Andrea Ballabio

Summary

Affiliation: Telethon Institute of Genetics and Medicine
Country: Italy

Publications

  1. ncbi request reprint Disease pathogenesis explained by basic science: lysosomal storage diseases as autophagocytic disorders
    A Ballabio
    Telethon Institute of Genetics and Medicine, Napoli, Italy
    Int J Clin Pharmacol Ther 47:S34-8. 2009
  2. pmc Systems medicine and integrated care to combat chronic noncommunicable diseases
    Jean Bousquet
    Department of Respiratory Diseases, Arnaud de Villeneuve Hospital, CHU Montpellier, INSERM CESP U1018, Villejuif, France
    Genome Med 3:43. 2011
  3. pmc A mouse embryonic stem cell bank for inducible overexpression of human chromosome 21 genes
    Rossella De Cegli
    Telethon Institute of Genetics and Medicine, Via P, Castellino 111, Napoli, 80131, Italy
    Genome Biol 11:R64. 2010
  4. pmc Transcriptional activation of lysosomal exocytosis promotes cellular clearance
    Diego L Medina
    Telethon Institute of Genetics and Medicine TIGEM, Via P Castellino 111, 80131 Naples, Italy
    Dev Cell 21:421-30. 2011
  5. pmc Genomic analysis of the TRIM family reveals two groups of genes with distinct evolutionary properties
    Marco Sardiello
    Telethon Institute of Genetics and Medicine, Via P, Castellino 111, 80131 Naples, Italy
    BMC Evol Biol 8:225. 2008
  6. pmc A new standard nomenclature for proteins related to Apx and Shroom
    Olivier Hagens
    Dept of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany
    BMC Cell Biol 7:18. 2006
  7. pmc Welcome to PathoGenetics
    Andrea Ballabio
    Telethon Institute of Genetics and Medicine, Napoli, Italy
    Pathogenetics 1:1. 2008
  8. pmc Efficacy of a combined intracerebral and systemic gene delivery approach for the treatment of a severe lysosomal storage disorder
    Carmine Spampanato
    Telethon Institute of Genetics and Medicine, Naples, Italy
    Mol Ther 19:860-9. 2011
  9. pmc Gene transfer of master autophagy regulator TFEB results in clearance of toxic protein and correction of hepatic disease in alpha-1-anti-trypsin deficiency
    Nunzia Pastore
    Telethon Institute of Genetics and Medicine, Naples, Italy
    EMBO Mol Med 5:397-412. 2013
  10. ncbi request reprint Functional correction of CNS lesions in an MPS-IIIA mouse model by intracerebral AAV-mediated delivery of sulfamidase and SUMF1 genes
    Alessandro Fraldi
    Telethon Institute of Genetics and Medicine, 80131 Naples, Italy
    Hum Mol Genet 16:2693-702. 2007

Research Grants

Detail Information

Publications49

  1. ncbi request reprint Disease pathogenesis explained by basic science: lysosomal storage diseases as autophagocytic disorders
    A Ballabio
    Telethon Institute of Genetics and Medicine, Napoli, Italy
    Int J Clin Pharmacol Ther 47:S34-8. 2009
    ....
  2. pmc Systems medicine and integrated care to combat chronic noncommunicable diseases
    Jean Bousquet
    Department of Respiratory Diseases, Arnaud de Villeneuve Hospital, CHU Montpellier, INSERM CESP U1018, Villejuif, France
    Genome Med 3:43. 2011
    ..This systems medicine strategy, which will take a holistic approach to disease, is designed to allow the results to be used globally, taking into account the needs and specificities of local economies and health systems...
  3. pmc A mouse embryonic stem cell bank for inducible overexpression of human chromosome 21 genes
    Rossella De Cegli
    Telethon Institute of Genetics and Medicine, Via P, Castellino 111, Napoli, 80131, Italy
    Genome Biol 11:R64. 2010
    ..Dosage imbalance is responsible for several genetic diseases, among which Down syndrome is caused by the trisomy of human chromosome 21...
