PMID-sentid Pub_year Sent_text comp_official_name comp_offsetprotein_name organism prot_offset 28413817-2 2017 (Diversity of Glycosphingolipid GM2 and Cholesterol Accumulation in NPC1 Patient-Specific iPSC-Derived Neurons; Brain Res. Glycosphingolipids 14-31 NPC intracellular cholesterol transporter 1 Homo sapiens 68-72 32993765-1 2020 STUDY OBJECTIVES: Niemann-Pick type C (NPC) is an autosomal recessive and congenital neurological disorder characterized by the accumulation of cholesterol and glycosphingolipids. Glycosphingolipids 160-178 NPC intracellular cholesterol transporter 1 Homo sapiens 18-37 32993765-1 2020 STUDY OBJECTIVES: Niemann-Pick type C (NPC) is an autosomal recessive and congenital neurological disorder characterized by the accumulation of cholesterol and glycosphingolipids. Glycosphingolipids 160-178 NPC intracellular cholesterol transporter 1 Homo sapiens 39-42 28332184-3 2018 The NPC1 protein is involved in the sorting and recycling of cholesterol and glycosphingolipids in the late endosomal/lysosomal system. Glycosphingolipids 77-95 NPC intracellular cholesterol transporter 1 Homo sapiens 4-8 30710017-4 2019 Cholesterol export requires NPC intracellular cholesterol transporter 1 (NPC1) and NPC2, genetic mutations of which can cause Niemann-Pick type C disease, a disorder characterized by massive lysosomal accumulation of cholesterol and glycosphingolipids. Glycosphingolipids 233-251 NPC intracellular cholesterol transporter 1 Homo sapiens 28-71 30710017-4 2019 Cholesterol export requires NPC intracellular cholesterol transporter 1 (NPC1) and NPC2, genetic mutations of which can cause Niemann-Pick type C disease, a disorder characterized by massive lysosomal accumulation of cholesterol and glycosphingolipids. Glycosphingolipids 233-251 NPC intracellular cholesterol transporter 1 Homo sapiens 73-77 27307499-9 2016 Off-label treatment of patients with NPC1 with miglustat, an inhibitor of glycosphingolipid biosynthesis, significantly decreased CSF calbindin compared with pretreatment concentrations. Glycosphingolipids 74-91 NPC intracellular cholesterol transporter 1 Homo sapiens 37-41 28082351-4 2017 FTY720 greatly increased expression of NPC1 and -2 in human NPC1 mutant fibroblasts that correlated with formation of FTY720-P and significantly reduced the accumulation of cholesterol and glycosphingolipids. Glycosphingolipids 189-207 NPC intracellular cholesterol transporter 1 Homo sapiens 39-50 28082351-4 2017 FTY720 greatly increased expression of NPC1 and -2 in human NPC1 mutant fibroblasts that correlated with formation of FTY720-P and significantly reduced the accumulation of cholesterol and glycosphingolipids. Glycosphingolipids 189-207 NPC intracellular cholesterol transporter 1 Homo sapiens 39-43 27923633-0 2017 Diversity of glycosphingolipid GM2 and cholesterol accumulation in NPC1 patient-specific iPSC-derived neurons. Glycosphingolipids 13-30 NPC intracellular cholesterol transporter 1 Homo sapiens 67-71 28134274-6 2017 While the accumulation of cholesterol and glycosphingolipids is seen as a primary hallmark of NPC1 deficiency, our lipidomics analysis revealed the buildup of several species of glycerophospholipids and other storage lipids in selectively late endosomes/lysosomes of NPC1-KO cells. Glycosphingolipids 42-60 NPC intracellular cholesterol transporter 1 Homo sapiens 94-98 23144710-8 2012 A subset of NPC1 patients on miglustat, a glycosphingolipid synthesis inhibitor, showed significantly decreased levels of FABP3 compared to patients not on miglustat therapy. Glycosphingolipids 42-59 NPC intracellular cholesterol transporter 1 Homo sapiens 12-16 26984608-2 2016 Miglustat, an inhibitor of glycosphingolipid synthesis, has been approved to treat neurological manifestations in adults and children with NP-C. Glycosphingolipids 27-44 NPC intracellular cholesterol transporter 1 Homo sapiens 139-143 25425283-7 2015 It summarizes the current knowledge on the NPC1 and NPC2 proteins and their function in transport of cholesterol within the late endosomal-lysosomal compartment, with emphasis on differences between systemic organs and the brain; it also discusses regulation by membrane lipids of the NPC2-mediated cholesterol trafficking, interplay between cholesterol and sphingomyelin, the metabolic origin of glycosphingolipids stored in brain, and the putative role of free sphingoid bases in pathogenesis. Glycosphingolipids 397-415 NPC intracellular cholesterol transporter 1 Homo sapiens 43-47 