Person: KLEIN, ANDRES
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Publication Understanding the phenotypic variability in Niemann-Pick disease type C (NPC): a need for precision medicine(2023) Las Heras, Macarena; Szenfeld, Benjamín; Ballout, Rami A.; Buratti, Emanuele; Zanlungo, Silvana; Dardis, Andrea; KLEIN, ANDRESNiemann-Pick type C (NPC) disease is a lysosomal storage disease (LSD) characterized by the buildup of endo-lysosomal cholesterol and glycosphingolipids due to loss of function mutations in the NPC1 and NPC2 genes. NPC patients can present with a broad phenotypic spectrum, with differences at the age of onset, rate of progression, severity, organs involved, effects on the central nervous system, and even response to pharmacological treatments. This article reviews the phenotypic variation of NPC and discusses its possible causes, such as the remaining function of the defective protein, modifier genes, sex, environmental cues, and splicing factors, among others. We propose that these factors should be considered when designing or repurposing treatments for this disease. Despite its seeming complexity, this proposition is not far-fetched, considering the expanding interest in precision medicine and easier access to multi-omics technologies.Publication Glucocerebrosidase mutations disrupt the lysosome and now the mitochondria(2023) KLEIN, ANDRES; Outeiro, Tiago Flemingβ-Glucocerebrosidase (GCase) mutations lead to glucosylceramide build-up in the lysosome, impacting α-synuclein aggregation and autophagy. Recently, Baden and colleagues found GCase in mitochondria, supporting mitochondrial complex I function and energy metabolism. We believe the newly described role of GCase in the mitochondria will inform new Parkinson’s and Gaucher’s disease therapeutics.