Complex lipid trafficking in Niemann-Pick disease type C.
Citations
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251 citations
Cites background from "Complex lipid trafficking in Nieman..."
...Genetic and biochemical characterizations revealed that NPC1 and NPC2 cooperate to export low density lipoprotein (LDL)-derived cholesterol from late endosomes and lysosomes to other cellular compartments (Infante et al., 2008; Sleat et al., 2004; Vanier, 2015)....
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229 citations
Cites background from "Complex lipid trafficking in Nieman..."
...A deficiency in NPC1 or NPC2 is responsible for Niemann–Pick type C disease, which is a rare neurovisceral disorder characterized by FC accumulation in most tissues, including the liver [170,171]....
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...Niemann–Pick C1 and C2 proteins, NPC1 and NPC2, are involved in the trafficking of endocytosed lipoprotein cholesterol from the endolysosomal compartment to the rest of the cell [170,171]....
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194 citations
Cites background from "Complex lipid trafficking in Nieman..."
...Disease causing mutations in either gene result in tissue accumulation of multiple lipids (see Ref [8] for review)....
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...References related to a single topic (i.e., Epidemiology, Genetics, Pathophysiology, Clinical Diagnosis, Laboratory, Imaging, Therapy, Recommendations) were pulled together and the GDG was divided into subgroups aimed to critically appraise references devoted to a specific topic....
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...In addition, the European Metabolic Reference network (MetabERN) has adopted this guideline for the management of NPC patients within the network....
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...Referral to a clinical geneticist or genetic counsellor should be considered upon the diagnosis of NPC. Strength of recommendation: 1 Level of evidence: A Experts opinion: completely agree (81%), mostly agree (19%), partially agree (0%), mostly disagree (0...
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168 citations
References
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"Complex lipid trafficking in Nieman..." refers background in this paper
...The NPC1 and NPC2 genes were identified in 1997 and 2000, respectively (Carstea et al 1997; Naureckiene et al 2000)....
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974 citations
817 citations
"Complex lipid trafficking in Nieman..." refers background in this paper
...The NPC1 and NPC2 genes were identified in 1997 and 2000, respectively (Carstea et al 1997; Naureckiene et al 2000)....
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...At the time its causative role in NPC was discovered (Naureckiene et al 2000), HE1 had already been described as a cholesterol-binding protein....
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762 citations
"Complex lipid trafficking in Nieman..." refers background in this paper
...More recently, Platt and collaborators (Lloyd-Evans et al 2008) made the observation of a reduced calcium release from acidic compartments in NP-C lymphoblasts or fibroblasts, and showed that this could be recapitulated by treating RAW cells by 1 μM (but not 0.1 μM) sphingosine....
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...…sphingoid bases are other offending metabolite candidates in pathogenesis of NPC. Low concentrations of amphiphilic amines, e.g., imipramine, U18666A, but also sphinganine (Roff et al 1991) or sphingosine (Lloyd-Evans et al 2008) added to normal cell cultures, can elicit an "NPC phenotype"....
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...They found that the calcium defect (and sphingosine elevation) preceded alterations of glycosphingolipid trafficking and cholesterol storage, which led Platt's group to postulate that in NPC, sphingosine is the primary offending metabolite (Lloyd-Evans et al 2008)....
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