Alessandra d'Azzo Department of Genetics St. Jude Children's Research Hospital Biography Publications Institution JoVE Articles Alessandra d'Azzo has not added a biography. If you are Alessandra d'Azzo and would like to personalize this page please email our Author Liaison for assistance. 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 कंकाल की मांसपेशी फाइब्रोब्लास्ट से एक्सोसोम का अलगाव और लक्षण वर्णन Diantha van de Vlekkert1, Xiaohui Qiu1, Ida Annunziata1, Alessandra d'Azzo1 1Department of Genetics, St. Jude Children's Research Hospital JoVE 61127 Biologia Mitochondria से जुड़े ईआर (MAMs) झिल्ली और Glycosphingolipid समृद्ध (रत्न) Microdomains: माउस मस्तिष्क से अलगाव Ida Annunziata*1, Annette Patterson*1, Alessandra d'Azzo1 1Department of Genetics, St Jude Children's Research Hospital JoVE 50215 Neuroscienze
कंकाल की मांसपेशी फाइब्रोब्लास्ट से एक्सोसोम का अलगाव और लक्षण वर्णन Diantha van de Vlekkert1, Xiaohui Qiu1, Ida Annunziata1, Alessandra d'Azzo1 1Department of Genetics, St. Jude Children's Research Hospital JoVE 61127 Biologia
Mitochondria से जुड़े ईआर (MAMs) झिल्ली और Glycosphingolipid समृद्ध (रत्न) Microdomains: माउस मस्तिष्क से अलगाव Ida Annunziata*1, Annette Patterson*1, Alessandra d'Azzo1 1Department of Genetics, St Jude Children's Research Hospital JoVE 50215 Neuroscienze