Project Title
Enhanced contacts between lysosome and mitochondria as a key pathogenic pathway in neuronopathic Gaucher Disease
Partner Organisations
Pontificia Universidad Católica de Chile
Internal ID
1230337
Principal Investigator
SILVANA ZANLUNGO MATSUHIRO
Type
basic research
Status
VIGENTE
Start Date
2023
End Date
2027
Investigators
ALEJANDRA ALVAREZ
JUAN FRANCISCO CASTRO
MARÍA JOSÉ YÁÑEZ
Organisations
San Sebastián University
Pontificia Universidad Católica de Chile

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    Item type:Publication,
    Scopus© Citations 3  6
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    Understanding the phenotypic variability in Niemann-Pick disease type C (NPC): a need for precision medicine
    (2023)
    Macarena Las Heras
    ;
    Benjamín Szenfeld
    ;
    Rami A. Ballout
    ;
    Emanuele Buratti
    ;
    Silvana Zanlungo
    <jats:title>Abstract</jats:title><jats:p>Niemann-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 <jats:italic>NPC1</jats:italic> and <jats:italic>NPC2</jats:italic> 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.</jats:p>
    Scopus© Citations 7  2