Fabry disease peripheral blood immune cells release inflammatory cytokines: Role of globotriaosylceramide

Pablo N. De Francesco, Juan M. Mucci, Romina Ceci, +2

Molecular Genetics and Metabolism

InflammationInflammatory CytokinesAutoimmune DiseaseDisease MechanismHematology +8

Higher apoptotic state in Fabry disease peripheral blood mononuclear cells.

Pablo N. De Francesco, Juan M. Mucci, Romina Ceci, +2

Molecular Genetics and Metabolism

Apoptotic StateAutoimmune DiseaseHematologyImmunologyPathology +4

Induction of osteoclastogenesis in an in vitro model of Gaucher disease is mediated by T cells via TNF-α

Juan M. Mucci, Romina Scian, Pablo N. De Francesco, +5

Gene

Gaucher DiseaseVitro ModelImmune RegulationImmunologyOsteoarthritis +7

Proinflammatory and proosteoclastogenic potential of peripheral blood mononuclear cells from Gaucher patients: Implication for bone pathology

Juan M. Mucci, María F. Cuello, Isaac Kisinovsky, +3

Blood Cells Molecules and Diseases

InflammationProosteoclastogenic PotentialBone DiseaseThrombopoiesisAutoimmune Disease +8

Gaucher disease-associated alterations in mesenchymal stem cells reduce osteogenesis and favour adipogenesis processes with concomitant increased osteoclastogenesis

Andrea Crivaro, Constanza Bondar, Juan M. Mucci, +4

Molecular Genetics and Metabolism

MechanobiologyRegenerative MedicineMesenchymal Stem CellsGaucher Disease-associated AlterationsDevelopmental Biology +9

Uncoupling of osteoblast–osteoclast regulation in a chemical murine model of Gaucher disease

Juan M. Mucci, Florencia Suqueli García, Pablo N. De Francesco, +5

Gene

Signal TransductionChemical Murine ModelBiochemistryGaucher DiseaseOsteoblast–osteoclast Regulation +9

Reliability of enzyme assays in dried blood spots for diagnosis of 4 lysosomal storage disorders

Romina Ceci, Pablo N. De Francesco, Juan M. Mucci, +3

Advances in Biological Chemistry

Enzyme AssaysGenetic EpidemiologyDiagnosisPathologySubstrate Reduction Therapy +21

Efficacy of pentosan polysulfate in in vitro models of lysosomal storage disorders: Fabry and Gaucher Disease

Andrea Crivaro, Juan M. Mucci, Constanza Bondar, +4

PLoS ONE

ImmunologyPathologyCytoskeletonSubstrate Reduction TherapyLysosomal Storage Disorders +14

Comparison of Y-chromosome haplogroup frequencies in eight Provinces of Argentina

Virgínia Ramallo, Juan M. Mucci, Angelina García, +9

Forensic science international. Genetics supplement series

Haplotype DeterminationLinkage DisequilibriumCytogeneticsMedicineGenetics +8

Osteocyte Alterations Induce Osteoclastogenesis in an In Vitro Model of Gaucher Disease

Constanza Bondar, Maximiliano Ormazábal, Andrea Crivaro, +4

International Journal of Molecular Sciences