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 识别和 PlAlix,从地中海海胆 Paracentrotus Lividus Alix 同系物的表征。 Development, Growth & Differentiation. Feb, 2013 | Pubmed ID: 23302023 肺气肿成人与 Galactosialidosis 链接到主弹性纤维组件中的缺陷。 Molecular Genetics and Metabolism. May, 2012 | Pubmed ID: 22386972 Alix 蛋白是 Ozz E3 连接酶的底物和调节肌动蛋白重塑的骨骼肌。 The Journal of Biological Chemistry. Apr, 2012 | Pubmed ID: 22334701 在 Galactosialidosis 模型小鼠肝脏热带、 重组腺相关病毒-2/8 矢量与临床剂量研究。 Molecular Therapy : the Journal of the American Society of Gene Therapy. Feb, 2012 | Pubmed ID: 22008912 GM1 Gangliosidosis 和 Morquio B 疾病: 更新遗传学和临床研究结果。 Biochimica Et Biophysica Acta. Jul, 2011 | Pubmed ID: 21497194 在 Glycosphingolipid 和糖蛋白存储疾病发病的分子机制。 Biochemical Society Transactions. Dec, 2010 | Pubmed ID: 21118106 腺相关病毒介导的基因传递成人 GM1 Gangliosidosis 小鼠纠正了溶酶体贮积在中枢神经系统中的,提高了生存。 PloS One. 2010 | Pubmed ID: 20976108 在脊椎动物中的 Sialidases: 一个家庭的酶量身定做的几个单元格的功能。 Advances in Carbohydrate Chemistry and Biochemistry. 2010 | Pubmed ID: 20837202 人树突状细胞中的脂多糖诱导因子生产受唾液酸酶活性。 Journal of Leukocyte Biology. Dec, 2010 | Pubmed ID: 20826611 神经氨酸酶 1 基因缺陷小鼠肌肉退化所扩大的结缔组织导致的肌肉纤维渗透。 Biochimica Et Biophysica Acta. Jul-Aug, 2010 | Pubmed ID: 20388541 Ozz E3 泛素连接酶目标肌肉发育的胚胎的心肌肌球蛋白重链。 PloS One. 2010 | Pubmed ID: 20352047 无机盐和改建的人工耳蜗的边缘细胞溶酶体的膜蛋白有助于神经氨酸酶 1 缺陷小鼠的听力损失。 Biochimica Et Biophysica Acta. Feb, 2010 | Pubmed ID: 19857571 Ca(2+) 依赖线粒体细胞凋亡线粒体相关 ER 膜联系 ER 应力在 GM1 神经节积累。 Molecular Cell. Nov, 2009 | Pubmed ID: 19917257 保护性蛋白蛋白酶 A 拯救神经氨酸酶-1 的 N-糖基化缺陷。 Biochimica Et Biophysica Acta. Apr, 2009 | Pubmed ID: 19714866 NEU1 唾液酸酶与伴侣保护蛋白/蛋白酶 A Heterodimerization 可防止其过早齐聚。 The Journal of Biological Chemistry. Oct, 2009 | Pubmed ID: 19666471 Dynamin 2 相关中央核肌病中的线粒体改建。 Arquivos De Neuro-psiquiatria. Mar, 2009 | Pubmed ID: 19330221 半乳糖作为"化学伴侣"的潜在作用: 从成人 GM1 Gangliosidosis 患者的成纤维细胞 β 半乳糖苷酶活性的增加。 European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society. Mar, 2009 | Pubmed ID: 18571950 神经氨酸酶-1 是正常的程序集的弹性纤维的必要条件。 American Journal of Physiology. Lung Cellular and Molecular Physiology. Oct, 2008 | Pubmed ID: 18689602 神经氨酸酶 1 是溶酶体胞负调节器。 Developmental Cell. Jul, 2008 | Pubmed ID: 18606142 衬底减少治疗的小鼠模型的 GM1 Gangliosidosis 的有利影响。 Molecular Genetics and Metabolism. Jun, 2008 | Pubmed ID: 18387328 组织蛋白酶 A 缺陷小鼠附睾上皮细胞的结构改动影响血液附睾的屏障,并导致改变的精子活力。 Journal of Andrology. Sep-Oct, 2007 | Pubmed ID: 17522420 Sandhoff 和 GM1 Gangliosidosis 小鼠视网膜的神经化学、 形态,与神经电生理异常。 Journal of Neurochemistry. Jun, 2007 | Pubmed ID: 17442056 GM1 Gangliosidosis: 九个病人及 RT-pcr 为 GLB1 基因表达谱的分子分析。 Human Mutation. Feb, 2007 | Pubmed ID: 17221873 MPSII 小鼠模型 AAV2 8 介导基因转染的亨特综合征的修正。 Human Molecular Genetics. Apr, 2006 | Pubmed ID: 16505002 GM1 Gangliosidosis 病人从小学和中学的弹性蛋白结合蛋白缺陷导致受损 Elastogenesis 成纤维细胞中。 The American Journal of Pathology. Dec, 2005 | Pubmed ID: 16314480 Sialidosis 小鼠的短期、 高剂量酶替代疗法。 Molecular Genetics and Metabolism. Jul, 2005 | Pubmed ID: 15979029 Β-半乳糖苷酶基因 Arg482His 突变负责 GM1 Gangliosidosis 载体在塞浦路斯村高频率。 