Beneficial effects of primidone in Niemann-Pick disease type C (NPC)-model cells and mice: Reduction of unesterified cholesterol levels in cells and extension of lifespan in mice.
Sign Up to like & getrecommendations! Published in 2021 at "European journal of pharmacology"
DOI: 10.1016/j.ejphar.2021.173907
Abstract: Niemann-Pick disease type C (NPC) is caused by a loss of function of either NPC1 or NPC2 protein, resulting in the accumulation of unesterified, free-cholesterol (free-C) in cells/tissues and thus leading to cell/tissue damage. In… read more here.
Keywords: npc1 null; type npc; cholesterol; pick disease ... See more keywords
Therapeutic Potential of αS Evolvability for Neuropathic Gaucher Disease
Sign Up to like & getrecommendations! Published in 2021 at "Biomolecules"
DOI: 10.3390/biom11020289
Abstract: Gaucher disease (GD), the most common lysosomal storage disorder (LSD), is caused by autosomal recessive mutations of the glucocerebrosidase gene, GBA1. In the majority of cases, GD has a non-neuropathic chronic form with adult onset… read more here.
Keywords: type npc; gaucher disease; gd2; evolvability ... See more keywords