Alessandra d'Azzo

Department of Genetics, St Jude Children's Research Hospital

Affiliated withSt Jude Children's Research Hospital St. Jude Children's Research Hospital

Research Area

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JoVE Journal Publications

ArticleTotal : 2	Year
Publication title Cited by 19	2013
Publication title Cited by 7	2020

Other Publications

Article	Year
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\| PubMed ID: 9435242	1998
Correction of murine galactosialidosis by bone marrow-derived macrophages overexpressing human protective protein/cathepsin A under control of the colony-stimulating factor-1 receptor promot... Proceedings of the National Academy of Sciences of the United States of America\| PubMed ID: 9843984	1998
Functional amelioration of murine galactosialidosis by genetically modified bone marrow hematopoietic progenitor cells. Blood\| PubMed ID: 11964280	2002
Systemic and neurologic abnormalities distinguish the lysosomal disorders sialidosis and galactosialidosis in mice. Human molecular genetics\| PubMed ID: 12023988	2002
Cathepsin A regulates chaperone-mediated autophagy through cleavage of the lysosomal receptor. The EMBO journal\| PubMed ID: 12505983	2003
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\| PubMed ID: 12548663	2003
Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient. Human genetics\| PubMed ID: 12644936	2003
Characterization of cell- and region-specific abnormalities in the epididymis of cathepsin A deficient mice. Molecular reproduction and development\| PubMed ID: 14579412	2003
Gene transfer strategies for correction of lysosomal storage disorders. Acta haematologica\| PubMed ID: 14583667	2003
Ozz-E3, a muscle-specific ubiquitin ligase, regulates beta-catenin degradation during myogenesis. Developmental cell\| PubMed ID: 14960280	2004
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\| PubMed ID: 15084520	2004
N-butyldeoxygalactonojirimycin reduces neonatal brain ganglioside content in a mouse model of GM1 gangliosidosis. Journal of neurochemistry\| PubMed ID: 15086521	2004
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\| PubMed ID: 15110321	2004
GM1-ganglioside-mediated activation of the unfolded protein response causes neuronal death in a neurodegenerative gangliosidosis. Molecular cell\| PubMed ID: 15350219	2004
Inheritance of lysosomal acid beta-galactosidase activity and gangliosides in crosses of DBA/2J and knockout mice. Biochemical genetics\| PubMed ID: 15487588	2004
Expression specificity of GFAP transgenes. Neurochemical research\| PubMed ID: 15662842	2004
Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis. Human mutation\| PubMed ID: 15714521	2005
G(M1)-ganglioside degradation and biosynthesis in human and murine G(M1)-gangliosidosis. Clinica chimica acta; international journal of clinical chemistry\| PubMed ID: 15748609	2005
Magnetic resonance imaging findings and novel mutations in GM1 gangliosidosis. Journal of child neurology\| PubMed ID: 15791924	2005
E3 ubiquitin ligases as regulators of membrane protein trafficking and degradation. Traffic (Copenhagen, Denmark)\| PubMed ID: 15882441	2005
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\| PubMed ID: 15908988	2005
Chemokine-induced recruitment of genetically modified bone marrow cells into the CNS of GM1-gangliosidosis mice corrects neuronal pathology. Blood\| PubMed ID: 15941905	2005
The Arg482His mutation in the beta-galactosidase gene is responsible for a high frequency of GM1 gangliosidosis carriers in a Cypriot village. Genetic testing\| PubMed ID: 15943552	2005
Short-term, high dose enzyme replacement therapy in sialidosis mice. Molecular genetics and metabolism\| PubMed ID: 15979029	2005
Primary and secondary elastin-binding protein defect leads to impaired elastogenesis in fibroblasts from GM1-gangliosidosis patients. The American journal of pathology\| PubMed ID: 16314480	2005
