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humans (9) 9
index medicus (8) 8
metachromatic leukodystrophy (7) 7
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1. Full Text Lentiviral Hematopoietic Stem Cell Gene Therapy Benefits Metachromatic Leukodystrophy
by Alessandra Biffi and Eugenio Montini and Laura Lorioli and Martina Cesani and Francesca Fumagalli and Tiziana Plati and Cristina Baldoli and Sabata Martino and Andrea Calabria and Sabrina Canale and Fabrizio Benedicenti and Giuliana Vallanti and Luca Biasco and Simone Leo and Nabil Kabbara and Gianluigi Zanetti and William B. Rizzo and Nalini A. L. Mehta and Maria Pia Cicalese and Miriam Casiraghi and Jaap J. Boelens and Ubaldo Del Carro and David J. Dow and Manfred Schmidt and Andrea Assanelli and Victor Neduva and Clelia Di Serio and Elia Stupka and Jason Gardner and Christof von Kalle and Claudio Bordignon and Fabio Ciceri and Attilio Rovelli and Maria Grazia Roncarolo and Alessandro Aiuti and Maria Sessa and Luigi Naldini
Science, ISSN 0036-8075, 8/2013, Volume 341, Issue 6148, pp. 864 - 864
Metachromatic leukodystrophy (MLD) is an inherited lysosomal storage disease caused by arylsulfatase A (ARSA) deficiency. Patients with MLD exhibit progressive... 
RESEARCH ARTICLE SUMMARY | Metachromatic leukodystrophy | Nervous system diseases | Neurodegenerative diseases | Demyelinating diseases | Medical treatment | Gene therapy | Hematopoietic stem cells | Image contrast | SEVERE COMBINED IMMUNODEFICIENCY | SCID-X1 | MICROGLIA | CHRONIC GRANULOMATOUS-DISEASE | INTEGRATION SITES | MULTIDISCIPLINARY SCIENCES | MOUSE MODEL | CENTRAL-NERVOUS-SYSTEM | GROSS MOTOR FUNCTION | TRANSPLANTATION | VECTOR | Transduction, Genetic | Follow-Up Studies | Humans | Hematopoietic Stem Cell Transplantation | Leukodystrophy, Metachromatic - therapy | Treatment Outcome | Hematopoietic Stem Cells - metabolism | Virus Integration | Lentivirus | Magnetic Resonance Imaging | Genetic Engineering | Brain - pathology | Genetic Vectors - toxicity | DNA Damage | Leukodystrophy, Metachromatic - pathology | Cerebroside-Sulfatase - genetics | Genetic Therapy - methods
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2. Full Text Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy
by Cesani, Martina and Lorioli, Laura and Grossi, Serena and Amico, Giulia and Fumagalli, Francesca and Spiga, Ivana and Filocamo, Mirella and Biffi, Alessandra
Human Mutation, ISSN 1059-7794, 01/2016, Volume 37, Issue 1, pp. 16 - 27
Metachromatic leukodystrophy is a neurodegenerative disorder characterized by progressive demyelination. The disease is caused by variants in the ARSA gene,... 
metachromatic leukodystrophy | ARSA | mutation | arylsulfatase A | saposin B | PSAP | Metachromatic leukodystrophy | Arylsulfatase A | Mutation | Saposin B | PSEUDODEFICIENCY ALLELE | ISOLATED PERIPHERAL NEUROPATHY | ACTIVATOR PROTEIN | MISSENSE MUTATIONS | ARYLSULFATASE-A GENE | SAPOSIN-B DEFICIENCY | GENETICS & HEREDITY | SPLICE-SITE MUTATION | LATE-INFANTILE FORM | JAPANESE PATIENTS | MOLECULAR-BASIS | Leukodystrophy, Metachromatic - genetics | Phenotype | Leukodystrophy, Metachromatic - diagnosis | Genetic Association Studies | Humans | Alleles | Databases, Genetic | Saposins - genetics | Genotype | Cerebroside-Sulfatase - genetics | Sphingolipidoses | Enzymes | Nervous system diseases | Genetic aspects | Genes | Proteins | Genetic disorders | Cells
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3. Full Text Metallothioneins are neuroprotective agents in lysosomal storage disorders
by Cavalca, Eleonora and Cesani, Martina and Gifford, Jennifer C and Sena-Esteves, Miguel and Terreni, Maria Rosa and Leoncini, Giuseppe and Peviani, Marco and Biffi, Alessandra
Annals of Neurology, ISSN 0364-5134, 02/2018, Volume 83, Issue 2, pp. 418 - 432
ObjectiveLysosomal storage disorders (LSDs) are a broad class of inherited metabolic diseases caused by the defective activity of lysosomal enzymes. Central... 
