Reddy JK, Hashimoto T. Peroxisomal beta-oxidation and peroxisome proliferator-activated receptor alpha: an adaptive metabolic system. Ann Rev Nutr. 2001;21:193–230.
Waterham HR, Ferdinandusse S, Wanders RJA. Human disorders of peroxisome metabolism and biogenesis. BBA-Mol Cell Res. 2016;1863:922–33.
Ferdinandusse S, Kostopoulos P, Denis S, Rusch H, Overmars H, Dillmann U, Reith W, Haas D, Wanders RJA, Duran M, Marziniak M. Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy. Am J Hum Genet. 2006;78:1046–52.
CAS PubMed PubMed Central Article Google Scholar
Horvath R, Lewis-Smith D, Douroudis K, Duff J, Keogh M, Pyle A, Fletcher N, Chinnery PF. SCP2 mutations and neurodegeneration with brain iron accumulation. Neurology. 2015;85:1909–11.
PubMed PubMed Central Article Google Scholar
Li NC, Fan JJ, Papadopoulos V. Sterol carrier protein-2, a nonspecific lipid-transfer protein, in intracellular cholesterol trafficking in testicular Leydig cells. PLoS ONE. 2016;11:e0149728.
PubMed PubMed Central Article CAS Google Scholar
Gallegos AM, Atshaves BP, Storey SM, McIntosh AL, Petrescu AD, Schroeder F. Sterol carrier protein-2 expression alters plasma membrane lipid distribution and cholesterol dynamics. Biochemistry. 2001;40:6493–506.
CAS PubMed Article Google Scholar
Puglielli L, Rigotti A, Greco AV, Santos MJ, Nervi F. Sterol carrier protein-2 is invovled in cholesterol transfer from the endoplasmic-reticulum to the plasma membrane in human fibrobalsts. J Biol Chem. 1995;270:18723–6.
CAS PubMed Article Google Scholar
Gadella TWJ, Wirtz KWA. The low-affinity lipid-binding site of the nonspecific lipid transfer protein: implications for its mode of action. Biochem Biophys Acta. 1991;1070:237–45.
CAS PubMed Article Google Scholar
Schroeder F, Myerspayne SC, Billheimer JT, Wood WG. Probing the ligand-binding sites of fatty acid and sterol carrier proteins: effects of ethanol. Biochemistry. 1995;34:11919–27.
CAS PubMed Article Google Scholar
Stolowich NJ, Frolov A, Atshaves B, Murphy EJ, Jolly CA, Billheimer JT, Scott AI, Schroeder F. The sterol carrier protein-2 fatty acid binding site: An NMR, circular dichroic, and fluorescence spectroscopic determination. Biochemistry. 1997;36:1719–29.
CAS PubMed Article Google Scholar
Frolov A, Miller K, Billheimer JT, Cho TH, Schroeder F. Lipid specificity and location of the sterol carrier protein-2 fatty acid-binding site: A fluorescence displacement and energy transfer study. Lipids. 1997;32:1201–9.
CAS PubMed Article Google Scholar
Gallegos AM, Atshaves BP, Storey SM, Starodub O, Petrescu AD, Huang H, McIntosh AL, Martin GG, Chao H, Kier AB, Schroeder F. Gene structure, intracellular localization, and functional roles of sterol carrier protein-2. Prog Lipid Res. 2001;40:498–563.
CAS PubMed Article Google Scholar
Seedorf U, Raabe M, Ellinghaus P, Kannenberg F, Fobker M, Engel T, Denis S, Wouters F, Wirtz KWA, Wanders RJA, et al. Defective peroxisomal catabolism of branched fatty acyl coenzyme A in mice lacking the sterol carrier protein-2 sterol carrier protein-x gene function. Genes Dev. 1998;12:1189–201.
CAS PubMed PubMed Central Article Google Scholar
Frolov A, Cho TH, Billheimer JT, Schroeder F. Sterol carrier protein-2, a new fatty acyl coenzyme a-binding protein. J Biol Chem. 1996;271:31878–84.
CAS PubMed Article Google Scholar
Schroeder F, Atshaves BP, McIntosh AL, Gallegos AM, Storey SM, Parr RD, Jefferson JR, Ball JM, Kier AB. Sterol carrier protein-2: new roles in regulating lipid rafts and signaling. BBA-Mol Cell Biol L. 2007;1771:700–18.
Keller GA, Scallen TJ, Clarke D, Maher PA, Krisans SK, Singer SJ. Subcellular-localizations of steroi carrier protein-2 in rat hepatocytes: its primary localization to peroxisomes. J Cell Biol. 1989;108:1353–61.
CAS PubMed Article Google Scholar
Nordgren M, Wang B, Apanasets O, Fransen M. Peroxisome degradation in mammals: mechanisms of action, recent advances, and perspectives. Front Physiol. 2013;4:145.
PubMed PubMed Central Article Google Scholar
Bougarne N, Weyers B, Desmet SJ, Deckers J, Ray DW, Staels B, De Bosscher K. Molecular actions of PPARα in lipid metabolism and inflammation. Endocr Rev. 2018;39:760–802.
