ArticleProceedings of the National Academy of Sciences of the United States of America1993
Linkage of Niemann-Pick disease type C to human chromosome 18.
Article in Proceedings of the National Academy of Sciences of the United States of America, 1993. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers.
What it found
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Who cites it
35 citing papers in PubMed, 120 citations in OpenAlex.
- Investigating p.Ala1035Val in NPC1: New Cellular Models for Niemann-Pick Type C Disease.International journal of molecular sciences · 2024Article
- Global and Targeted Metabolomics for Revealing Metabolomic Alteration in Niemann-Pick Disease Type C Model Cells.Metabolites · 2024Article
- Traits, phylogeny and host cell receptors predict Ebolavirus host status among African mammals.PLoS neglected tropical diseases · 2022Article
- Metabolic Alteration Analysis of Steroid Hormones in Niemann-Pick Disease Type C Model Cell Using Liquid Chromatography/Tandem Mass Spectrometry.International journal of molecular sciences · 2022Article
- Elevated Alpha-Fetoprotein in Infantile-Onset Niemann-Pick Type C Disease with Liver Involvement.Children (Basel, Switzerland) · 2022Article
- Searching, Structural Determination, and Diagnostic Performance Evaluation of Biomarker Molecules for Niemann-Pick Disease Type C Using Liquid Chromatography/Tandem Mass Spectrometry.Mass spectrometry (Tokyo, Japan) · 2022Review
- The Presence of Vacuolated Kupffer Cells Raises a Clinical Suspicion of Niemann-Pick Disease Type C in Neonatal Cholestasis.Frontiers in genetics · 2022Article
- Treatment trials in Niemann-Pick type C disease.Metabolic brain disease · 2021Review
- A Case Series on Genotype and Outcome of Liver Transplantation in Children with Niemann-Pick Disease Type C.Children (Basel, Switzerland) · 2021Article
- Investigation of diagnostic performance of five urinary cholesterol metabolites for Niemann-Pick disease type C.Journal of lipid research · 2019Article
- Autophagic and endo-lysosomal dysfunction in neurodegenerative disease.Molecular brain · 2019Review
- Is autophagy an elective strategy to protect neurons from dysregulated cholesterol metabolism?Neural regeneration research · 2019Review
- Lysosomal and Mitochondrial Liaisons in Niemann-Pick Disease.Frontiers in physiology · 2017Review
- Reduction of TMEM97 increases NPC1 protein levels and restores cholesterol trafficking in Niemann-pick type C1 disease cells.Human molecular genetics · 2016Article
- Niemann-Pick C disease and mobilization of lysosomal cholesterol by cyclodextrin.Journal of lipid research · 2014Review
- Characterization of a spontaneous novel mutation in the NPC2 gene in a cat affected by Niemann Pick type C disease.PloS one · 2014Article
- Niemann-Pick disease type C symptomatology: an expert-based clinical description.Orphanet journal of rare diseases · 2013Review
- A human neuronal model of Niemann Pick C disease developed from stem cells isolated from patient's skin.Orphanet journal of rare diseases · 2013Article
- Treatment of Human Fibroblasts Carrying NPC1 Missense Mutations with MG132 Leads to an Improvement of Intracellular Cholesterol Trafficking.JIMD reports · 2012Article
- Early steps in steroidogenesis: intracellular cholesterol trafficking.Journal of lipid research · 2011Review
Corrections and comments
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Authors and funding
10 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We analyzed the involvement of chromosome 18 in Niemann-Pick disease type C (NPC), an autosomal recessive cholesterol-processing disorder. Within affected offspring, the chromosome 18 parental contributions were identified by using allele-specific microsatellite markers. Significant linkage of NPC to an 18p genomic marker, D18S40, was indicated by a two-point lod score of 3.84. Analysis of meiotic chromosomal breakpoint patterns among the affected individuals indicated that the NPC gene is pericentromerically localized on human chromosome 18.
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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.