  4. pmc Transcriptional activation of lysosomal exocytosis promotes cellular clearance
    Diego L Medina
    Telethon Institute of Genetics and Medicine TIGEM, Via P Castellino 111, 80131 Naples, Italy
    Dev Cell 21:421-30. 2011
    ..Our data indicate that lysosomal exocytosis may directly modulate cellular clearance and suggest an alternative therapeutic strategy for disorders associated with intracellular storage...
  5. pmc Genomic analysis of the TRIM family reveals two groups of genes with distinct evolutionary properties
    Marco Sardiello
    Telethon Institute of Genetics and Medicine, Via P, Castellino 111, 80131 Naples, Italy
    BMC Evol Biol 8:225. 2008
    ..TRIM genes are involved in ubiquitylation and are implicated in a variety of human pathologies, from Mendelian inherited disorders to cancer, and are also involved in cellular response to viral infection...
  6. pmc A new standard nomenclature for proteins related to Apx and Shroom
    Olivier Hagens
    Dept of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany
    BMC Cell Biol 7:18. 2006
    ..At present these proteins are named Shroom, APX, APXL, and KIAA1202. In light of the growing interest in this family of proteins, we propose here a new standard nomenclature...
  7. pmc Welcome to PathoGenetics
    Andrea Ballabio
    Telethon Institute of Genetics and Medicine, Napoli, Italy
    Pathogenetics 1:1. 2008
    ..The study of abnormal conditions is of crucial importance for the understanding of normal physiology and often provides us with the rationale for the development of novel therapeutic strategies...
  8. pmc Efficacy of a combined intracerebral and systemic gene delivery approach for the treatment of a severe lysosomal storage disorder
    Carmine Spampanato
    Telethon Institute of Genetics and Medicine, Naples, Italy
    Mol Ther 19:860-9. 2011
    ..Furthermore, behavioral abilities were improved by the combined treatment. These results underscore that the "combined" mode of rAAV9 vector administration is an efficient option for the treatment of severe whole-body disorders...
  9. pmc Gene transfer of master autophagy regulator TFEB results in clearance of toxic protein and correction of hepatic disease in alpha-1-anti-trypsin deficiency
    Nunzia Pastore
    Telethon Institute of Genetics and Medicine, Naples, Italy
    EMBO Mol Med 5:397-412. 2013
    ..This study may pave the way towards applications of TFEB gene transfer for treatment of a wide spectrum of human disorders due to intracellular accumulation of toxic proteins...
  10. ncbi request reprint Functional correction of CNS lesions in an MPS-IIIA mouse model by intracerebral AAV-mediated delivery of sulfamidase and SUMF1 genes
    Alessandro Fraldi
    Telethon Institute of Genetics and Medicine, 80131 Naples, Italy
    Hum Mol Genet 16:2693-702. 2007
    ..Our results suggest that early treatment of CNS lesions by AAV-mediated intraventricular injection of both SGSH and SUMF1 genes may represent a feasible therapy for MPS-IIIA...
  11. pmc Astrocyte dysfunction triggers neurodegeneration in a lysosomal storage disorder
    Chiara Di Malta
    Telethon Institute of Genetics and Medicine, 80131 Naples, Italy
    Proc Natl Acad Sci U S A 109:E2334-42. 2012
    ..This study indicates that astrocytes are integral components of the neuropathology in MSD and that modulation of astrocyte function may impact disease course...
  12. pmc Impaired parkin-mediated mitochondrial targeting to autophagosomes differentially contributes to tissue pathology in lysosomal storage diseases
    Raquel de Pablo-Latorre
    Telethon Institute of Genetics and Medicine, Naples 80131, Italy
    Hum Mol Genet 21:1770-81. 2012
    ..Together, these data shed new light on the mechanisms underlying mitochondrial dysfunction in LSDs and on their tissue-specific differential contribution to the pathogenesis of this group of metabolic disorders...
