NPC1 deficiency in mice is associated with fetal growth restriction, neonatal lethality and abnormal lung pathology
The rare lysosomal storage disorder Niemann-Pick disease type C1 (NPC1) arises from mutation of NPC1, which encodes a lysosomal transmembrane protein essential for normal transport and trafficking of cholesterol and sphingolipids. NPC1 is highly heterogeneous in both clinical phenotypes and age of o...
| Huvudupphovsmän: | , , , , , , , , , , |
|---|---|
| Materialtyp: | Journal article |
| Publicerad: |
MDPI
2019
|