Brainstem development requires galactosylceramidase and is critical for pathogenesis in a model of Krabbe disease
oleh: Nadav I. Weinstock, Conlan Kreher, Jacob Favret, Duc Nguyen, Ernesto R. Bongarzone, Lawrence Wrabetz, M. Laura Feltri, Daesung Shin
| Format: | Article |
|---|---|
| Diterbitkan: | Nature Portfolio 2020-10-01 |
Deskripsi
Krabbe disease is caused by GALC deficiency, leading to accumulation of cytotoxic psychosine, demyelination, and neurodegeneration. Here, the authors develop a Galc flox mouse line to model Krabbe disease and unveil that early postnatal GALC neuronal expression is critical for disease pathogenesis.