  13. doi request reprint Multistep, sequential control of the trafficking and function of the multiple sulfatase deficiency gene product, SUMF1 by PDI, ERGIC-53 and ERp44
    Alessandro Fraldi
    Telethon Institute of Genetics and Medicine, Naples, Italy
    Hum Mol Genet 17:2610-21. 2008
    ..When over-expressed, each of three interactors favors intracellular accumulation. Our results reveal a multistep control of SUMF1 trafficking, with sequential interactions dynamically determining ER localization, activity and secretion...
  14. ncbi request reprint The Kallmann syndrome gene homolog in C. elegans is involved in epidermal morphogenesis and neurite branching
    Elena I Rugarli
    Telethon Institute of Genetics and Medicine TIGEM, via P Castellino III, 80131 Naples, Italy
    Development 129:1283-94. 2002
    ..Our findings add a new player to the set of molecules, which appear to underlie both morphogenesis and axonal/neuronal navigation in vertebrates and invertebrates...
  15. ncbi request reprint Sulfatases and human disease
    Graciana Diez-Roux
    Telethon Institute of Genetics and Medicine TIGEM, Department of Pediatrics, Federico II University, Naples 80131, Italy
    Annu Rev Genomics Hum Genet 6:355-79. 2005
    ..Here we review current knowledge and future perspectives on the evolution of the sulfatase gene family, on the role of these enzymes in human metabolism, and on new developments in the therapy of sulfatase deficiencies...
  16. pmc A lysosome-to-nucleus signalling mechanism senses and regulates the lysosome via mTOR and TFEB
    Carmine Settembre
    Telethon Institute of Genetics and Medicine, Naples, Italy
    EMBO J 31:1095-108. 2012
    ..These data indicate that the lysosome senses its content and regulates its own biogenesis by a lysosome-to-nucleus signalling mechanism that involves TFEB and mTOR...
  17. ncbi request reprint Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Mutation in brief #959. Online
    Anthony Olind Fedele
    Telethon Institute of Genetics and Medicine, Naples, Italy
    Hum Mutat 28:523. 2007
    ..This research will aid in determining the molecular basis of HGSNAT protein function, and the mechanisms underlying MPS IIIC...
  18. ncbi request reprint Correction of Hunter syndrome in the MPSII mouse model by AAV2/8-mediated gene delivery
    Monica Cardone
    Telethon Institute of Genetics and Medicine, Naples, Italy
    Hum Mol Genet 15:1225-36. 2006
    ..Overall, our findings suggest that this in vivo gene transfer approach has potential for the systemic treatment of patients with Hunter syndrome...
  19. doi request reprint TFEB regulates autophagy: an integrated coordination of cellular degradation and recycling processes
    Carmine Settembre
    Telethon Institute of Genetics and Medicine, Naples, Italy
    Autophagy 7:1379-81. 2011
    ..Our findings reveal an important role of transcription in the regulation of starvation-induced autophagy, and link lysosomal biogenesis to autophagy...
  20. ncbi request reprint Amelioration of both functional and morphological abnormalities in the retina of a mouse model of ocular albinism following AAV-mediated gene transfer
    Enrico Maria Surace
    Telethon Institute of Genetics and Medicine, Naples, Italy
    Mol Ther 12:652-8. 2005
    ....
  21. pmc Identification of microRNA-regulated gene networks by expression analysis of target genes
    Vincenzo Alessandro Gennarino
    Telethon Institute of Genetics and Medicine, Naples, Italy
    Genome Res 22:1163-72. 2012
    ..Based on these findings, we formalize and propose co-expression analysis as a general paradigm for second-generation procedures to recognize bona fide targets and infer biological roles and network communities of miRNAs...
