Alessandra d'Azzo

The atomic model of the human protective protein/cathepsin A suggests a structural basis for galactosialidosis.

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.

Functional amelioration of murine galactosialidosis by genetically modified bone marrow hematopoietic progenitor cells.

Systemic and neurologic abnormalities distinguish the lysosomal disorders sialidosis and galactosialidosis in mice.

Cathepsin A regulates chaperone-mediated autophagy through cleavage of the lysosomal receptor.

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.

Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient.

Characterization of cell- and region-specific abnormalities in the epididymis of cathepsin A deficient mice.

Gene transfer strategies for correction of lysosomal storage disorders.

Ozz-E3, a muscle-specific ubiquitin ligase, regulates beta-catenin degradation during myogenesis.

Targeting macrophages with baculovirus-produced lysosomal enzymes: implications for enzyme replacement therapy of the glycoprotein storage disorder galactosialidosis.

N-butyldeoxygalactonojirimycin reduces neonatal brain ganglioside content in a mouse model of GM1 gangliosidosis.

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.

GM1-ganglioside-mediated activation of the unfolded protein response causes neuronal death in a neurodegenerative gangliosidosis.

Inheritance of lysosomal acid beta-galactosidase activity and gangliosides in crosses of DBA/2J and knockout mice.

Expression specificity of GFAP transgenes.

Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis.

G(M1)-ganglioside degradation and biosynthesis in human and murine G(M1)-gangliosidosis.

Magnetic resonance imaging findings and novel mutations in GM1 gangliosidosis.

E3 ubiquitin ligases as regulators of membrane protein trafficking and degradation.

Sialidosis presenting as severe nonimmune fetal hydrops is associated with two novel mutations in lysosomal alpha-neuraminidase.

Chemokine-induced recruitment of genetically modified bone marrow cells into the CNS of GM1-gangliosidosis mice corrects neuronal pathology.

The Arg482His mutation in the beta-galactosidase gene is responsible for a high frequency of GM1 gangliosidosis carriers in a Cypriot village.

Short-term, high dose enzyme replacement therapy in sialidosis mice.

Primary and secondary elastin-binding protein defect leads to impaired elastogenesis in fibroblasts from GM1-gangliosidosis patients.

Correction of Hunter syndrome in the MPSII mouse model by AAV2/8-mediated gene delivery.

GM1 gangliosidosis: molecular analysis of nine patients and development of an RT-PCR assay for GLB1 gene expression profiling.

Neurochemical, morphological, and neurophysiological abnormalities in retinas of Sandhoff and GM1 gangliosidosis mice.

Structural alterations of epididymal epithelial cells in cathepsin A-deficient mice affect the blood-epididymal barrier and lead to altered sperm motility.

Beneficial effects of substrate reduction therapy in a mouse model of GM1 gangliosidosis.

The potential action of galactose as a "chemical chaperone": increase of beta galactosidase activity in fibroblasts from an adult GM1-gangliosidosis patient.

Neuraminidase 1 is a negative regulator of lysosomal exocytosis.

Neuraminidase-1 is required for the normal assembly of elastic fibers.

Mitochondrial alterations in dynamin 2-related centronuclear myopathy.

Heterodimerization of the sialidase NEU1 with the chaperone protective protein/cathepsin A prevents its premature oligomerization.

Protective protein/cathepsin A rescues N-glycosylation defects in neuraminidase-1.

Vacuolization and alterations of lysosomal membrane proteins in cochlear marginal cells contribute to hearing loss in neuraminidase 1-deficient mice.

GM1-ganglioside accumulation at the mitochondria-associated ER membranes links ER stress to Ca(2+)-dependent mitochondrial apoptosis.

Ozz-E3 ubiquitin ligase targets sarcomeric embryonic myosin heavy chain during muscle development.

Muscle degeneration in neuraminidase 1-deficient mice results from infiltration of the muscle fibers by expanded connective tissue.

LPS-induced cytokine production in human dendritic cells is regulated by sialidase activity.

Sialidases in vertebrates: a family of enzymes tailored for several cell functions.

AAV-mediated gene delivery in adult GM1-gangliosidosis mice corrects lysosomal storage in CNS and improves survival.

Molecular mechanisms of pathogenesis in a glycosphingolipid and a glycoprotein storage disease.

GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings.

Preclinical dose-finding study with a liver-tropic, recombinant AAV-2/8 vector in the mouse model of galactosialidosis.

Alix protein is substrate of Ozz-E3 ligase and modulates actin remodeling in skeletal muscle.

Emphysema in an adult with galactosialidosis linked to a defect in primary elastic fiber assembly.

Identification and characterization of PlAlix, the Alix homologue from the Mediterranean sea urchin Paracentrotus lividus.

Identification and characterization of the nano-sized vesicles released by muscle cells.

Chaperone-mediated gene therapy with recombinant AAV-PPCA in a new mouse model of type I sialidosis.

Galactosialidosis: review and analysis of CTSA gene mutations.

Lysosomal NEU1 deficiency affects amyloid precursor protein levels and amyloid-β secretion via deregulated lysosomal exocytosis.

Lysosomal multienzyme complex: pros and cons of working together.

Interorganellar membrane microdomains: dynamic platforms in the control of calcium signaling and apoptosis.

In silico identification of new putative pathogenic variants in the NEU1 sialidase gene affecting enzyme function and subcellular localization.

Broad and direct interaction between TLR and Siglec families of pattern recognition receptors and its regulation by Neu1.

Sialylation of prion protein controls the rate of prion amplification, the cross-species barrier, the ratio of PrPSc glycoform and prion infectivity.

Myelin abnormalities in the optic and sciatic nerves in mice with GM1-gangliosidosis.

Bis(monoacylglycero)phosphate: a secondary storage lipid in the gangliosidoses.

Neuraminidase-1 mediates skeletal muscle regeneration.

Loss of Cellular Sialidases Does Not Affect the Sialylation Status of the Prion Protein but Increases the Amounts of Its Proteolytic Fragment C1.

Regulated lysosomal exocytosis mediates cancer progression.

Pathogenesis, Emerging therapeutic targets and Treatment in Sialidosis.

Alix-mediated assembly of the actomyosin-tight junction polarity complex preserves epithelial polarity and epithelial barrier.

Galactosialidosis: historic aspects and overview of investigated and emerging treatment options.

Mitochondria-associated ER membranes (MAMs) and lysosomal storage diseases.

Palmitoylation is a post-translational modification of Alix regulating the membrane organization of exosome-like small extracellular vesicles.

Lysosomal storage diseases.

Author Correction: Lysosomal storage diseases.

Publisher Correction: Lysosomal storage diseases.

Excessive exosome release is the pathogenic pathway linking a lysosomal deficiency to generalized fibrosis.

MYC competes with MiT/TFE in regulating lysosomal biogenesis and autophagy through an epigenetic rheostat.

Type I sialidosis, a normosomatic lysosomal disease, in the differential diagnosis of late-onset ataxia and myoclonus: An overview.

Characterization of glycan substrates accumulating in GM1 Gangliosidosis.

Skeletal muscle cells derived from mouse skin cultures.

Conventional and Unconventional Therapeutic Strategies for Sialidosis Type I.

Transcription factor competition regulates lysosomal biogenesis and autophagy.