OVEREXPRESSION | OXIDATIVE STRESS | MEDIATED NEUROPROTECTION | REGENERATION | MOUSE MODEL | GENE-THERAPY | EXPRESSION | NEUROSCIENCES | GLOBOID-CELL LEUKODYSTROPHY | BRAIN DISEASE | CLINICAL NEUROLOGY | TRANSPLANTATION | Neuroprotection | Oxidative stress | Animal models | Disease | Lysergic acid diethylamide | Central nervous system | Disorders | Lysosomal storage diseases | Lysergide | Neuroprotective agents | Proteins | Purkinje cells | Lysosomal enzymes | Rodents | Degeneration | Phenotypes | Gene transfer | Transgenic mice | Pharmacology | Gene expression | Chemical compounds | Survival | Microglia | Storage | Mice | Metallothioneins | Metabolic disorders | Apoptosis
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4. Full Text Metallothioneins are neuroprotective agents in lysosomal storage disorders
: Metallothioneins as Neuroprotective Agents in LSDs
by Cavalca, Eleonora and Cesani, Martina and Gifford, Jennifer C and Sena-Esteves, Miguel and Terreni, Maria Rosa and Leoncini, Giuseppe and Peviani, Marco and Biffi, Alessandra
Annals of Neurology, ISSN 0364-5134, 02/2018, Volume 83, Issue 2, pp. 418 - 432
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5. Full Text Lentiviral vector common integration sites in preclinical models and a clinical trial reflect a benign integration bias and not oncogenic selection
by Biffi, Alessandra and Bartholomae, Cynthia C and Cesana, Daniela and Cartier, Natalie and Aubourg, Patrik and Ranzani, Marco and Cesani, Martina and Benedicenti, Fabrizio and Plati, Tiziana and Rubagotti, Enrico and Merella, Stefania and Capotondo, Alessia and Sgualdino, Jacopo and Zanetti, Gianluigi and Von Kalle, Christof and Schmidt, Manfred and Naldini, Luigi and Montini, Eugenio
Blood, ISSN 0006-4971, 05/2011, Volume 117, Issue 20, pp. 5332 - 5339
A recent clinical trial for adrenoleukodystrophy (ALD) showed the efficacy and safety of lentiviral vector (LV) gene transfer in hematopoietic stem progenitor... 
CELL GENE-THERAPY | INSERTIONAL MUTAGENESIS SCREENS | HUMAN GENOME | MOUSE MODEL | IN-VIVO | METACHROMATIC LEUKODYSTROPHY | CD4(+) T-CELLS | GAMMARETROVIRAL VECTORS | CDNA INTEGRATION | HEMATOLOGY | RETROVIRAL INTEGRATION | Gene Transfer Techniques | Virus Integration - genetics | Humans | Hematopoietic Stem Cell Transplantation | Clinical Trials as Topic | DNA-Binding Proteins - genetics | Interleukin Receptor Common gamma Subunit - genetics | DNA-Binding Proteins - deficiency | Mice, Knockout | Transplantation Chimera - genetics | Interleukin Receptor Common gamma Subunit - deficiency | Animals | Adrenoleukodystrophy - therapy | Lentivirus - genetics | Mice | Adrenoleukodystrophy - genetics | Genetic Vectors | Genetic Therapy - methods
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6. Full Text Mutation Update ofARSAandPSAPGenes Causing Metachromatic Leukodystrophy
by Cesani, Martina and Lorioli, Laura and Grossi, Serena and Amico, Giulia and Fumagalli, Francesca and Spiga, Ivana and Filocamo, Mirella and Biffi, Alessandra
Human Mutation, ISSN 1059-7794, 01/2016, Volume 37, Issue 1, pp. 16 - 27
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7. Full Text Metallothioneins as dynamic markers for brain disease in lysosomal disorders
by Cesani, Martina and Cavalca, Eleonora and Macco, Romina and Leoncini, Giuseppe and Terreni, Maria Rosa and Lorioli, Laura and Furlan, Roberto and Comi, Giancarlo and Doglioni, Claudio and Zacchetti, Daniele and Sessa, Maria and Scherzer, Clemens R and Biffi, Alessandra
Annals of Neurology, ISSN 0364-5134, 01/2014, Volume 75, Issue 1, pp. 127 - 137
Objective: To facilitate development of novel disease-modifying therapies for lysosomal storage disorder (LSDs) characterized by nervous system involvement... 
