Author

A. Koulman

3 papers indexed here

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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 · ⚡1

Open access Oct 2026

CLN6 is a glycerophosphoglycerol epimerase in bis(monoacylglycero)phosphate biosynthesis

Lysosomal catabolism depends on bis(monoacylglycero)phosphate (BMP), a phospholipid with atypical S,S stereochemistry of unknown biosynthetic origin. CLN8 and CLN5 catalyze sequential acylation steps in BMP synthesis, and their loss of function causes Batten disease, a group of inherited neurodegenerative lysosomal sto...

P. K. Sheokand, A. James, Christian Posern et al. · bioRxiv · 0 citations

Open access Jul 2026

Novel in vivo measurement of muscle total carnitine concentration reveals potential mechanism linking mitochondrial dysfunction and lipid accumulation

A novel non-invasive postprocessing method, using standard 1H magnetic resonance spectroscopy data, for quantifying muscle total and free carnitine concentrations, which includes an orientation- visibility and spectral fitting component, and consideration of interfering metabolites is described.

K. Schön, L. Watson, H. Biggs et al. · medRxiv · 0 citations