Alessandra d'Azzo

Publications

• Transcription Factor Competition Regulates Lysosomal Biogenesis and Autophagy
  Molecular & Cellular Oncology. 2020  |   Pubmed ID: 32158913
• Conventional and Unconventional Therapeutic Strategies for Sialidosis Type I
  Journal of Clinical Medicine. 03, 2020  |   Pubmed ID: 32143456
• Skeletal Muscle Cells Derived from Mouse Skin Cultures
  Biochemical and Biophysical Research Communications. Jan, 2020  |   Pubmed ID: 31926596
• Type I Sialidosis, a Normosomatic Lysosomal Disease, in the Differential Diagnosis of Late-onset Ataxia and Myoclonus: An Overview
  Molecular Genetics and Metabolism. 02, 2020  |   Pubmed ID: 31711734
• Characterization of Glycan Substrates Accumulating in GM1 Gangliosidosis
  Molecular Genetics and Metabolism Reports. Dec, 2019  |   Pubmed ID: 31720227
• MYC Competes with MiT/TFE in Regulating Lysosomal Biogenesis and Autophagy Through an Epigenetic Rheostat
  Nature Communications. 08, 2019  |   Pubmed ID: 31399583
• Excessive Exosome Release is the Pathogenic Pathway Linking a Lysosomal Deficiency to Generalized Fibrosis
  Science Advances. 07, 2019  |   Pubmed ID: 31328155
• Publisher Correction: Lysosomal Storage Diseases
  Nature Reviews. Disease Primers. May, 2019  |   Pubmed ID: 31101820
• Author Correction: Lysosomal Storage Diseases
  Nature Reviews. Disease Primers. Oct, 2018  |   Pubmed ID: 30337566
• Lysosomal Storage Diseases
  Nature Reviews. Disease Primers. 10, 2018  |   Pubmed ID: 30275469
• Palmitoylation is a Post-translational Modification of Alix Regulating the Membrane Organization of Exosome-like Small Extracellular Vesicles
  Biochimica Et Biophysica Acta. General Subjects. 12, 2018  |   Pubmed ID: 30251702
• Mitochondria-associated ER Membranes (MAMs) and Lysosomal Storage Diseases
  Cell Death & Disease. 02, 2018  |   Pubmed ID: 29491402
• Galactosialidosis: Historic Aspects and Overview of Investigated and Emerging Treatment Options
  Expert Opinion on Orphan Drugs. 2017  |   Pubmed ID: 28603679
• Alix-mediated Assembly of the Actomyosin-tight Junction Polarity Complex Preserves Epithelial Polarity and Epithelial Barrier
  Nature Communications. 06, 2016  |   Pubmed ID: 27336173
• Pathogenesis, Emerging Therapeutic Targets and Treatment in Sialidosis
  Expert Opinion on Orphan Drugs. 2015  |   Pubmed ID: 26949572
• Regulated Lysosomal Exocytosis Mediates Cancer Progression
  Science Advances. Dec, 2015  |   Pubmed ID: 26824057
• Loss of Cellular Sialidases Does Not Affect the Sialylation Status of the Prion Protein but Increases the Amounts of Its Proteolytic Fragment C1
  PloS One. 2015  |   Pubmed ID: 26569607
• Neuraminidase-1 Mediates Skeletal Muscle Regeneration
  Biochimica Et Biophysica Acta. Sep, 2015  |   Pubmed ID: 26001931
• Bis(monoacylglycero)phosphate: a Secondary Storage Lipid in the Gangliosidoses
  Journal of Lipid Research. May, 2015  |   Pubmed ID: 25795792
• Myelin Abnormalities in the Optic and Sciatic Nerves in Mice with GM1-gangliosidosis
  ASN Neuro. Jan-Feb, 2015  |   Pubmed ID: 25694553
• Sialylation of Prion Protein Controls the Rate of Prion Amplification, the Cross-species Barrier, the Ratio of PrPSc Glycoform and Prion Infectivity
  PLoS Pathogens. Sep, 2014  |   Pubmed ID: 25211026
• Broad and Direct Interaction Between TLR and Siglec Families of Pattern Recognition Receptors and Its Regulation by Neu1
