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Understanding and Treating Niemann–Pick Type C Disease: Models Matter
Biomedical research aims to understand the molecular mechanisms causing human diseases and to develop curative therapies. So far, these goals have been achieved for a small fraction of diseases, limiting factors being the availability, validity, and use of experimental models. Niemann–Pick type C (N...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7730076/ https://www.ncbi.nlm.nih.gov/pubmed/33256121 http://dx.doi.org/10.3390/ijms21238979 |
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author | Pallottini, Valentina Pfrieger, Frank W. |
author_facet | Pallottini, Valentina Pfrieger, Frank W. |
author_sort | Pallottini, Valentina |
collection | PubMed |
description | Biomedical research aims to understand the molecular mechanisms causing human diseases and to develop curative therapies. So far, these goals have been achieved for a small fraction of diseases, limiting factors being the availability, validity, and use of experimental models. Niemann–Pick type C (NPC) is a prime example for a disease that lacks a curative therapy despite substantial breakthroughs. This rare, fatal, and autosomal-recessive disorder is caused by defects in NPC1 or NPC2. These ubiquitously expressed proteins help cholesterol exit from the endosomal–lysosomal system. The dysfunction of either causes an aberrant accumulation of lipids with patients presenting a large range of disease onset, neurovisceral symptoms, and life span. Here, we note general aspects of experimental models, we describe the line-up used for NPC-related research and therapy development, and we provide an outlook on future topics. |
format | Online Article Text |
id | pubmed-7730076 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-77300762020-12-12 Understanding and Treating Niemann–Pick Type C Disease: Models Matter Pallottini, Valentina Pfrieger, Frank W. Int J Mol Sci Review Biomedical research aims to understand the molecular mechanisms causing human diseases and to develop curative therapies. So far, these goals have been achieved for a small fraction of diseases, limiting factors being the availability, validity, and use of experimental models. Niemann–Pick type C (NPC) is a prime example for a disease that lacks a curative therapy despite substantial breakthroughs. This rare, fatal, and autosomal-recessive disorder is caused by defects in NPC1 or NPC2. These ubiquitously expressed proteins help cholesterol exit from the endosomal–lysosomal system. The dysfunction of either causes an aberrant accumulation of lipids with patients presenting a large range of disease onset, neurovisceral symptoms, and life span. Here, we note general aspects of experimental models, we describe the line-up used for NPC-related research and therapy development, and we provide an outlook on future topics. MDPI 2020-11-26 /pmc/articles/PMC7730076/ /pubmed/33256121 http://dx.doi.org/10.3390/ijms21238979 Text en © 2020 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Review Pallottini, Valentina Pfrieger, Frank W. Understanding and Treating Niemann–Pick Type C Disease: Models Matter |
title | Understanding and Treating Niemann–Pick Type C Disease: Models Matter |
title_full | Understanding and Treating Niemann–Pick Type C Disease: Models Matter |
title_fullStr | Understanding and Treating Niemann–Pick Type C Disease: Models Matter |
title_full_unstemmed | Understanding and Treating Niemann–Pick Type C Disease: Models Matter |
title_short | Understanding and Treating Niemann–Pick Type C Disease: Models Matter |
title_sort | understanding and treating niemann–pick type c disease: models matter |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7730076/ https://www.ncbi.nlm.nih.gov/pubmed/33256121 http://dx.doi.org/10.3390/ijms21238979 |
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