Genetic Testing. 2005 | Pubmed ID: 15943552 转基因的骨髓细胞趋化因子诱导招募加入 GM1 Gangliosidosis 小鼠中枢神经系统纠正神经元的病理。 Blood. Oct, 2005 | Pubmed ID: 15941905 Sialidosis 提出作为严重 Nonimmune 胎儿水肿是相关联的两种新型突变溶酶体 α-神经氨酸酶。 Journal of Perinatology : Official Journal of the California Perinatal Association. Jul, 2005 | Pubmed ID: 15908988 E3 泛素连接酶作为监管机构的膜蛋白贩运和退化。 Traffic (Copenhagen, Denmark). Jun, 2005 | Pubmed ID: 15882441 磁共振成像结果和 GM1 Gangliosidosis 新突变。 Journal of Child Neurology. Jan, 2005 | Pubmed ID: 15791924 G (M1)-神经节苷脂退化和生物合成中人类和小鼠 G (M1)-gangliosidosis。 Clinica Chimica Acta; International Journal of Clinical Chemistry. Apr, 2005 | Pubmed ID: 15748609 Β-半乳糖苷酶和弹性蛋白结合蛋白在溶酶体和 Nonlysosomal 配合物 GM1 Gangliosidosis 患者的作用。 Human Mutation. Mar, 2005 | Pubmed ID: 15714521 胶质纤维酸性蛋白转基因表达特异性。 Neurochemical Research. Nov, 2004 | Pubmed ID: 15662842 继承的溶酶体酸性 β-半乳糖苷酶活性和神经节苷脂在小鼠 DBA/2J 和被击昏的十字架。 Biochemical Genetics. Aug, 2004 | Pubmed ID: 15487588 GM1 神经节苷脂介导活化的未折叠的蛋白应答在神经退行性 Gangliosidosis 神经元死亡。 Molecular Cell. Sep, 2004 | Pubmed ID: 15350219 PPBG 基因新突变导致损失的 PPCA 蛋白的影响 β-半乳糖苷酶/神经氨酸酶复合物和 EBP-受体的水平。 Molecular Genetics and Metabolism. May, 2004 | Pubmed ID: 15110321 N Butyldeoxygalactonojirimycin 减少了新生儿大脑神经节苷脂 GM1 Gangliosidosis 小鼠模型的内容。 Journal of Neurochemistry. May, 2004 | Pubmed ID: 15086521 针对巨噬细胞与杆状病毒产生溶酶体的酶: 酶替代疗法的糖蛋白存储影响障碍 Galactosialidosis。 FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology. Jun, 2004 | Pubmed ID: 15084520 Ozz-E3,特定肌肉的泛素连接酶调节连环退化成肌期间。 Developmental Cell. Feb, 2004 | Pubmed ID: 14960280 校正的溶酶体贮积病基因转移策略。 Acta Haematologica. 2003 | Pubmed ID: 14583667 单元格和区域特定异常的附睾中蛋白酶 A 缺陷小鼠的表征。 Molecular Reproduction and Development. Dec, 2003 | Pubmed ID: 14579412 调节行动的 L436F II 型 GM1 Gangliosidosis 病人的 GLB1 基因中检测到的新的多态性。 Human Genetics. Jul, 2003 | Pubmed ID: 12644936 增加巨噬细胞中睾丸组织蛋白酶缺陷小鼠表明这些细胞间质空间的这种组织中发挥重要作用。 Molecular Reproduction and Development. Mar, 2003 | Pubmed ID: 12548663 组织蛋白酶 A 规定了伴侣介导自噬溶酶体受体卵通过。 The EMBO Journal. Jan, 2003 | Pubmed ID: 12505983 系统性和神经功能异常区分的溶酶体疾病 Sialidosis 和 Galactosialidosis 在小鼠。 Human Molecular Genetics. Jun, 2002 | Pubmed ID: 12023988 功能改善的相关的小鼠 Galactosialidosis 基因修饰骨髓造血祖细胞。 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 骨骼肌成纤维细胞外泌体的分离和表征 Diantha van de Vlekkert1, Xiaohui Qiu1, Ida Annunziata1, Alessandra d'Azzo1 1Department of Genetics, St. Jude Children's Research Hospital JoVE 61127 Biology 线粒体相关的ER膜(MAMS)和鞘糖脂丰富的微区(GEMS):分离小鼠脑 Ida Annunziata*1, Annette Patterson*1, Alessandra d'Azzo1 1Department of Genetics, St Jude Children's Research Hospital JoVE 50215 Neuroscience
骨骼肌成纤维细胞外泌体的分离和表征 Diantha van de Vlekkert1, Xiaohui Qiu1, Ida Annunziata1, Alessandra d'Azzo1 1Department of Genetics, St. Jude Children's Research Hospital JoVE 61127 Biology
线粒体相关的ER膜(MAMS)和鞘糖脂丰富的微区(GEMS):分离小鼠脑 Ida Annunziata*1, Annette Patterson*1, Alessandra d'Azzo1 1Department of Genetics, St Jude Children's Research Hospital JoVE 50215 Neuroscience