TWITCHER MOUSE | METACHROMATIC LEUKODYSTROPHY | STORAGE DISORDERS | CENTRAL-NERVOUS-SYSTEM | GENE-THERAPY | MODEL | SANDHOFF-DISEASE | EXPRESSION | NEUROSCIENCES | CLINICAL NEUROLOGY | PARKINSONS-DISEASE | BLOOD | Disease | Patients | Rodents | Original
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8. Human hematopoietic stem cells in gene therapy: Pre-clinical and clinical issues
by Biffi, A and Cesani, M
CURRENT GENE THERAPY, ISSN 1566-5232, 04/2008, Volume 8, Issue 2, pp. 135 - 146
Hematopoietic stem and progenitor cells (HSC) have been widely used in allogeneic transplant procedures, therefore their intrinsic characteristics, the biology... 
SEVERE COMBINED IMMUNODEFICIENCY | SERUM-FREE CONDITIONS | ex vivo manipulation | transduction | BONE-MARROW-TRANSPLANTATION | CHRONIC GRANULOMATOUS-DISEASE | WISKOTT-ALDRICH-SYNDROME | gene therapy | ZINC-FINGER NUCLEASES | NOD/SCID-REPOPULATING CELLS | EX-VIVO EXPANSION | GENETICS & HEREDITY | hematopoietic stem cells | LONG-TERM ENGRAFTMENT | BLOOD CD34(+) CELLS | Viruses - genetics | Hematopoietic Stem Cells - cytology | Humans | Hematopoietic Stem Cells - metabolism | Transduction, Genetic - methods | Genetic Vectors - genetics | Genetic Therapy - methods | Transduction | Ex vivo manipulation | Gene therapy | Hematopoietic stem cells
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9. Full Text Metallothioneins as dynamic markers for brain disease in lysosomal disorders
by Cesani, Martina and Cavalca, Eleonora and Macco, Romina and Leoncini, Giuseppe and Terreni, Maria Rosa and Lorioli, Laura and Furlan, Roberto and Comi, Giancarlo and Doglioni, Claudio and Zacchetti, Daniele and Sessa, Maria and Scherzer, Clemens R and Biffi, Alessandra
Annals of neurology, 01/2014, Volume 75, Issue 1, p. 127
To facilitate development of novel disease-modifying therapies for lysosomal storage disorder (LSDs) characterized by nervous system involvement such as... 
