Sep 2026
Allogeneic haematopoietic stem cell transplantation in late-onset metachromatic leukodystrophy.
D. Schoenmakers, M. Datema, Shanice Beerepoot et al.
· Brain : a journal of neurolo... · 0 citations
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Open access
Sep 2026
The Batten disease protein CLN8 is a stereospecific acyltransferase in bis(monoacylglycero)phosphate biosynthesis
Loss-of-function mutations in the endoplasmic reticulum membrane protein CLN8 cause Batten disease, a neurodegenerative lysosomal storage disorder. CLN8 acts with the lysosomal enzyme CLN5 to produce bis(monoacylglycero)phosphate (BMP), a signature lysosomal phospholipid with unique S,S stereochemistry. However, the ro...
P. K. Sheokand, Denis Lacabanne, A. James et al.
· Nature Cell Biology · 3 citations
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