0B68 Luzi, Paola - Thomas Jefferson University - Thomas Jefferson University
Paola Luzi

Paola Luzi,

Contact Dr. Luzi

1020 Locust Street
Suite 393
Philadelphia, PA 19107

(215) 503-5715

Most Recent Peer-reviewed Publications

  1. Intravenous injection of AAVrh10-GALC after the neonatal period in twitcher mice results in significant expression in the central and peripheral nervous systems and improvement of clinical features
  2. Krabbe disease: Are certain mutations disease-causing only when specific polymorphisms are present or when inherited in trans with specific second mutations?
  3. Lysosomal storage diseases: Heterogeneous group of disorders
  4. Sixteen novel mutations in the arylsulfatase A gene causing metachromatic leukodystrophy
  5. Extended normal life after AAVrh10-mediated gene therapy in the mouse model of krabbe disease
  6. Effects of treatments on inflammatory and apoptotic markers in the CNS of mice with globoid cell leukodystrophy
  7. Insulin-like growth factor-1 provides protection against psychosine-induced apoptosis in cultured mouse oligodendrocyte progenitor cells using primarily the PI3K/Akt pathway
  8. Biochemical and pathological evaluation of long-lived mice with globoid cell leukodystrophy after bone marrow transplantation
  9. AAV-Mediated expression of galactocerebrosidase in brain results in attenuated symptoms and extended life span in murine models of globoid cell leukodystrophy
  10. Generation of transgenic mice expressing insulin-like growth factor-1 under the control of the myelin basic protein promoter: Increased myelination and potential for studies on the effects of increased IGF-1 on experimentally and genetically induced demyelination
  11. Generation of a mouse with low galactocerebrosidase activity by gene targeting: A new model of globoid cell leukodystrophy (Krabbe disease)
  12. Krabbe disease: Genetic aspects and progress toward therapy
  13. Evidence of diffuse brain pathololgy and unspecific genetic characterization in a patient with an atypical form of adult-onset Krabbe disease
  14. Globoid cell leukodystrophy in cairn and West Highland white terriers
  15. Genetic Galactocerebrosidase Deficiency (Globoid Cell Leukodystrophy, Krabbe Disease) in Rhesus Monkeys (Macaca mulatta)
  16. Analysis of the 5' flanking region of the human galactocerebrosidase (GALC) gene
  17. Molecular genetics of krabbe disease (Globoid cell Leukodystrophy): Diagnostic and clinical implications
  18. Prevalent mutations in the GALC gene of patients with Krabbe disease of Dutch and other European origin
  19. Characterization of the rhesus monkey galactocerebrosidase (GALC) cDNA and gene and identification of the mutation causing globoid cell leukodystrophy (Krabbe disease) in this primate
  20. Retroviral vector-mediated transfer of the galactocerebrosidase (GALC) cDNA leads to overexpression and transfer of GALC activity to neighboring cells