PMID-sentid Pub_year Sent_text comp_official_name comp_offsetprotein_name organism prot_offset 20059748-1 2010 Niemann-Pick disease type C is a complex lysosomal storage disorder caused by mutations in either the NPC1 or NPC2 genes that is characterized at the cellular level by the storage of multiple lipids, defective lysosomal calcium homeostasis and unique trafficking defects. Calcium 220-227 NPC intracellular cholesterol transporter 1 Homo sapiens 102-106 31601621-0 2019 Disease-associated mutations in Niemann-Pick type C1 alter ER calcium signaling and neuronal plasticity. Calcium 62-69 NPC intracellular cholesterol transporter 1 Homo sapiens 32-52 19566836-14 2010 Loss-of-function mutations in the NPC1 gene lead to a failure of the calcium-mediated fusion of endosomes with lysosomes, resulting in the accumulation of cholesterol and other lipids in late endosomes and lysosomes. Calcium 69-76 NPC intracellular cholesterol transporter 1 Homo sapiens 34-38 26014711-5 2015 Impaired cholesterol trafficking and unesterified cholesterol accumulation in the late endosomes and lysosomals, as a results of mutations in NPC1 or NPC2 genes, are initial for the disease, and defective cellular autophagy, defective lysosomal calcium homeostasis and oxidative stress may all play roles in the physiological processes. Calcium 245-252 NPC intracellular cholesterol transporter 1 Homo sapiens 142-146 25946402-6 2016 Niemann-Pick disease type C is a rare, devastating, inherited lysosomal storage disease with a unique cellular phenotype characterized by lysosomal accumulation of sphingosine, various glycosphingolipids and cholesterol and a reduction in lysosomal calcium. Calcium 249-256 NPC intracellular cholesterol transporter 1 Homo sapiens 0-27 24131821-19 2013 We were able to describe functional/structural sub-domain architecture related to key residues for starch cleavage, calcium, and chloride binding sites in the alpha-amylase, and sterol opening-defining modules and disease-related residues in the NPC1. Calcium 116-123 NPC intracellular cholesterol transporter 1 Homo sapiens 246-250 25637190-0 2015 Rescue of an in vitro neuron phenotype identified in Niemann-Pick disease, type C1 induced pluripotent stem cell-derived neurons by modulating the WNT pathway and calcium signaling. Calcium 163-170 NPC intracellular cholesterol transporter 1 Homo sapiens 53-82 24068806-3 2013 Since adenosine A2A receptors (A2ARs) control lysosome trafficking and pH, which closely regulates lysosomal calcium, we hypothesized a role for these receptors in NPC1. Calcium 109-116 NPC intracellular cholesterol transporter 1 Homo sapiens 164-168 22505584-5 2012 We demonstrate that targeting endoplasmic reticulum (ER) calcium levels using ryanodine receptor (RyR) antagonists increased steady-state levels of the NPC1 I1061T protein. Calcium 57-64 NPC intracellular cholesterol transporter 1 Homo sapiens 152-156