  ELife. Sep, 2014  |   Pubmed ID: 25187624
• In Silico Identification of New Putative Pathogenic Variants in the NEU1 Sialidase Gene Affecting Enzyme Function and Subcellular Localization
  PloS One. 2014  |   Pubmed ID: 25153125
• Lysosomal Multienzyme Complex: Pros and Cons of Working Together
  Cellular and Molecular Life Sciences : CMLS. Jun, 2014  |   Pubmed ID: 24337808
• Interorganellar Membrane Microdomains: Dynamic Platforms in the Control of Calcium Signaling and Apoptosis
  Cells. Aug, 2013  |   Pubmed ID: 24709798
• Lysosomal NEU1 Deficiency Affects Amyloid Precursor Protein Levels and Amyloid-β Secretion Via Deregulated Lysosomal Exocytosis
  Nature Communications. 2013  |   Pubmed ID: 24225533
• Galactosialidosis: Review and Analysis of CTSA Gene Mutations
  Orphanet Journal of Rare Diseases. Aug, 2013  |   Pubmed ID: 23915561
• Chaperone-mediated Gene Therapy with Recombinant AAV-PPCA in a New Mouse Model of Type I Sialidosis
  Biochimica Et Biophysica Acta. Oct, 2013  |   Pubmed ID: 23770387
• Identification and Characterization of the Nano-sized Vesicles Released by Muscle Cells
  FEBS Letters. May, 2013  |   Pubmed ID: 23523921
• Identification and Characterization of PlAlix, the Alix Homologue from the Mediterranean Sea Urchin Paracentrotus Lividus
  Development, Growth & Differentiation. Feb, 2013  |   Pubmed ID: 23302023
• Emphysema in an Adult with Galactosialidosis Linked to a Defect in Primary Elastic Fiber Assembly
  Molecular Genetics and Metabolism. May, 2012  |   Pubmed ID: 22386972
• Alix Protein is Substrate of Ozz-E3 Ligase and Modulates Actin Remodeling in Skeletal Muscle
  The Journal of Biological Chemistry. Apr, 2012  |   Pubmed ID: 22334701
• Preclinical Dose-finding Study with a Liver-tropic, Recombinant AAV-2/8 Vector in the Mouse Model of Galactosialidosis
  Molecular Therapy : the Journal of the American Society of Gene Therapy. Feb, 2012  |   Pubmed ID: 22008912
• GM1 Gangliosidosis and Morquio B Disease: an Update on Genetic Alterations and Clinical Findings
  Biochimica Et Biophysica Acta. Jul, 2011  |   Pubmed ID: 21497194
• Molecular Mechanisms of Pathogenesis in a Glycosphingolipid and a Glycoprotein Storage Disease
  Biochemical Society Transactions. Dec, 2010  |   Pubmed ID: 21118106
• AAV-mediated Gene Delivery in Adult GM1-gangliosidosis Mice Corrects Lysosomal Storage in CNS and Improves Survival
  PloS One. 2010  |   Pubmed ID: 20976108
• Sialidases in Vertebrates: a Family of Enzymes Tailored for Several Cell Functions
  Advances in Carbohydrate Chemistry and Biochemistry. 2010  |   Pubmed ID: 20837202
• LPS-induced Cytokine Production in Human Dendritic Cells is Regulated by Sialidase Activity
  Journal of Leukocyte Biology. Dec, 2010  |   Pubmed ID: 20826611
• Muscle Degeneration in Neuraminidase 1-deficient Mice Results from Infiltration of the Muscle Fibers by Expanded Connective Tissue
  Biochimica Et Biophysica Acta. Jul-Aug, 2010  |   Pubmed ID: 20388541
• Ozz-E3 Ubiquitin Ligase Targets Sarcomeric Embryonic Myosin Heavy Chain During Muscle Development
  PloS One. 2010  |   Pubmed ID: 20352047
• Vacuolization and Alterations of Lysosomal Membrane Proteins in Cochlear Marginal Cells Contribute to Hearing Loss in Neuraminidase 1-deficient Mice
  Biochimica Et Biophysica Acta. Feb, 2010  |   Pubmed ID: 19857571
• GM1-ganglioside Accumulation at the Mitochondria-associated ER Membranes Links ER Stress to Ca(2+)-dependent Mitochondrial Apoptosis
