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.

Pallottini, V., & Pfrieger, F.W. (2020). Understanding and Treating Niemann-Pick Type C Disease: Models Matter. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 21(23), 8979 [10.3390/ijms21238979].

Understanding and Treating Niemann-Pick Type C Disease: Models Matter

Pallottini, Valentina
;
2020

Abstract

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.
Pallottini, V., & Pfrieger, F.W. (2020). Understanding and Treating Niemann-Pick Type C Disease: Models Matter. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 21(23), 8979 [10.3390/ijms21238979].
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/11590/375167
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