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Lysosomal acid lipase deficiency impairs regulation of ABCA1 gene and formation of high density lipoproteins in cholesteryl ester storage disease.
J Biol Chem. 2011 Sep 2;286(35):30624-30635. doi: 10.1074/jbc.M111.274381. Epub 2011 Jul 10.
J Biol Chem. 2011.
PMID: 21757691
Free PMC article.
LAL (Lysosomal Acid Lipase) Promotes Reverse Cholesterol Transport In Vitro and In Vivo.
Bowden KL, Dubland JA, Chan T, Xu YH, Grabowski GA, Du H, Francis GA.
Bowden KL, et al.
Arterioscler Thromb Vasc Biol. 2018 May;38(5):1191-1201. doi: 10.1161/ATVBAHA.117.310507. Epub 2018 Mar 29.
Arterioscler Thromb Vasc Biol. 2018.
PMID: 29599133
Free PMC article.
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OSBP negatively regulates ABCA1 protein stability.
Bowden K, Ridgway ND.
Bowden K, et al.
J Biol Chem. 2008 Jun 27;283(26):18210-7. doi: 10.1074/jbc.M800918200. Epub 2008 May 1.
J Biol Chem. 2008.
PMID: 18450749
Free article.
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Treatment of Neurogenetic Developmental Conditions: From 2016 into the Future.
van Karnebeek CD, Bowden K, Berry-Kravis E.
van Karnebeek CD, et al.
Pediatr Neurol. 2016 Dec;65:1-13. doi: 10.1016/j.pediatrneurol.2016.07.010. Epub 2016 Jul 26.
Pediatr Neurol. 2016.
PMID: 27697313
Review.
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Deep brain stimulation and dantrolene for secondary dystonia in x-linked adrenoleukodystrophy.
van Karnebeek C, Horvath G, Murphy T, Purtzki J, Bowden K, Sirrs S, Honey CR, Stockler S.
van Karnebeek C, et al.
JIMD Rep. 2015;15:113-6. doi: 10.1007/8904_2014_305. Epub 2014 Apr 10.
JIMD Rep. 2015.
PMID: 24718842
Free PMC article.
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Treatable inborn errors of metabolism presenting as cerebral palsy mimics: systematic literature review.
Leach EL, Shevell M, Bowden K, Stockler-Ipsiroglu S, van Karnebeek CD.
Leach EL, et al.
Orphanet J Rare Dis. 2014 Nov 30;9:197. doi: 10.1186/s13023-014-0197-2.
Orphanet J Rare Dis. 2014.
PMID: 25433678
Free PMC article.
Review.
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