25239094-1 2014 BACKGROUND: Niemann-Pick type C (NPC) is an autosomal recessive disease in which cholesterol and glycosphingolipids accumulate in lysosomes due to aberrant cell-transport mechanisms. Glycosphingolipids 97-115 NPC intracellular cholesterol transporter 1 Homo sapiens 12-31 25239094-1 2014 BACKGROUND: Niemann-Pick type C (NPC) is an autosomal recessive disease in which cholesterol and glycosphingolipids accumulate in lysosomes due to aberrant cell-transport mechanisms. Glycosphingolipids 97-115 NPC intracellular cholesterol transporter 1 Homo sapiens 33-36 22572546-1 2012 Niemann-Pick disease type C (NP-C) is a rare inherited neurovisceral disease caused by mutations in either the NPC1 (in 95% of cases) or the NPC2 gene (in around 5% of cases), which lead to impaired intracellular lipid trafficking and accumulation of cholesterol and glycosphingolipids in the brain and other tissues. Glycosphingolipids 267-285 NPC intracellular cholesterol transporter 1 Homo sapiens 0-27 22572546-1 2012 Niemann-Pick disease type C (NP-C) is a rare inherited neurovisceral disease caused by mutations in either the NPC1 (in 95% of cases) or the NPC2 gene (in around 5% of cases), which lead to impaired intracellular lipid trafficking and accumulation of cholesterol and glycosphingolipids in the brain and other tissues. Glycosphingolipids 267-285 NPC intracellular cholesterol transporter 1 Homo sapiens 29-33 22572546-1 2012 Niemann-Pick disease type C (NP-C) is a rare inherited neurovisceral disease caused by mutations in either the NPC1 (in 95% of cases) or the NPC2 gene (in around 5% of cases), which lead to impaired intracellular lipid trafficking and accumulation of cholesterol and glycosphingolipids in the brain and other tissues. Glycosphingolipids 267-285 NPC intracellular cholesterol transporter 1 Homo sapiens 111-115 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. Glycosphingolipids 185-203 NPC intracellular cholesterol transporter 1 Homo sapiens 0-27 22820346-1 2012 Niemann-Pick type C (NPC) is a rare neurodegenerative disorder biochemically characterized by the accumulation of cholesterol and glycosphingolipids in late endosomes and lysosomes of the affected patients. Glycosphingolipids 130-148 NPC intracellular cholesterol transporter 1 Homo sapiens 0-19 22585405-3 2012 Niemann-Pick type C (NPC) disease is a lysosomal storage disorder caused by dysfunction in either of two lysosomal proteins, NPC1 or NPC2, resulting in the storage of multiple lipids, including glycosphingolipids. Glycosphingolipids 194-212 NPC intracellular cholesterol transporter 1 Homo sapiens 125-129 17689147-1 2007 BACKGROUND: Niemann-Pick type C disease (NPC) is an inherited neurodegenerative disorder characterised by an intracellular lipid-trafficking defect with secondary accumulation of glycosphingolipids. Glycosphingolipids 179-197 NPC intracellular cholesterol transporter 1 Homo sapiens 41-44 21344635-1 2011 Niemann-Pick disease type C (NPC) is a rare autosomal recessive lysosomal storage disorder characterized by defective intracellular lipid trafficking, with secondary accumulation of free cholesterol, sphingosine, and glycosphingolipids. Glycosphingolipids 217-235 NPC intracellular cholesterol transporter 1 Homo sapiens 0-27 21344635-1 2011 Niemann-Pick disease type C (NPC) is a rare autosomal recessive lysosomal storage disorder characterized by defective intracellular lipid trafficking, with secondary accumulation of free cholesterol, sphingosine, and glycosphingolipids. Glycosphingolipids 217-235 NPC intracellular cholesterol transporter 1 Homo sapiens 29-32 18774957-1 2009 Niemann-Pick C disease (NPC) is an autosomal recessive neurodegenerative disorder caused by the abnormal function of NPC1 or NPC2 proteins, leading to an accumulation of unesterified cholesterol and glycosphingolipids (GSLs) in the lysosomes. Glycosphingolipids 199-217 NPC intracellular cholesterol transporter 1 Homo sapiens 117-121 18774957-1 2009 Niemann-Pick C disease (NPC) is an autosomal recessive neurodegenerative disorder caused by the abnormal function of NPC1 or NPC2 proteins, leading to an accumulation of unesterified cholesterol and glycosphingolipids (GSLs) in the lysosomes. Glycosphingolipids 219-223 NPC intracellular cholesterol transporter 1 Homo sapiens 117-121 19647672-1 2009 Niemann-Pick disease type C (NP-C) is a lysosomal storage disease in which impaired intracellular lipid trafficking leads to excess storage of cholesterol and glycosphingolipids