16D0 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. Krabbe disease: Are certain mutations disease-causing only when specific polymorphisms are present or when inherited in trans with specific second mutations?
  2. Lysosomal storage diseases: Heterogeneous group of disorders
  3. Sixteen novel mutations in the arylsulfatase A gene causing metachromatic leukodystrophy
  4. Extended normal life after AAVrh10-mediated gene therapy in the mouse model of krabbe disease
  5. Effects of treatments on inflammatory and apoptotic markers in the CNS of mice with globoid cell leukodystrophy
  6. Insulin-like growth factor-1 provides protection against psychosine-induced apoptosis in cultured mouse oligodendrocyte progenitor cells using primarily the PI3K/Akt pathway
  7. Biochemical and pathological evaluation of long-lived mice with globoid cell leukodystrophy after bone marrow transplantation
  8. AAV-Mediated expression of galactocerebrosidase in brain results in attenuated symptoms and extended life span in murine models of globoid cell leukodystrophy
  9. 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
  10. Generation of a mouse with low galactocerebrosidase activity by gene targeting: A new model of globoid cell leukodystrophy (Krabbe disease)
  11. Krabbe disease: Genetic aspects and progress toward therapy
  12. Evidence of diffuse brain pathololgy and unspecific genetic characterization in a patient with an atypical form of adult-onset Krabbe disease
  13. Globoid cell leukodystrophy in cairn and West Highland white terriers
  14. Genetic Galactocerebrosidase Deficiency (Globoid Cell Leukodystrophy, Krabbe Disease) in Rhesus Monkeys (Macaca mulatta)
  15. Analysis of the 5' flanking region of the human galactocerebrosidase (GALC) gene
  16. Molecular genetics of krabbe disease (Globoid cell Leukodystrophy): Diagnostic and clinical implications
  17. Prevalent mutations in the GALC gene of patients with Krabbe disease of Dutch and other European origin
  18. Characterization of the rhesus monkey galactocerebrosidase (GALC) cDNA and gene and identification of the mutation causing globoid cell leukodystrophy (Krabbe disease) in this primate
  19. Retroviral vector-mediated transfer of the galactocerebrosidase (GALC) cDNA leads to overexpression and transfer of GALC activity to neighboring cells
  20. Multiple mutations in the GALC gene in a patient with adult-onset Krabbe disease
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