A new study in the peer-reviewed journal Human Gene Therapy showed that more than half of individuals with Niemann-Pick disease, type C1 (NPC1) who were tested lacked neutralizing antibodies ...

NPC1 is a rare, fatal neurodegenerative disorder, for which systemic AAV9-based gene therapy in mouse models has shown some success. The presence of neutralizing antibodies against AAV can reduce ...

Background: Genetic studies have implicated the NPC1 gene (Niemann Pick type C1) in susceptibility to obesity. Methods: To assess the potential function of NPC1 in obesity, we determined its ...

including an ongoing Phase 3 trial for the potential treatment of Niemann-Pick Disease Type C1 (“NPC1”), a rare, fatal, and progressive genetic disorder. Rafael also holds a majority equity ...

A new study in the peer-reviewed journal Human Gene Therapy showed that more than half of individuals with Niemann-Pick disease, type C1 (NPC1) who were tested lacked neutralizing antibodies ...

TFEB overexpression or pharmacological activation of TFEB ameliorates cholesterol accumulation in U18666A-induced HeLa NPC1 model. A working scheme to illustrate that small-molecule TFEB agonist ...

Here, we show that transgenic overexpression of TFEB, but not TFE3 (another member of MiTF family) facilitates cholesterol clearance in various NPC1 cell models. Pharmacological activation of TFEB by ...

BmE cells (2 × 10 5 cells/well) seeded in twelve-well culture plates were incubated with one of the following antibodies: mouse anti-NPC1-A, anti-NPC1-I polyclonal antibody, rabbit anti-NPC1-C ...

Key components of the lysosomal membrane include integral proteins (LAMP1, LAMP2A), ion channels (TRPMLs), trafficking and fusion proteins (Synaptotagmin VII, VAMP7), lipid and amino acid transporters ...

Genetic dystonias were previously classified according to a DYT (dystonia) number assigned to each disease locus. This has been revised to reference the gene name rather than the disease locus.