F. M. Platt

Release of acidic store calcium is required for effective priming of the NLRP3 inflammasome

This study shows that lysosomal Ca2+ release is essential for NLRP3 inflammasome priming and IL-1β production in mice with Niemann-Pick Type C or Tpcn1/Tpcn2 deficiency.

Lipid mediated inhibition of Niemann-Pick C1 protein is an evolutionary conserved feature of multiple Mycobacterium lineages and non-tubercular mycobacteria.

This study investigates whether lipid extracts from various mycobacterial strains inhibit the NPC1 pathway, finding that inhibition occurs in most strains but not in Mycobacterium canettii.

Oral Glucosamine Ameliorates Aggravated Neurological Phenotype in Mucopolysaccharidosis III Type C Mouse Model Expressing Misfolded HGSNAT Variant

This study shows oral glucosamine improves neurological symptoms in a mouse model with misfolded HGSNAT due to a Pro304Leu mutation.

Acetylation of L-leucine switches its carrier from the L-amino acid transporter (LAT) to organic anion transporters (OAT)

This paper shows that N-acetyl-L-leucine is transported by organic anion transporters (OAT) instead of LAT, explaining its drug-like properties compared to L-leucine.

Elucidating the mechanism of cyclodextrins in the treatment of Niemann-Pick Disease Type C using crosslinked 2-hydroxypropyl-β-cyclodextrin

This study investigates the mechanism of crosslinked 2-hydroxypropyl-β-cyclodextrin (HPβCD) in treating Niemann-Pick Disease Type C and evaluates its in vivo efficacy with MRIg-FUS to enhance brain penetration.

Redistribution of cholesterol from vesicle to plasmalemma controls fusion pore geometry

The paper shows that cholesterol redistribution from vesicles to the plasmalemma constricts the fusion pore, while depletion widens it, proposing a cholesterol-dependent mechanism for pore geometry regulation.

Unexpected differences in the pharmacokinetics of N-acetyl DL-leucine enantiomers after oral dosing and their clinical relevance

This study investigates the pharmacokinetic differences between enantiomers of N-acetyl-leucine after oral dosing in mice, finding that the D-enantiomer accumulates and has different tissue distribution compared to the L-enantiomer.

Drug-induced increase in lysobisphosphatidic acid reduces the cholesterol overload in Niemann-Pick type C cells and mice

The paper identifies thioperamide as a drug that increases lysobisphosphatidic acid (LBPA) levels, reducing cholesterol overload in Niemann-Pick type C cells and mice.