Paola Luzi

Paola Luzi, PhD

Contact Dr. Luzi

1020 Locust Street
Suite 393
Philadelphia, PA 19107

(215) 503-5715

Most Recent Peer-reviewed Publications

  1. Krabbe disease: One Hundred years from the bedside to the bench to the bedside
  2. Expression of individual mutations and haplotypes in the galactocerebrosidase gene identified by the newborn screening program in New York State and in confirmed cases of Krabbe's disease
  3. Long-term improvements in lifespan and pathology in CNS and PNS after BMT plus one intravenous injection of AAVrh10-GALC in twitcher mice
  4. Lysosomal storage disease as an etiology of nonimmune hydrops
  5. 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
  6. Krabbe Disease: Globoid Cell Leukodystrophy
  7. Krabbe disease: Are certain mutations disease-causing only when specific polymorphisms are present or when inherited in trans with specific second mutations?
  8. Lysosomal storage diseases: Heterogeneous group of disorders
  9. Sixteen novel mutations in the arylsulfatase A gene causing metachromatic leukodystrophy
  10. Extended normal life after AAVrh10-mediated gene therapy in the mouse model of krabbe disease
  11. Effects of treatments on inflammatory and apoptotic markers in the CNS of mice with globoid cell leukodystrophy
  12. Insulin-like growth factor-1 provides protection against psychosine-induced apoptosis in cultured mouse oligodendrocyte progenitor cells using primarily the PI3K/Akt pathway
  13. Biochemical and pathological evaluation of long-lived mice with globoid cell leukodystrophy after bone marrow transplantation
  14. AAV-Mediated expression of galactocerebrosidase in brain results in attenuated symptoms and extended life span in murine models of globoid cell leukodystrophy
  15. 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
  16. Generation of a mouse with low galactocerebrosidase activity by gene targeting: A new model of globoid cell leukodystrophy (Krabbe disease)
  17. Krabbe disease: Genetic aspects and progress toward therapy
  18. Evidence of diffuse brain pathololgy and unspecific genetic characterization in a patient with an atypical form of adult-onset Krabbe disease
  19. Globoid cell leukodystrophy in cairn and West Highland white terriers
  20. Genetic Galactocerebrosidase Deficiency (Globoid Cell Leukodystrophy, Krabbe Disease) in Rhesus Monkeys (Macaca mulatta)