Disorders of cholesterol metabolism and their unanticipated convergent mechanisms of disease.
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Cites background from "Disorders of cholesterol metabolism..."
...Mutations in NPC1/2, causing Niemann-Pick disease, alter cholesterol trafficking and subsequent accumulation of free cholesterol in lysosomes (19, 22)....
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Cites background from "Disorders of cholesterol metabolism..."
...A Papandreou and P Gissen http://tan.sagepub.com 219 of acid sphingomyelinase (excluding NP-A and NP-B) and β-glucocerebrosidase (excluding GD), for NP-C to be further considered [McKay Bounford and Gissen, 2014]....
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...Moreover, an abnormal filipin test can also be encountered in heterozygote carriers and in a number of other disorders (including MEGDEL syndrome, Smith–Lemli– Opitz syndrome and Tangier disease), whereas a variant phenotype, suggestive of ‘possible NP-C’, can also be seen in patients with NP-A or NP-B [Vanier, 1997, 2010; Wortmann et al....
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...2011] and in other disorders, including NP-A and NP-B [Lin et al....
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...+/-, test might need to be considered; CGH, comparative genomic hybridization; DNA, deoxyribonucleic acid; GD, Gaucher disease; MLPA, multiplex ligation-dependent probe amplification; mRNA, messenger ribonucleic acid; NP-A, Niemann-Pick type A; NP-B, Niemann-Pick type B; NP-C, Niemann-Pick type C....
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...Plasma oxysterols are similarly elevated in NP-A, NP-B and NP-C [Lin et al....
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