Correction of Hunter syndrome in the MPSII mouse model by AAV2/8-mediated gene delivery. Human molecular genetics\| PubMed ID: 16505002	2006
GM1 gangliosidosis: molecular analysis of nine patients and development of an RT-PCR assay for GLB1 gene expression profiling. Human mutation\| PubMed ID: 17221873	2007
Neurochemical, morphological, and neurophysiological abnormalities in retinas of Sandhoff and GM1 gangliosidosis mice. Journal of neurochemistry\| PubMed ID: 17442056	2007
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\| PubMed ID: 17522420	2007
Beneficial effects of substrate reduction therapy in a mouse model of GM1 gangliosidosis. Molecular genetics and metabolism\| PubMed ID: 18387328	2008
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\| PubMed ID: 18571950	2009
Neuraminidase 1 is a negative regulator of lysosomal exocytosis. Developmental cell\| PubMed ID: 18606142	2008
Neuraminidase-1 is required for the normal assembly of elastic fibers. American journal of physiology. Lung cellular and molecular physiology\| PubMed ID: 18689602	2008
Mitochondrial alterations in dynamin 2-related centronuclear myopathy. Arquivos de neuro-psiquiatria\| PubMed ID: 19330221	2009
Heterodimerization of the sialidase NEU1 with the chaperone protective protein/cathepsin A prevents its premature oligomerization. The Journal of biological chemistry\| PubMed ID: 19666471	2009
Protective protein/cathepsin A rescues N-glycosylation defects in neuraminidase-1. Biochimica et biophysica acta\| PubMed ID: 19714866	2009
Vacuolization and alterations of lysosomal membrane proteins in cochlear marginal cells contribute to hearing loss in neuraminidase 1-deficient mice. Biochimica et biophysica acta\| PubMed ID: 19857571	2010
GM1-ganglioside accumulation at the mitochondria-associated ER membranes links ER stress to Ca(2+)-dependent mitochondrial apoptosis. Molecular cell\| PubMed ID: 19917257	2009
Ozz-E3 ubiquitin ligase targets sarcomeric embryonic myosin heavy chain during muscle development. PloS one\| PubMed ID: 20352047	2010
Muscle degeneration in neuraminidase 1-deficient mice results from infiltration of the muscle fibers by expanded connective tissue. Biochimica et biophysica acta\| PubMed ID: 20388541	2010
LPS-induced cytokine production in human dendritic cells is regulated by sialidase activity. Journal of leukocyte biology\| PubMed ID: 20826611	2010
Sialidases in vertebrates: a family of enzymes tailored for several cell functions. Advances in carbohydrate chemistry and biochemistry\| PubMed ID: 20837202	2010
AAV-mediated gene delivery in adult GM1-gangliosidosis mice corrects lysosomal storage in CNS and improves survival. PloS one\| PubMed ID: 20976108	2010
Molecular mechanisms of pathogenesis in a glycosphingolipid and a glycoprotein storage disease. Biochemical Society transactions\| PubMed ID: 21118106	2010
GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings. Biochimica et biophysica acta\| PubMed ID: 21497194	2011
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\| PubMed ID: 22008912	2012
Alix protein is substrate of Ozz-E3 ligase and modulates actin remodeling in skeletal muscle. The Journal of biological chemistry\| PubMed ID: 22334701	2012
Emphysema in an adult with galactosialidosis linked to a defect in primary elastic fiber assembly. Molecular genetics and metabolism\| PubMed ID: 22386972	2012
Identification and characterization of PlAlix, the Alix homologue from the Mediterranean sea urchin Paracentrotus lividus. Development, growth & differentiation\| PubMed ID: 23302023	2013
Identification and characterization of the nano-sized vesicles released by muscle cells. FEBS letters\| PubMed ID: 23523921	2013
Chaperone-mediated gene therapy with recombinant AAV-PPCA in a new mouse model of type I sialidosis. Biochimica et biophysica acta\| PubMed ID: 23770387	2013