  22. doi request reprint A gene network regulating lysosomal biogenesis and function
    Marco Sardiello
    Telethon Institute of Genetics and Medicine, Via P Castellino 111, 80131 Naples, Italy
    Science 325:473-7. 2009
    ..Thus, a genetic program controls lysosomal biogenesis and function, providing a potential therapeutic target to enhance cellular clearing in lysosomal storage disorders and neurodegenerative diseases...
  23. ncbi request reprint Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency
    Maria Pia Cosma
    Telethon Institute of Genetics and Medicine, Naples, Italy
    Hum Mutat 23:576-81. 2004
    ..This study compares, for the first time, clinical, biochemical, and molecular data in MSD patients. Our results show lack of a direct correlation between the type of molecular defect and the severity of phenotype...
  24. pmc Filamin A is mutated in X-linked chronic idiopathic intestinal pseudo-obstruction with central nervous system involvement
    Annagiusi Gargiulo
    Telethon Institute of Genetics and Medicine, Naples, Italy
    Am J Hum Genet 80:751-8. 2007
    ..We conclude that the filamin N terminal region between the initial two methionines is crucial for proper enteric neuron development...
  25. ncbi request reprint TRIM9 is specifically expressed in the embryonic and adult nervous system
    Caterina Berti
    Telethon Institute of Genetics and Medicine, Via P Castellino, 111, 80131, Naples, Italy
    Mech Dev 113:159-62. 2002
    ..In adult brain, TRIM9 is detected in the Purkinje cells of the cerebellum, in the hippocampus, and in the cortex...
  26. ncbi request reprint Molecular and biochemical characterisation of a novel sulphatase gene: Arylsulfatase G (ARSG)
    Paola Ferrante
    Telethon Institute of Genetics and Medicine, Via P Castellino 111, 80131 Naples, Italy
    Eur J Hum Genet 10:813-8. 2002
    ..Further studies are needed to characterise the function of Arylsulfatase G, possibly revealing a novel metabolic pathway...
  27. ncbi request reprint The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases
    Maria Pia Cosma
    Telethon Institute of Genetics and Medicine TIGEM, Naples, Italy
    Cell 113:445-56. 2003
    ..These data have profound implications on the feasibility of enzyme replacement therapy for eight distinct inborn errors of metabolism...
  28. ncbi request reprint Identification and biochemical characterization of an avian sulfatase homologous to the human ARSE, the gene for X-linked chondrodysplasia punctata
    Paola Ferrante
    Telethon Institute of Genetics and Medicine c o Area della Ricerca del CNR, Via P Castellino 111, Naples 80131, Italy
    Gene 336:155-61. 2004
    ..The identification of the ARSE chicken gene is an important step for the study of its natural substrate and its role during development...
  29. pmc The microphthalmia transcription factor (Mitf) controls expression of the ocular albinism type 1 gene: link between melanin synthesis and melanosome biogenesis
    Francesco Vetrini
    Telethon Institute of Genetics and Medicine TIGEM, Via P Castellino 111, 80131 Naples, Italy
    Mol Cell Biol 24:6550-9. 2004
    ..The results obtained with this viral system are a preamble to the development of new gene delivery approaches for the treatment of retinal pigment epithelium defects...
  30. pmc Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia
    Luigia Atorino
    Human Molecular Genetics Unit, DIBIT San Raffaele Scientific Institute, 20132 Milan, Italy
    J Cell Biol 163:777-87. 2003
    ..These results shed new light on the molecular pathogenesis of HSP and functionally link AFG3L2 to this neurodegenerative disease...
  31. ncbi request reprint Human chromosome 21 gene expression atlas in the mouse
    Alexandre Reymond
    Division of Medical Genetics, University of Geneva Medical School and University Hospital of Geneva, CMU, 1, rue Michel Servet, 1211 Geneva, Switzerland
    Nature 420:582-6. 2002
    ..This high resolution expression 'atlas' of an entire human chromosome is an important step towards the understanding of gene function and of the pathogenetic mechanisms in Down's syndrome...
