this? | PubMed ID: 15254223 | Fulltext

Identification and biochemical characterization of an avian sulfatase homologous to the human ARSE, the gene for X-linked chondrodysplasia punctata.

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Ferrante P, Messali S, Ballabio A, and Meroni G

Gene 336(2):155-61, 2004 Jul 21 - Who cited this? | PubMed ID: 15246527 | Fulltext

Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency.

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Cosma MP, Pepe S, Parenti G, Settembre C, Annunziata I, Wade-Martins R, Di Domenico C, Di Natale P, Mankad A, Cox B, Uziel G, Mancini GM, Zammarchi E, Donati MA, Kleijer WJ, Filocamo M,

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Human mutation 23(6):576-81, 2004 Jun - Who cited this? | PubMed ID: 15146462 | Fulltext

Molecular cloning and characterization of NEU4, the fourth member of the human sialidase gene family.

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Monti E, Bassi MT, Bresciani R, Civini S, Croci GL, Papini N, Riboni M, Zanchetti G, Ballabio A, Preti A, Tettamanti G, Venerando B, and Borsani G

Genomics 83(3):445-53, 2004 Mar - Who cited this? | PubMed ID: 14962670 | Fulltext

Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport.

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Ferreirinha F, Quattrini A, Pirozzi M, Valsecchi V, Dina G, Broccoli V, Auricchio A, Piemonte F, Tozzi G, Gaeta L, Casari G, Ballabio A, and Rugarli EI

The Journal of clinical investigation 113(2):231-42, 2004 Jan - Who cited this? | PubMed ID: 14722615 | Fulltext

Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia.

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Atorino L, Silvestri L, Koppen M, Cassina L, Ballabio A, Marconi R, Langer T, and Casari G

The Journal of cell biology 163(4):777-87, 2003 Nov 24 - Who cited this? | PubMed ID: 14623864 | Fulltext

X-linked Opitz syndrome: novel mutations in the MID1 gene and redefinition of the clinical spectrum.

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De Falco F, Cainarca S, Andolfi G, Ferrentino R, Berti C, Rodríguez Criado G, Rittinger O, Dennis N, Odent S, Rastogi A, Liebelt J, Chitayat D, Winter R, Jawanda H, Ballabio A, Franco B,

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American journal of medical genetics. Part A 120(2):222-8, 2003 Jul 15 - Who cited this? | PubMed ID: 12833403 | Fulltext

The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases.

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Cosma MP, Pepe S, Annunziata I, Newbold RF, Grompe M, Parenti G, and Ballabio A

Cell 113(4):445-56, 2003 May 16 - Who cited this? | PubMed ID: 12757706 | Fulltext

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