Galactosialidosis: review and analysis of CTSA gene mutations. Orphanet journal of rare diseases\| PubMed ID: 23915561	2013
Lysosomal NEU1 deficiency affects amyloid precursor protein levels and amyloid-β secretion via deregulated lysosomal exocytosis. Nature communications\| PubMed ID: 24225533	2013
Lysosomal multienzyme complex: pros and cons of working together. Cellular and molecular life sciences : CMLS\| PubMed ID: 24337808	2014
Interorganellar membrane microdomains: dynamic platforms in the control of calcium signaling and apoptosis. Cells\| PubMed ID: 24709798	2013
In silico identification of new putative pathogenic variants in the NEU1 sialidase gene affecting enzyme function and subcellular localization. PloS one\| PubMed ID: 25153125	2014
Broad and direct interaction between TLR and Siglec families of pattern recognition receptors and its regulation by Neu1. eLife\| PubMed ID: 25187624	2014
Sialylation of prion protein controls the rate of prion amplification, the cross-species barrier, the ratio of PrPSc glycoform and prion infectivity. PLoS pathogens\| PubMed ID: 25211026	2014
Myelin abnormalities in the optic and sciatic nerves in mice with GM1-gangliosidosis. ASN neuro\| PubMed ID: 25694553	2015
Bis(monoacylglycero)phosphate: a secondary storage lipid in the gangliosidoses. Journal of lipid research\| PubMed ID: 25795792	2015
Neuraminidase-1 mediates skeletal muscle regeneration. Biochimica et biophysica acta\| PubMed ID: 26001931	2015
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\| PubMed ID: 26569607	2015
Regulated lysosomal exocytosis mediates cancer progression. Science advances\| PubMed ID: 26824057	2015
Pathogenesis, Emerging therapeutic targets and Treatment in Sialidosis. Expert opinion on orphan drugs\| PubMed ID: 26949572	2015
Alix-mediated assembly of the actomyosin-tight junction polarity complex preserves epithelial polarity and epithelial barrier. Nature communications\| PubMed ID: 27336173	2016
Galactosialidosis: historic aspects and overview of investigated and emerging treatment options. Expert opinion on orphan drugs\| PubMed ID: 28603679	2017
Mitochondria-associated ER membranes (MAMs) and lysosomal storage diseases. Cell death & disease\| PubMed ID: 29491402	2018
Palmitoylation is a post-translational modification of Alix regulating the membrane organization of exosome-like small extracellular vesicles. Biochimica et biophysica acta. General subjects\| PubMed ID: 30251702	2018
Lysosomal storage diseases. Nature reviews. Disease primers\| PubMed ID: 30275469	2018
Author Correction: Lysosomal storage diseases. Nature reviews. Disease primers\| PubMed ID: 30337566	2018
Publisher Correction: Lysosomal storage diseases. Nature reviews. Disease primers\| PubMed ID: 31101820	2019
Excessive exosome release is the pathogenic pathway linking a lysosomal deficiency to generalized fibrosis. Science advances\| PubMed ID: 31328155	2019
MYC competes with MiT/TFE in regulating lysosomal biogenesis and autophagy through an epigenetic rheostat. Nature communications\| PubMed ID: 31399583	2019
Type I sialidosis, a normosomatic lysosomal disease, in the differential diagnosis of late-onset ataxia and myoclonus: An overview. Molecular genetics and metabolism\| PubMed ID: 31711734	2020
Characterization of glycan substrates accumulating in GM1 Gangliosidosis. Molecular genetics and metabolism reports\| PubMed ID: 31720227	2019
Skeletal muscle cells derived from mouse skin cultures. Biochemical and biophysical research communications\| PubMed ID: 31926596	2020
Conventional and Unconventional Therapeutic Strategies for Sialidosis Type I. Journal of clinical medicine\| PubMed ID: 32143456	2020
Transcription factor competition regulates lysosomal biogenesis and autophagy. Molecular & cellular oncology\| PubMed ID: 32158913	2020