Biomarkers - metabolism | Leukocytes, Mononuclear - metabolism | Coculture Techniques | Humans | Mice, Inbred C57BL | Lysosomal Storage Diseases - pathology | Molecular Dynamics Simulation | Lysosomal Storage Diseases - diagnosis | Leukodystrophy, Metachromatic - metabolism | Animals | Leukodystrophy, Metachromatic - diagnosis | Lysosomal Storage Diseases - metabolism | Mice | Metallothionein - chemistry | Primary Cell Culture | Disease Models, Animal
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10. Full Text Metallothioneins as dynamic markers for brain disease in lysosomal disorders
: Metallothioneins and LSDs
by Cesani, Martina and Cavalca, Eleonora and Macco, Romina and Leoncini, Giuseppe and Terreni, Maria Rosa and Lorioli, Laura and Furlan, Roberto and Comi, Giancarlo and Doglioni, Claudio and Zacchetti, Daniele and Sessa, Maria and Scherzer, Clemens R and Biffi, Alessandra
Annals of Neurology, ISSN 0364-5134, 01/2014, Volume 75, Issue 1, pp. 127 - 137
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11. Full Text Critical issues for the proper diagnosis of Metachromatic Leukodystrophy
by Lorioli, Laura and Cesani, Martina and Regis, Stefano and Morena, Francesco and Grossi, Serena and Fumagalli, Francesca and Acquati, Serena and Redaelli, Daniela and Pini, Antonella and Sessa, Maria and Martino, Sabata and Filocamo, Mirella and Biffi, Alessandra
Gene, ISSN 0378-1119, 03/2014, Volume 537, Issue 2, pp. 348 - 351
Metachromatic Leukodystrophy is a lysosomal storage disorder caused by Arylsulfatase A deficiency. Diagnosis is usually performed by measurement of enzymatic... 
Arylsulfatase A | Metachromatic Leukodystrophy | Molecular diagnosis | Enzymatic activity | ARYLSULPHATASE-B | SITE | ASSAY | SENSITIVE METHOD | ARYLSULFATASE-A PSEUDODEFICIENCY | GENETICS & HEREDITY | MUTATION NOMENCLATURE | Leukodystrophy, Metachromatic - genetics | Leukodystrophy, Metachromatic - diagnosis | Humans | Alleles | Female | Heterozygote | Infant | Male | Cerebroside-Sulfatase - blood | Cerebroside-Sulfatase - genetics | Sphingolipidoses | Enzymes | Diagnosis | Analysis
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12. Full Text The galactocerebrosidase enzyme contributes to the maintenance of a functional hematopoietic stem cell niche
by Visigalli, Ilaria and Ungari, Silvia and Martino, Sabata and Park, Hyejung and Cesani, Martina and Gentner, Bernhard and Sergi, Lucia Sergi and Orlacchio, Aldo and Naldini, Luigi and Biffi, Alessandra
Blood, ISSN 0006-4971, 09/2010, Volume 116, Issue 11, pp. 1857 - 1866
The balance between survival and death in many cell types is regulated by small changes in the intracellular content of bioactive sphingolipids. Enzymes that... 
PROGENITOR CELLS | APOPTOSIS | KRABBES-DISEASE | BONE-MARROW | MOUSE MODEL | METACHROMATIC LEUKODYSTROPHY | GENE-THERAPY | MICE | HEMATOLOGY | GALC GENE | TRANSPLANTATION | Insulin-Like Growth Factor I - pharmacology | Apoptosis - drug effects | Humans | Galactosylceramidase - deficiency | Bone Marrow - enzymology | Flow Cytometry | Stem Cell Niche - enzymology | Transfection | Galactosylceramidase - genetics | Mice, Mutant Strains | U937 Cells | Bone Marrow - metabolism | In Situ Nick-End Labeling | Cell Survival - drug effects | Mice, Inbred C57BL | Cells, Cultured | Hematopoietic Stem Cell Transplantation | Genotype | Immunophenotyping | Sphingolipids - metabolism | Hematopoietic Stem Cells - metabolism | Animals | Stem Cell Niche - metabolism | Leukodystrophy, Globoid Cell - enzymology | Leukodystrophy, Globoid Cell - genetics | Mice | Hematopoietic Stem Cells - enzymology | Galactosylceramidase - metabolism | Hematopoiesis and Stem Cells
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13. Full Text Metallothionein transcripts are dynamic markers for brain disease in lysosomal disorders
by Cesani, Martina and Cavalca, Eleonora and Macco, Romina and Leoncini, Giuseppe and Terreni, Maria Rosa and Lorioli, Laura and Comi, Giancarlo and Doglioni, Claudio and Zacchetti, Daniele and Sessa, Maria and Scherzer, Clemens R and Biffi, Alessandra
Molecular Genetics and Metabolism, ISSN 1096-7192, 02/2014, Volume 111, Issue 2, pp. S30 - S30
MEDICINE, RESEARCH & EXPERIMENTAL | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY
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14. Full Text Characterization of new arylsulfatase a gene mutations reinforces genotype-phenotype correlation in metachromatic leukodystrophy
by Cesani, Martina and Capotondo, Alessia and Plati, Tiziana and Sergi, Lucia Sergi and Fumagalli, Francesca and Roncarolo, Maria Grazia and Naldini, Luigi and Comi, Giancarlo and Sessa, Maria and Biffi, Alessandra
Human Mutation, ISSN 1059-7794, 10/2009, Volume 30, Issue 10, pp. 936 - 945
Metachromatic Leukodystrophy (MLD) is a rare inherited lysosomal storage disorder caused by the deficiency of Arylsulfatase A (ARSA). The disease manifests... 