in the brain and other tissues. Glycosphingolipids 159-177 NPC intracellular cholesterol transporter 1 Homo sapiens 0-27 19647672-1 2009 Niemann-Pick disease type C (NP-C) is a lysosomal storage disease in which impaired intracellular lipid trafficking leads to excess storage of cholesterol and glycosphingolipids in the brain and other tissues. Glycosphingolipids 159-177 NPC intracellular cholesterol transporter 1 Homo sapiens 29-33 18681838-1 2009 BACKGROUND INFORMATION: Within the group of lysosomal storage diseases, NPC1 [NPC (Niemann-Pick type C) 1] disease is a lipidosis characterized by excessive accumulation of free cholesterol as well as gangliosides, glycosphingolipids and fatty acids in the late E/L (endosomal/lysosomal) system (Chen et al., 2005) due to a defect in late endosome lipid egress. Glycosphingolipids 215-233 NPC intracellular cholesterol transporter 1 Homo sapiens 72-76 16785493-1 2006 Niemann-Pick type C1 (NPC1) is a late endosomal/lysosomal transmembrane protein involved in the cellular transport of glycosphingolipids and cholesterol that is mutated in a majority of patients with Niemann-Pick C neurodegenerative disease. Glycosphingolipids 118-136 NPC intracellular cholesterol transporter 1 Homo sapiens 0-20 16785493-1 2006 Niemann-Pick type C1 (NPC1) is a late endosomal/lysosomal transmembrane protein involved in the cellular transport of glycosphingolipids and cholesterol that is mutated in a majority of patients with Niemann-Pick C neurodegenerative disease. Glycosphingolipids 118-136 NPC intracellular cholesterol transporter 1 Homo sapiens 22-26 15262277-6 2004 The demonstration that treatment with miglustat, which has no direct effect on cholesterol metabolism, corrects the abnormal lipid trafficking seen in B lymphocytes in NP-C indicates that glycosphingolipid accumulation is the primary pathogenetic event in NP-C. Glycosphingolipids 188-205 NPC intracellular cholesterol transporter 1 Homo sapiens 256-260 15465423-2 2004 Mutations in either NPC1 or NPC2 result in aberrant lipid transport from endocytic compartments, which results in lysosomal storage of a complex mixture of lipids, primarily cholesterol and glycosphingolipids. Glycosphingolipids 190-208 NPC intracellular cholesterol transporter 1 Homo sapiens 20-24 15262277-6 2004 The demonstration that treatment with miglustat, which has no direct effect on cholesterol metabolism, corrects the abnormal lipid trafficking seen in B lymphocytes in NP-C indicates that glycosphingolipid accumulation is the primary pathogenetic event in NP-C. Glycosphingolipids 188-205 NPC intracellular cholesterol transporter 1 Homo sapiens 168-172 14982851-1 2004 Niemann-Pick type C disease (NPC) is characterized by neurodegeneration secondary to impaired cholesterol trafficking and excessive glycosphingolipid storage. Glycosphingolipids 132-149 NPC intracellular cholesterol transporter 1 Homo sapiens 29-32 34296265-1 2021 The rare, fatal neurodegenerative disorder Niemann-Pick disease type C1 (NPC1) arises from lysosomal accumulation of unesterified cholesterol and glycosphingolipids. Glycosphingolipids 146-164 NPC intracellular cholesterol transporter 1 Homo sapiens 73-77 12070301-5 2002 Our results demonstrate a role for Rab7 and Rab9 in the Golgi targeting of glycosphingolipids and suggest a new therapeutic approach for restoring normal lipid trafficking in NP-C cells. Glycosphingolipids 75-93 NPC intracellular cholesterol transporter 1 Homo sapiens 175-179 11013265-6 2000 Results using the inhibitor N-butyldeoxynojirimycin, which depletes cellular complex glycosphingolipids, demonstrates that the cholesterol trafficking defect in NPC1 cells is not caused by ganglioside accumulation. Glycosphingolipids 85-103 NPC intracellular cholesterol transporter 1 Homo sapiens 161-165 34810067-1 2021 Niemann-Pick C disease (NPC) is a lysosomal disease caused by mutations in NPC1 or NPC2 genes responsible for intracellular accumulation of free cholesterol and glycosphingolipids in a variety of tissues. Glycosphingolipids 161-179 NPC intracellular cholesterol transporter 1 Homo sapiens 75-79 34445564-4 2021 The first trait of NPC is the accumulation of unesterified cholesterol and other lipids, like sphingosine and glycosphingolipids, in the late endosomal and lysosomal compartments, which causes the blockade of autophagic flux and the impairment of mitochondrial functions. Glycosphingolipids 110-128 NPC intracellular cholesterol transporter 1 Homo sapiens 19-22