Ellinghaus P, Wolfrum C, Assmann G, Spener F, Seedorf U. Phytanic acid activates the peroxisome proliferator-activated receptor alpha (PPARalpha) in sterol carrier protein 2-/ sterol carrier protein x-deficient mice. J Biol Chem. 1999;274:2766–72.
CAS PubMed Article Google Scholar
Chiang JY. Bile acids: regulation of synthesis. J Lipid Res. 2009;50:1955–66.
CAS PubMed PubMed Central Article Google Scholar
Yunfeng C, Zhonglian L, Erpeng Z, Ju Z, Naiqiang C. Increased bile lithogenicity by SCP2 via HMGCR and CYP7A1 regulation in human hepatocytes. Turk J Gastroenterol. 2013;24:241–50.
Miller WL. Steroidogenic acute regulatory protein (StAR), a novel mitochondrial cholesterol transporter. Biochim Biophys Acta. 2007;1771:663–76.
CAS PubMed Article Google Scholar
Alessenko AV, Albi E. Exploring sphingolipid implications in neurodegeneration. Front Neurol. 2020;11:437.
PubMed PubMed Central Article Google Scholar
Taniguchi M, Okazaki T. Ceramide/sphingomyelin rheostat regulated by sphingomyelin synthases and chronic diseases in murine models. J Lipid Atheroscler. 2020;9:380–405.
CAS PubMed PubMed Central Article Google Scholar
Rosenson RS. Fenofibrate: treatment of hyperlipidemia and beyond. Expert Rev Cardiovasc Ther. 2008;6:1319–30.
CAS PubMed Article Google Scholar
Dansen TB, Kops GJ, Denis S, Jelluma N, Wanders RJ, Bos JL, Burgering BM, Wirtz KW. Regulation of sterol carrier protein gene expression by the forkhead transcription factor FOXO3a. J Lipid Res. 2004;45:81–8.
CAS PubMed Article Google Scholar
Howaldt A, Hennig AF, Rolvien T, Rössler U, Stelzer N, Knaus A, Böttger S, Zustin J, Geißler S, Oheim R, et al. Adult osteosclerotic metaphyseal dysplasia with progressive osteonecrosis of the jaws and abnormal bone resorption pattern due to a LRRK1 splice site mutation. J Bone Miner Res. 2020;35:1322–32.
CAS PubMed Article Google Scholar
Nishimura G, Kozlowski K. Osteosclerotic metaphyseal dysplasia. Pediatr Radiol. 1993;23:450–2.
CAS PubMed Article Google Scholar
Schulte EC, Ellwanger DC, Dihanich S, Manzoni C, Stangl K, Schormair B, Graf E, Eck S, Mollenhauer B, Haubenberger D, et al. Rare variants in LRRK1 and Parkinson’s disease. Neurogenetics. 2014;15:49–57.
CAS PubMed Article Google Scholar
Blomqvist M, Smeland MF, Lindgren J, Sikora P, Riise Stensland HMF, Asin-Cayuela J. β-Mannosidosis caused by a novel homozygous intragenic inverted duplication in. Cold Spring Harb Mol Case Stud. 2019;5:a003954.
CAS PubMed PubMed Central Article Google Scholar
Safka Brozkova D, Varga L, Uhrova Meszarosova A, Slobodova Z, Skopkova M, Soltysova A, Ficek A, Jencik J, Lastuvkova J, Gasperikova D, Seeman P. Variant c.2158–2A>G in MANBA is an important and frequent cause of hereditary hearing loss and beta-mannosidosis among the Czech and Slovak Roma population- evidence for a new ethnic-specific variant. Orphanet J Rare Dis. 2020;15:222.
PubMed PubMed Central Article Google Scholar
Scheinman SJ, Guay-Woodford LM, Thakker RV, Warnock DG. Genetic disorders of renal electrolyte transport. N Engl J Med. 1999;340:1177–87.
CAS PubMed Article Google Scholar
Scheinman SJ. X-linked hypercalciuric nephrolithiasis: clinical syndromes and chloride channel mutations. Kidney Int. 1998;53:3–17.
CAS PubMed Article Google Scholar
Lloyd SE, Pearce SH, Fisher SE, Steinmeyer K, Schwappach B, Scheinman SJ, Harding B, Bolino A, Devoto M, Goodyer P, et al. A common molecular basis for three inherited kidney stone diseases. Nature. 1996;379:445–9.
CAS PubMed Article Google Scholar
Boerman RH, Ophoff RA, Links TP, van Eijk R, Sandkuijl LA, Elbaz A, Vale-Santos JE, Wintzen AR, van Deutekom JC, Isles DE. Mutation in DHP receptor alpha 1 subunit (CACLN1A3) gene in a Dutch family with hypokalaemic periodic paralysis. J Med Genet. 1995;32:44–7.
CAS PubMed PubMed Central Article Google Scholar
Buruma OJ, Bots GT, Went LN. Familial hypokalemic periodic paralysis: 50-year follow-up of a large family. Arch Neurol. 1985;42:28–31.
CAS PubMed Article Google Scholar
Miller TM, Dias da Silva MR, Miller HA, Kwiecinski H, Mendell JR, Tawil R, McManis P, Griggs RC, Angelini C, Servidei S, et al. Correlating phenotype and genotype in the periodic paralyses. Neurology. 2004;63:1647–55.
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