ReviewBrain pathology (Zurich, Switzerland)1998
Recent advances in elucidating Niemann-Pick C disease.
Review in Brain pathology (Zurich, Switzerland), 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
27 citing papers in PubMed, 135 citations in OpenAlex.
- Expression Profiles of Exosomal miRNAs in Gaucher Patients and Their Association With Severity of Bone Involvement.Journal of inherited metabolic disease · 2025Article
- Differently increased volumes of multiple brain areas inFrontiers in neuroanatomy · 2024Article
- Compound Heterozygote Mutation in the SMPD1 Gene Leading to Nieman-Pick Disease Type A.The American journal of case reports · 2022Article
- Increased exosome secretion in neurons aging in vitro by NPC1-mediated endosomal cholesterol buildup.Life science alliance · 2021Article
- Recent neuroimaging, neurophysiological, and neuropathological advances for the understanding of NPC.F1000Research · 2018Review
- Complex lipid trafficking in Niemann-Pick disease type C.Journal of inherited metabolic disease · 2015Review
- Atypical multisensory integration in Niemann-Pick type C disease - towards potential biomarkers.Orphanet journal of rare diseases · 2014Article
- Niemann-Pick C disease and mobilization of lysosomal cholesterol by cyclodextrin.Journal of lipid research · 2014Review
- Alterations in gene expression in mutant amyloid precursor protein transgenic mice lacking Niemann-Pick type C1 protein.PloS one · 2013Article
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- Niemann-Pick disease type C.Orphanet journal of rare diseases · 2010Review
- Increased expression of cholesterol transporter ABCA1 is highly correlated with severity of dementia in AD hippocampus.Brain research · 2010Article
- Mitotic epitopes are incorporated into age-dependent neurofibrillary tangles in Niemann-Pick disease type C.Brain pathology (Zurich, Switzerland) · 2010Article
- Increased activity and altered subcellular distribution of lysosomal enzymes determine neuronal vulnerability in Niemann-Pick type C1-deficient mice.The American journal of pathology · 2009Article
- A neurodegenerative disease affecting synaptic connections in Drosophila mutant for the tumor suppressor morphogen Patched.Developmental biology · 2009Article
- Lentivector-mediated RNAi efficiently downregulates expression of murine TNF-alpha gene in vitro and in vivo.Journal of Huazhong University of Science and Technology. Medical sciences = Hua zhong ke ji da xue xue bao. Yi xue Ying De wen ban = Huazhong keji daxue xuebao. Yixue Yingdewen ban · 2009Article
- Roles of cholesterol and lipids in the etiopathogenesis of Alzheimer's disease.Journal of biomedicine & biotechnology · 2006Article
- News and views in Histochemistry and Cell Biology.Histochemistry and cell biology · 2004Review
- Binding between the Niemann-Pick C1 protein and a photoactivatable cholesterol analog requires a functional sterol-sensing domain.Proceedings of the National Academy of Sciences of the United States of America · 2004Article
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Lysosomal sequestration of endocytosed LDL-derived cholesterol, premature and abnormal enrichment of cholesterol in trans Golgi cisternae and accompanying anomalies in intracellular sterol trafficking are the hallmark phenotypic features of the Niemann-Pick C (NPC) lesion. A variable severity of these alterations has been observed, with only partial correlation between clinical and biochemical phenotypes. NPC also affects the metabolism of sphingolipids, and other biochemical abnormalities have been reported. Occurrence of neurofibrillary tangles in the brain of patients with a slowly progressive course is a recent intriguing observation. Genetic heterogeneity was established by cell hybridization and linkage studies. The two complementation groups could not be distinguished from each other by clinical, cellular or biochemical criteria, suggesting that the two gene products may interact or function sequentially. The major (> 90% of patients) NPC1 gene was mapped to 18q11 and recently isolated by positional cloning. The cDNA sequence predicts a 1278-amino acid protein, with 13 to 16 possible transmembrane regions and a putative cholesterol-sensing domain. Two murine models of the disease involving the same gene are known. The murine cDNA and the npc(nih) mutation have been characterized. Described homologies of the NPC1 protein are in line with its putative involvement in cellular cholesterol traffic.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.