OUTCOMES OF BRAIN RESEARCH

Studying the pathology of human tissue samples has advanced the understanding of the disease mechanisms to help advance new, novel treatments for Krabbe and other neurodegenerative disorders.

Listed here are several peer reviewed manuscripts that have been published in medical journals using tissue samples from the brain and tissue bank. There are more research projects in the works and this page will be updated regularly to include those publications.

We are truly grateful to the families, caregivers and patients who have chosen to advance research efforts for Krabbe and all rare degenerative disorders through brain and tissue donations.

Improved Brain Pathology and Progressive Peripheral Neuropathy in a 15 Year Old Survivor of Infantile Krabbe Disease Treated With Umbilical Cord Transplantation

Julia Kofler, Maria Beltran-Quintero, Anne Rugari, Giulio Zuccoli, Sarah Klotz, and Maria L. Escolar

Nadav I Weinstock, Daesung Shin, Narayan Dhimal, Xinying Hong, Eric E. Irons, Nicholas J. Silvestri, Chelsey B. Reed, Duc Nguyen, Oliver Sampson, Yung-Chic Cheng, Joseph T.Y. Lau, Ernesto R. Bongarzone, Julia Kofler, Maria L. Escolar, Michael H. Gelb, Lawrence Wrabetz, M. Laura Feltri

Macrophages Expressing GALC Improve Peripheral Krabbe Disease by a Mechanism Independent of Cross-Correction

B-Galactosylceramidase Deficiency Causes Upregulation of Long Pentraxin-3 in the Central Nervous System of Krabbe Patients and Twitcher Mice

Daniela Coltrini, Adwaid Manu Krishna Chandran, Mirella Belleri, Pietro L. Pollani, Manuela Cominelli, Francesca Pagani, Miriam Capra, Stefano Calza, Simona Prioni, Laura Mauri, Alessandro Prinetti, Julia Kofler, Maria L. Escolar and Marco Presta