| scholarly article | Q13442814 |
| P2093 | author name string | Marie T Vanier | |
| Hana Vlaskova | |||
| Helena Hulkova | |||
| Helena Jahnova | |||
| Helena Poupetova | |||
| Lenka Dvorakova | |||
| Martin Hrebicek | |||
| Jakub Sikora | |||
| Milan Jirsa | |||
| Befekadu Asfaw | |||
| Jana Ledvinova | |||
| Ladislav Kuchar | |||
| Filip Majer | |||
| Ondrej Luksan | |||
| Martin Reboun | |||
| Dita Musalkova | |||
| Gabriela Storkanova | |||
| P2860 | cites work | Niemann-Pick disease type C | Q21202883 |
| Identification of HE1 as the second gene of Niemann-Pick C disease | Q24290663 | ||
| Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis | Q24315133 | ||
| A gene network regulating lysosomal biogenesis and function | Q24339409 | ||
| Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1. | Q24533508 | ||
| Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop | Q24533516 | ||
| Niemann-Pick C1 disease: the I1061T substitution is a frequent mutant allele in patients of Western European descent and correlates with a classic juvenile phenotype | Q24534213 | ||
| Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction | Q25938986 | ||
| Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method | Q25938999 | ||
| A simple method for the isolation and purification of total lipides from animal tissues | Q25939009 | ||
| Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review | Q26747384 | ||
| Structural Insights into the Niemann-Pick C1 (NPC1)-Mediated Cholesterol Transfer and Ebola Infection | Q27706522 | ||
| The genomic organization and polymorphism analysis of the human Niemann-Pick C1 gene | Q28140694 | ||
| MLN64 mediates egress of cholesterol from endosomes to mitochondria in the absence of functional Niemann-Pick Type C1 protein | Q28266767 | ||
| Cholesterol transport through lysosome-peroxisome membrane contacts | Q28512791 | ||
| Niemann-Pick type C 1 function requires lumenal domain residues that mediate cholesterol-dependent NPC2 binding | Q28585682 | ||
| Genetic evidence for nonredundant functional cooperativity between NPC1 and NPC2 in lipid transport | Q28594812 | ||
| A perfect message: RNA surveillance and nonsense-mediated decay | Q29616125 | ||
| Intracisternal cyclodextrin prevents cerebellar dysfunction and Purkinje cell death in feline Niemann-Pick type C1 disease | Q30645985 | ||
| The National Niemann-Pick Type C1 Disease Database: correlation of lipid profiles, mutations, and biochemical phenotypes | Q33577880 | ||
| Observational, retrospective study of a large cohort of patients with Niemann-Pick disease type C in the Czech Republic: a surprisingly stable diagnostic rate spanning almost 40 years | Q34324083 | ||
| Heat shock protein-based therapy as a potential candidate for treating the sphingolipidoses. | Q34539778 | ||
| High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets | Q35575793 | ||
| Niemann-Pick Type C disease: characterizing lipid levels in patients with variant lysosomal cholesterol storage | Q35771175 | ||
| Observational cohort study of the natural history of Niemann-Pick disease type C in the UK: a 5-year update from the UK clinical database | Q35868559 | ||
| The Niemann-Pick C1 gene is downregulated by feedback inhibition of the SREBP pathway in human fibroblasts | Q36558378 | ||
| A rare case of Niemann-Pick disease type C without neurological involvement in a 66-year-old patient | Q36571707 | ||
| Steroidogenic acute regulatory protein (StAR), a novel mitochondrial cholesterol transporter | Q36791357 | ||
| Clues to the mechanism of cholesterol transfer from the structure of NPC1 middle lumenal domain bound to NPC2. | Q37247724 | ||
| Mitochondrial cholesterol loading exacerbates amyloid beta peptide-induced inflammation and neurotoxicity | Q37339912 | ||
| Cyclodextrin overcomes deficient lysosome-to-endoplasmic reticulum transport of cholesterol in Niemann-Pick type C cells | Q37428937 | ||
| Cholesterol supply and SREBPs modulate transcription of the Niemann-Pick C-1 gene in steroidogenic tissues | Q38293544 | ||
| Lysosome and endoplasmic reticulum quality control pathways in Niemann-Pick type C disease | Q38793219 | ||
| Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1. | Q39125751 | ||
| The proteasome inhibitor bortezomib reduced cholesterol accumulation in fibroblasts from Niemann-Pick type C patients carrying missense mutations. | Q39143840 | ||
| Differences in Niemann-Pick disease Type C symptomatology observed in patients of different ages | Q40417608 | ||
| Regulation of niemann-pick c1 gene expression by the 3'5'-cyclic adenosine monophosphate pathway in steroidogenic cells | Q40674347 | ||
| Determinants of NPC1 expression and action: key promoter regions, posttranscriptional control, and the importance of a "cysteine-rich" loop | Q40861470 | ||
| Niemann-Pick Type C2 protein contributes to the transport of endosomal cholesterol to mitochondria without interacting with NPC1. | Q41292613 | ||
| Genotype-phenotype relationship of Niemann-Pick disease type C: a possible correlation between clinical onset and levels of NPC1 protein in isolated skin fibroblasts | Q43075754 | ||
| Niemann-Pick type C1 I1061T mutant encodes a functional protein that is selected for endoplasmic reticulum-associated degradation due to protein misfolding | Q43089343 | ||
| Long-term miglustat therapy in children with Niemann-Pick disease type C. | Q43263006 | ||
| Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterations | Q43692244 | ||
| Detecting and measuring cotranslational protein degradation in vivo | Q44397626 | ||
| Altered cholesterol metabolism in Niemann-Pick type C1 mouse brains affects mitochondrial function | Q45219862 | ||
| High throughput quantification of cholesterol and cholesteryl ester by electrospray ionization tandem mass spectrometry (ESI-MS/MS). | Q46928125 | ||
| The Spectrum of Niemann-Pick Type C Disease in Greece. | Q47097196 | ||
| Subclinical course of adult visceral Niemann-Pick type C1 disease. A rare or underdiagnosed disorder? | Q48486829 | ||
| Laboratory diagnosis of Niemann-Pick disease type C: the filipin staining test. | Q50961543 | ||
| Consensus clinical management guidelines for Niemann-Pick disease type C. | Q52602028 | ||
| Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype correlations. | Q54400417 | ||
| Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect | Q57061194 | ||
| Different Niemann-Pick C1 Genotypes Generate Protein Phenotypes that Vary in their Intracellular Processing, Trafficking and Localization | Q64109255 | ||
| Group C Niemann-Pick disease: faulty regulation of low-density lipoprotein uptake and cholesterol storage in cultured fibroblasts | Q69131540 | ||
| Type C Niemann-Pick disease. Abnormal metabolism of low density lipoprotein in homozygous and heterozygous fibroblasts | Q69664010 | ||
| Staining of cholesterol with the fluorescent antibiotic "filipin" | Q70028723 | ||
| Type C Niemann-Pick disease: spectrum of phenotypic variation in disruption of intracellular LDL-derived cholesterol processing | Q70220187 | ||
| Discovery of oxysterol-derived pharmacological chaperones for NPC1: implication for the existence of second sterol-binding site | Q86456766 | ||
| P4510 | describes a project that uses | ImageJ | Q1659584 |
| P433 | issue | 1 | |
| P304 | page(s) | 85 | |
| P577 | publication date | 2020-04-05 | |
| P1433 | published in | Orphanet Journal of Rare Diseases | Q15756117 |
| P1476 | title | Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations | |
| P478 | volume | 15 |
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