NIH R01 · 2024
Role of CD8 T cell-mediated Pathology in Globoid Cell Leukodystrophy
Abstract Globoid cell leukodystrophy (GLD) or Krabbe's disease is a fatal genetic demyelinating disease of the central nervous system affecting 1 in 100,000 live births with no cure or effective long-term treatment. GLD is caused by loss-of-function mutations in the galactosylceramidase (galc) gene, where loss of GALC enzymatic function results in toxic accumulation of its substrate, a lipid called galactosylsphingosine or `psychosine'. Psychosine cytotoxicity is considered the basis of several key pathologies in GLD. Neuropathology in GLD is marked by profound demyelination and inflammation. However, molecular details of these processes are limited, leaving few therapeutic options. Early…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.