ARSA | Metachromatic leukodystrophy | Arylsulfatase A | Genotype-phenotype correlation | metachromatic leukodystrophy | arylsulfatase A | genotype-phenotype correlation | A PSEUDODEFICIENCY | GENETICS & HEREDITY | LYSOSOMAL STORAGE DISEASES | PREVALENCE | EXPRESSION | MISSENSE MUTATIONS | Leukodystrophy, Metachromatic - genetics | Phenotype | Animals | Humans | Polymerase Chain Reaction | Genotype | Leukodystrophy, Metachromatic - enzymology | Mice | HeLa Cells | Mutation | Cerebroside-Sulfatase - genetics | Mice, Knockout
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15. Full Text 408. Safety of Lysosomal Enzymes Over-Expression in HSC for Gene Therapy of Storage Disorders
by Biffi, Alessandra and Visigalli, Ilaria and Cesani, Martina and Capotondo, Alessia and Santoni de Sio, Francesca R and Pallavicini, Isabella and Zingale, Anna and Naldini, Luigi
Molecular Therapy, ISSN 1525-0016, 2006, Volume 13, Issue S1, pp. S157 - S157
  In the past years we worked extensively on the development of HSC gene therapy for two fatal demyelinating lysosomal storage disorders, Metachromatic (MLD)... 
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16. Full Text 103. Development of an effective and safe hematopoietic stem cell gene therapy for globoid cell leukodystrophy: The unexpected issue of GALC toxicity
by Visigalli, Ilaria and Cesani, Martina and Neri, Margherita and Ungari, Silvia and Tononi, Laura and Marchesini, Sergio and Grez, Manuel and Gritti, Angela and Naldini, Luigi and Biffi, Alessandra
Molecular Genetics and Metabolism, ISSN 1096-7192, 2008, Volume 93, Issue 2, pp. 41 - 41
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17. Full Text 9. Hematopoietic stem cell based gene therapy for the treatment of metachromatic leukodystrophy: Towards clinical testing
by Biffi, Alessandra and Capotondo, Alessia and Cesani, Martina and Montini, Eugenio and Plati, Tiziana and Benedicenti, Fabrizio and Tononi, Laura and Marchesini, Sergio and Sessa, Maria and Bordignon, Claudio and Roncarolo, Maria Grazia and Naldini, Luigi
Molecular Genetics and Metabolism, ISSN 1096-7192, 2008, Volume 93, Issue 2, pp. 16 - 16
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18. BIOMARKERS FOR LYSOSOMAL STORAGE DISORDERS
by BIFFI, ALESSANDRA and SCHERZER, CLEMENS R and CESANI, MARTINA
03/2013
A method of diagnosis or prognosis of a lysosomal storage disorder in a subject, wherein said method comprises (i) providing a sample from said subject, (ii)... 
TESTING | METALLURGY | PEPTIDES | INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIRCHEMICAL OR PHYSICAL PROPERTIES | ORGANIC CHEMISTRY | CHEMISTRY | MEASURING | PHYSICS
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