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Genes (18)
Species: human : 18 | |
Human | STARD3NL | 83930 | STARD3 N-terminal like | overexpression does not rescue the Niemann-Pick type C lipid storage phenotype; overexpression alters severely the endocytic compartment by leading at steady state to the accumulation of enlarged endosomes | Human | FTO | 79068 | fat mass and obesity associated | In addition to FTO and MC4R, we detected significant association of obesity with three new risk loci in NPC1 (endosomal/lysosomal Niemann-Pick C1 gene), near MAF (encoding the transcription factor c-MAF) and near PTER (phosphotriesterase-related gene) | Human | NPC1L1 | 29881 | NPC1-like 1 | the present data show that lycopene absorption is, at least in part, mediated by SR-BI but not by Niemann-Pick disease type C1, in human intestinal cells and mice | Human | NPC2 | 10577 | Niemann-Pick disease, type C2 | Review of NPC1 and HE1/NPC2 roles regulating cholesterol transport through endosomal/lysosomal system and in Niemann-Pick type C disease | Human | RAB9A | 9367 | RAB9A, member RAS oncogene family | cholesterol contributes directly to the sequestration of Rab9 on Niemann-Pick type C cell membranes, which in turn, disrupts mannose 6-phosphate receptor trafficking | Human | RAB7A | 7879 | RAB7A, member RAS oncogene family | ATP7B resides in the late endosomes with Rab7 and the Niemann-Pick C1 protein and translocates copper from the cytosol to the late endosomal lumen, participating in biliary copper excretion via lysosomes | Human | VIM | 7431 | vimentin | Endosomal lipid accumulation in Niemann-Pick type C1 disease leads to inhibition of protein kinase C, hypophosphorylation of vimentin and Rab9 entrapment | Human | TLR4 | 7099 | toll-like receptor 4 | INFERRED, Score=800, UMLKSK CUI: C0028064 | Human | SREBF2 | 6721 | sterol regulatory element binding transcription factor 2 | Modulation of human Niemann-Pick disease, type C1 protein expression and promoter activity by cholesterol in a =sterol regulatory element binding protein-2 dependent mechanism | Human | SMPD1 | 6609 | sphingomyelin phosphodiesterase 1, acid lysosomal | Six novel base changes and three frameshift mutations were identified amoung 18 Italian Niemann Pick disease patients in SMPD1 analysis of SMPD1 mutations in Italian patients affected by Niemann Pick Type B disease [case report] Mutation analysis detected 14 novel SMPD1 mutations in Italian Niemann-Pick A patients Marked deficiencies of SMPD1 activity in primary skin fibroblasts harvested from Niemann-Pick disease patients | Human | CCL18 | 6362 | chemokine (C-C motif) ligand 18 (pulmonary and activation-regulated) | INFERRED, Score=800, UMLKSK CUI: C0028064 | Human | RAB4A | 5867 | RAB4A, member RAS oncogene family | Data suggest that abnormal membrane recycling in Niemann-Pick type A and C lipid storage disease fibroblasts results from specific inhibition of rab4 function by excess cholesterol in early endosomes | Human | NPC1 | 4864 | Niemann-Pick disease, type C1 | Review of NPC1 and HE1/NPC2 roles regulating cholesterol transport through endosomal/lysosomal system and in Niemann-Pick type C disease Our results will contribute to defining the association between the clinical phenotypes and the genetic abnormalities in Niemann-Pick C disease Niemann-Pick C1 functions in regulating lysosomal amine content Results demonstrate that there is direct binding between Niemann-Pick type C1 protein (NPC1) and azocholestanol, which does not require NPC2 but requires a functional sterol-sensing domain within NPC1 ATP7B resides in the late endosomes with Rab7 and the Niemann-Pick C1 protein and translocates copper from the cytosol to the late endosomal lumen, participating in biliary copper excretion via lysosomes 15 mutations, eight of which were previously unreported, from Niemann-Pick type C disease patients cholesterol contributes directly to the sequestration of Rab9 on Niemann-Pick type C cell membranes, which in turn, disrupts mannose 6-phosphate receptor trafficking first example of a splicing defect due to a mutation in the lariat branch point sequence in an intron of NPC1, found in Niemann-Pick type C patients Niemann-Pick C1 protein regulates cholesterol transport to the trans-Golgi network and plasma membrane caveolae | Human | GBA | 2629 | glucosidase, beta, acid | INFERRED, Score=800, UMLKSK CUI: C0028064 | Human | CHIT1 | 1118 | chitinase 1 (chitotriosidase) | INFERRED, Score=800, UMLKSK CUI: C0028064 | Human | ATP7B | 540 | ATPase, Cu++ transporting, beta polypeptide | ATP7B resides in the late endosomes with Rab7 and the Niemann-Pick C1 protein and translocates copper from the cytosol to the late endosomal lumen, participating in biliary copper excretion via lysosomes | Human | APOE | 348 | apolipoprotein E | Niemann-Pick type C disease: accelerated neurofibrillary tangle formation and amyloid beta deposition associated with apolipoprotein E epsilon 4 homozygosity ? same as the adult, chronic or B form of Niemann-Pick disease | Human | ABCA1 | 19 | ATP-binding cassette, sub-family A (ABC1), member 1 | INFERRED, Score=800, UMLKSK CUI: C0028064 |
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