  32. ncbi request reprint Isolation of Crb1, a mouse homologue of Drosophila crumbs, and analysis of its expression pattern in eye and brain
    Anneke I den Hollander
    Department of Human Genetics, University Medical Centre Nijmegen, P O Box 9101, 6500 HB Nijmegen, The Netherlands
    Mech Dev 110:203-7. 2002
    ..2. In the adult brain, Crb1 expression is defined to areas where the production and migration of neurons occurs in adulthood...
  33. ncbi request reprint Vax2 inactivation in mouse determines alteration of the eye dorsal-ventral axis, misrouting of the optic fibres and eye coloboma
    Anna Maria Barbieri
    Telethon Institute of Genetics and Medicine TIGEM, Via Pietro Castellino 111, Naples, Italy
    Development 129:805-13. 2002
    ....
  34. pmc Proteoglycan desulfation determines the efficiency of chondrocyte autophagy and the extent of FGF signaling during endochondral ossification
    Carmine Settembre
    Department of Genetics and Development, College of Physicians and Surgeons, Columbia University, New York, New York 10032, USA
    Genes Dev 22:2645-50. 2008
    ..Conversely, in chondrocytes it favors ECM production and autophagy and promotes proliferation and differentiation by limiting FGF signaling. Thus, proteoglycan desulfation is a critical regulator of chondrogenesis...
  35. pmc The ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells
    Ilaria Palmisano
    San Raffaele Scientific Institute, DIBIT, Milan, Italy
    Hum Mol Genet 17:3487-501. 2008
    ....
  36. pmc The European dimension for the mouse genome mutagenesis program
    Johan Auwerx
    Mouse Clinical Institute MCI, Illkirch, Strasbourg, France corrected
    Nat Genet 36:925-7. 2004
    ..The combined efforts will accelerate our understanding of gene function and of human health and disease...
  37. pmc SUMF1 enhances sulfatase activities in vivo in five sulfatase deficiencies
    Alessandro Fraldi
    Telethon Institute of Genetics and Medicine TIGEM, Via P Castellino, 111, 80131 Naples, Italy
    Biochem J 403:305-12. 2007
    ..These results indicate that co-delivery of SUMF1 may enhance the efficacy of gene therapy in several sulfatase deficiencies...
  38. pmc Systemic inflammation and neurodegeneration in a mouse model of multiple sulfatase deficiency
    Carmine Settembre
    Telethon Institute of Genetics and Medicine TIGEM, Via P Castellino 111, 80131 Naples, Italy
    Proc Natl Acad Sci U S A 104:4506-11. 2007
    ..This mouse model, in which the function of an entire protein family has been silenced, offers a unique opportunity to study sulfatase function and the mechanisms underlying lysosomal storage diseases...
  39. ncbi request reprint Slc7a7 disruption causes fetal growth retardation by downregulating Igf1 in the mouse model of lysinuric protein intolerance
    Maria Pia Sperandeo
    Dept of Pediatrics, Federico II University, Via Sergio Pansini 5, 80131 Naples, Italy
    Am J Physiol Cell Physiol 293:C191-8. 2007
    ..This mouse model offers new insights into the pathophysiology of LPI and into mechanisms linking CAA metabolic pathways and growth control...
  40. pmc Sulphatase activities are regulated by the interaction of sulphatase-modifying factor 1 with SUMF2
    Ester Zito
    Telethon Institute of Genetics and Medicine TIGEM, Via P Castellino, 111, Naples, Italy
    EMBO Rep 6:655-60. 2005
    ..Here, we show that SUMF2 inhibits the enhancing effects of SUMF1 on sulphatases, suggesting that the SUMF1-SUMF2 interaction represents a further level of control of these sulphatase activities...