  Molecular Cell. Nov, 2009  |   Pubmed ID: 19917257
• Protective Protein/cathepsin A Rescues N-glycosylation Defects in Neuraminidase-1
  Biochimica Et Biophysica Acta. Apr, 2009  |   Pubmed ID: 19714866
• Heterodimerization of the Sialidase NEU1 with the Chaperone Protective Protein/cathepsin A Prevents Its Premature Oligomerization
  The Journal of Biological Chemistry. Oct, 2009  |   Pubmed ID: 19666471
• Mitochondrial Alterations in Dynamin 2-related Centronuclear Myopathy
  Arquivos De Neuro-psiquiatria. Mar, 2009  |   Pubmed ID: 19330221
• The Potential Action of Galactose As a "chemical Chaperone": Increase of Beta Galactosidase Activity in Fibroblasts from an Adult GM1-gangliosidosis Patient
  European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society. Mar, 2009  |   Pubmed ID: 18571950
• Neuraminidase-1 is Required for the Normal Assembly of Elastic Fibers
  American Journal of Physiology. Lung Cellular and Molecular Physiology. Oct, 2008  |   Pubmed ID: 18689602
• Neuraminidase 1 is a Negative Regulator of Lysosomal Exocytosis
  Developmental Cell. Jul, 2008  |   Pubmed ID: 18606142
• Beneficial Effects of Substrate Reduction Therapy in a Mouse Model of GM1 Gangliosidosis
  Molecular Genetics and Metabolism. Jun, 2008  |   Pubmed ID: 18387328
• Structural Alterations of Epididymal Epithelial Cells in Cathepsin A-deficient Mice Affect the Blood-epididymal Barrier and Lead to Altered Sperm Motility
  Journal of Andrology. Sep-Oct, 2007  |   Pubmed ID: 17522420
• Neurochemical, Morphological, and Neurophysiological Abnormalities in Retinas of Sandhoff and GM1 Gangliosidosis Mice
  Journal of Neurochemistry. Jun, 2007  |   Pubmed ID: 17442056
• GM1 Gangliosidosis: Molecular Analysis of Nine Patients and Development of an RT-PCR Assay for GLB1 Gene Expression Profiling
  Human Mutation. Feb, 2007  |   Pubmed ID: 17221873
• Correction of Hunter Syndrome in the MPSII Mouse Model by AAV2/8-mediated Gene Delivery
  Human Molecular Genetics. Apr, 2006  |   Pubmed ID: 16505002
• Primary and Secondary Elastin-binding Protein Defect Leads to Impaired Elastogenesis in Fibroblasts from GM1-gangliosidosis Patients
  The American Journal of Pathology. Dec, 2005  |   Pubmed ID: 16314480
• Short-term, High Dose Enzyme Replacement Therapy in Sialidosis Mice
  Molecular Genetics and Metabolism. Jul, 2005  |   Pubmed ID: 15979029
• The Arg482His Mutation in the Beta-galactosidase Gene is Responsible for a High Frequency of GM1 Gangliosidosis Carriers in a Cypriot Village
  Genetic Testing. 2005  |   Pubmed ID: 15943552
• Chemokine-induced Recruitment of Genetically Modified Bone Marrow Cells into the CNS of GM1-gangliosidosis Mice Corrects Neuronal Pathology
  Blood. Oct, 2005  |   Pubmed ID: 15941905
• Sialidosis Presenting As Severe Nonimmune Fetal Hydrops is Associated with Two Novel Mutations in Lysosomal Alpha-neuraminidase
  Journal of Perinatology : Official Journal of the California Perinatal Association. Jul, 2005  |   Pubmed ID: 15908988
• E3 Ubiquitin Ligases As Regulators of Membrane Protein Trafficking and Degradation
  Traffic (Copenhagen, Denmark). Jun, 2005  |   Pubmed ID: 15882441
• Magnetic Resonance Imaging Findings and Novel Mutations in GM1 Gangliosidosis
  Journal of Child Neurology. Jan, 2005  |   Pubmed ID: 15791924
