PMID-sentid Pub_year Sent_text comp_official_name comp_offsetprotein_name organism prot_offset 14989468-8 2003 This difference in the cellular distribution of GM2 in NPC1 and NPC2 null mutants is the first report of a variation in the phenotypic expression of these genotypically distinct lesions. gm2 48-51 NPC intracellular cholesterol transporter 1 Homo sapiens 55-59 34592985-8 2021 NPC1-/- i3Neurons recapitulate cardinal cellular NPC1 pathological features including perinuclear endolysosomal storage of unesterified cholesterol, accumulation of GM2 and GM3 gangliosides, mitochondrial dysfunction, and impaired axonal lysosomal transport. gm2 165-168 NPC intracellular cholesterol transporter 1 Homo sapiens 0-4 28666962-1 2017 Niemann-Pick disease type C1 (NPC1) is a rare progressive neurodegenerative disorder caused by mutations in the NPC1 gene, resulting mainly in the accumulation of cholesterol and the ganglioside GM2. gm2 195-198 NPC intracellular cholesterol transporter 1 Homo sapiens 0-28 28666962-1 2017 Niemann-Pick disease type C1 (NPC1) is a rare progressive neurodegenerative disorder caused by mutations in the NPC1 gene, resulting mainly in the accumulation of cholesterol and the ganglioside GM2. gm2 195-198 NPC intracellular cholesterol transporter 1 Homo sapiens 30-34 28666962-1 2017 Niemann-Pick disease type C1 (NPC1) is a rare progressive neurodegenerative disorder caused by mutations in the NPC1 gene, resulting mainly in the accumulation of cholesterol and the ganglioside GM2. gm2 195-198 NPC intracellular cholesterol transporter 1 Homo sapiens 112-116 27923633-11 2017 Taken together, this is the first study showing an accumulation of GM2 in neuronal derivatives of patient-specific iPSCs and thus proving further disease-specific hallmarks in this human in vitro model of NPC1. gm2 67-70 NPC intracellular cholesterol transporter 1 Homo sapiens 205-209