  41. pmc Sulfatase modifying factor 1 trafficking through the cells: from endoplasmic reticulum to the endoplasmic reticulum
    Ester Zito
    Telethon Institute of Genetics and Medicine TIGEM, Naples, Italy
    EMBO J 26:2443-53. 2007
    ..Remarkably, once taken up and relocalized into the ER, SUMF1 is still active, enhancing the sulfatase activities in both cultured cells and mice tissues...
  42. ncbi request reprint Multiple sulfatase deficiency is due to hypomorphic mutations of the SUMF1 gene
    Ida Annunziata
    Telethon Institute of Genetics and Medicine TIGEM, Naples, Italy
    Hum Mutat 28:928. 2007
    ..These data indicate that MSD is due to hypomorphic SUMF1 mutations and suggest that complete loss of SUMF1 function is likely to be lethal in humans...
  43. pmc The DNA sequence of the human X chromosome
    Mark T Ross
    The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK
    Nature 434:325-37. 2005
    ..Of this number, 168 have been explained by mutations in 113 X-linked genes, which in many cases were characterized with the aid of the DNA sequence...
  44. ncbi request reprint A block of autophagy in lysosomal storage disorders
    Carmine Settembre
    Telethon Institute of Genetics and Medicine TIGEM, Naples, Italy
    Hum Mol Genet 17:119-29. 2008
    ..These data identify LSDs as 'autophagy disorders' and suggest the presence of common mechanisms in the pathogenesis of these and other neurodegenerative diseases...
  45. ncbi request reprint Lysosomal storage diseases as disorders of autophagy
    Carmine Settembre
    Telethon Institute of Genetics and Medicine TIGEM, Naples, Italy
    Autophagy 4:113-4. 2008
    ..These findings suggest that neurodegeneration in LSDs may share some mechanisms with late-onset neurodegenerative disorders in which the accumulation of protein aggregates is a prominent feature...
  46. pmc Guidelines for the use and interpretation of assays for monitoring autophagy in higher eukaryotes
    Daniel J Klionsky
    Life Sciences Institute, University of Michigan, Ann Arbor, Michigan 48109 2216, USA
    Autophagy 4:151-75. 2008
    ..In addition, we emphasize that no individual assay is guaranteed to be the most appropriate one in every situation, and we strongly recommend the use of multiple assays to verify an autophagic response...
  47. pmc DG-CST (Disease Gene Conserved Sequence Tags), a database of human-mouse conserved elements associated to disease genes
    Angelo Boccia
    CEINGE Biotecnologie Avanzate, Naples, Italy
    Nucleic Acids Res 33:D505-10. 2005
    ..ceinge.unina.it/ and may be searched using both simple and complex queries. A graphic browser allows direct visualization of the CSTs and related annotations within the context of the relative gene and its transcripts...
  48. ncbi request reprint Multiple sulfatase deficiency in a Turkish family resulting from a novel mutation
    Uluc Yis
    Dokuz Eylul University School of Medicine, Department of Pediatrics, Division of Child Neurology, 35340, lzmir, Turkey
    Brain Dev 30:374-7. 2008
    ..They were found to be homozygous for a novel missense mutation c.739G > C causing a p.G247R amino acid substitution in the SUMF1 protein...
  49. ncbi request reprint The ocular albinism type 1 (OA1) gene controls melanosome maturation and size
    Katia Cortese
    Telethon Institute of Genetics and Medicine TIGEM, Naples, Italy
    Invest Ophthalmol Vis Sci 46:4358-64. 2005
    ..e., Tyrosinase and membrane-associated transporter protein [Matp]) to study the function of Oa1, the gene mutated in ocular albinism type 1, in the RPE during development and after birth...

Research Grants5

  1. Ocular Albinism type 1: from molecular bases to gene delivery
    Andrea Ballabio; Fiscal Year: 2007
    ..Finally, the gene delivery approaches developed may represent important tools for future treatment of eye diseases involving RPE. ..