• G(M1)-ganglioside Degradation and Biosynthesis in Human and Murine G(M1)-gangliosidosis
  Clinica Chimica Acta; International Journal of Clinical Chemistry. Apr, 2005  |   Pubmed ID: 15748609
• Role of Beta-galactosidase and Elastin Binding Protein in Lysosomal and Nonlysosomal Complexes of Patients with GM1-gangliosidosis
  Human Mutation. Mar, 2005  |   Pubmed ID: 15714521
• Expression Specificity of GFAP Transgenes
  Neurochemical Research. Nov, 2004  |   Pubmed ID: 15662842
• Inheritance of Lysosomal Acid Beta-galactosidase Activity and Gangliosides in Crosses of DBA/2J and Knockout Mice
  Biochemical Genetics. Aug, 2004  |   Pubmed ID: 15487588
• GM1-ganglioside-mediated Activation of the Unfolded Protein Response Causes Neuronal Death in a Neurodegenerative Gangliosidosis
  Molecular Cell. Sep, 2004  |   Pubmed ID: 15350219
• New Mutations in the PPBG Gene Lead to Loss of PPCA Protein Which Affects the Level of the Beta-galactosidase/neuraminidase Complex and the EBP-receptor
  Molecular Genetics and Metabolism. May, 2004  |   Pubmed ID: 15110321
• N-butyldeoxygalactonojirimycin Reduces Neonatal Brain Ganglioside Content in a Mouse Model of GM1 Gangliosidosis
  Journal of Neurochemistry. May, 2004  |   Pubmed ID: 15086521
• Targeting Macrophages with Baculovirus-produced Lysosomal Enzymes: Implications for Enzyme Replacement Therapy of the Glycoprotein Storage Disorder Galactosialidosis
  FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology. Jun, 2004  |   Pubmed ID: 15084520
• Ozz-E3, a Muscle-specific Ubiquitin Ligase, Regulates Beta-catenin Degradation During Myogenesis
  Developmental Cell. Feb, 2004  |   Pubmed ID: 14960280
• Gene Transfer Strategies for Correction of Lysosomal Storage Disorders
  Acta Haematologica. 2003  |   Pubmed ID: 14583667
• Characterization of Cell- and Region-specific Abnormalities in the Epididymis of Cathepsin A Deficient Mice
  Molecular Reproduction and Development. Dec, 2003  |   Pubmed ID: 14579412
• Modulating Action of the New Polymorphism L436F Detected in the GLB1 Gene of a Type-II GM1 Gangliosidosis Patient
  Human Genetics. Jul, 2003  |   Pubmed ID: 12644936
• Increase in Macrophages in the Testis of Cathepsin a Deficient Mice Suggests an Important Role for These Cells in the Interstitial Space of This Tissue
  Molecular Reproduction and Development. Mar, 2003  |   Pubmed ID: 12548663
• Cathepsin A Regulates Chaperone-mediated Autophagy Through Cleavage of the Lysosomal Receptor
  The EMBO Journal. Jan, 2003  |   Pubmed ID: 12505983
• Systemic and Neurologic Abnormalities Distinguish the Lysosomal Disorders Sialidosis and Galactosialidosis in Mice
  Human Molecular Genetics. Jun, 2002  |   Pubmed ID: 12023988
• Functional Amelioration of Murine Galactosialidosis by Genetically Modified Bone Marrow Hematopoietic Progenitor Cells
  Blood. May, 2002  |   Pubmed ID: 11964280
• Correction of Murine Galactosialidosis by Bone Marrow-derived Macrophages Overexpressing Human Protective Protein/cathepsin A Under Control of the Colony-stimulating Factor-1 Receptor Promoter
  Proceedings of the National Academy of Sciences of the United States of America. Dec, 1998  |   Pubmed ID: 9843984
• The Atomic Model of the Human Protective Protein/cathepsin A Suggests a Structural Basis for Galactosialidosis
  Proceedings of the National Academy of Sciences of the United States of America. Jan, 1998  |   Pubmed ID: 9435242