Milan Elleder

TL;DR: Transfection of NP-C fibroblasts with wild-type NPC1 cDNA resulted in correction of their excessive lysosomal storage of LDL cholesterol, thereby defining the critical role of NPC1 in regulation of intracellular cholesterol trafficking.

TL;DR: Echocardiographically detectable cardiac involvement is frequent with Fabry's disease, particularly in older subjects, and more pronounced in affected hemizygous men than in heterozygous women andValvular and especially LV structural changes may serve as a useful marker of disease severity.

TL;DR: This work identified in five individuals one of two disease-causing mutations, c.346_348delCTC and c.344T>G, in DNAJC5 encoding cysteine-string protein alpha (CSPα), which confirms a neuroprotective role for CSPα in humans and demonstrates the need for detailed investigation of CSP α in the neuronal ceroid lipofuscinoses and other neurodegenerative diseases presenting with neuronal protein aggregation.

TL;DR: Using proton magnetic resonance analysis on formaldehyde-fixed tissue the stored CTH was identified as globotriaosylceramide and was enzymatically degradable by control cell cultures but left uncleaved by mutant reference Fabry cells.

TL;DR: The overall prevalence of LSDs in the Czech population is comparable to that reported for countries with well-established and advanced diagnostics, and a range of other LSDs have not been detected at all over the past three decades.