Understanding the phenotypic variability in Niemann-Pick disease type C (NPC): a need for precision medicine

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dc.article.number21
dc.catalogadorvzp
dc.contributor.authorDe Las Heras Barros, Macarena Cruz
dc.contributor.authorSzenfeld, Benjamín
dc.contributor.authorBallout, Rami
dc.contributor.authorBuratti, Emanuele
dc.contributor.authorZanlungo Matsuhiro, Silvana
dc.contributor.authorDardis, Andrea
dc.contributor.authorKlein Posternack, Andrés David
dc.date.accessioned2024-06-03T20:33:02Z
dc.date.available2024-06-03T20:33:02Z
dc.date.issued2023
dc.description.abstract© 2023, Springer Nature Limited and Centre of Excellence in Genomic Medicine Research, King Abdulaziz University.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 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.
dc.description.funderNPSuisse
dc.description.funderInternational Centre for Genetic Engineering and Biotechnology
dc.description.funderFondecyt
dc.fechaingreso.objetodigital2024-06-03
dc.format.extent13 páginas
dc.fuente.origenScopus
dc.identifier.doi10.1038/s41525-023-00365-w
dc.identifier.issn20567944
dc.identifier.scopusidSCOPUS_ID:85168354480
dc.identifier.urihttp://dx.doi.org/10.1038/s41525-023-00365-w
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/86381
dc.information.autorucEscuela de Ingeniería; De Las Heras Barros, Macarena Cruz; S/I; 1238137
dc.information.autorucEscuela de Medicina; Zanlungo Matsuhiro, Silvana; 0000-0001-8383-9829; 72650
dc.information.autorucFacultad de Ciencias Biológicas; Klein Posternack, Andrés David; S/I; 2966
dc.language.isoen
dc.nota.accesocontenido completo
dc.pagina.final13
dc.pagina.inicio1
dc.publisherNature Research
dc.revistanpj Genomic Medicine
dc.rightsacceso abierto
dc.rights.licenseAttribution 4.0 International (CC BY 4.0)
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/
dc.subject.ddc610
dc.subject.deweyMedicina y salud
dc.titleUnderstanding the phenotypic variability in Niemann-Pick disease type C (NPC): a need for precision medicine
dc.typeartículo de revisión
dc.volumen8
sipa.codpersvinculados1238137
sipa.codpersvinculados72650
sipa.codpersvinculados2966
sipa.trazabilidadSCOPUS;2023-09-03
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