Defective cholesterol metabolism in amyotrophic lateral sclerosis patient-oriented and epidemiological

As neurons die, cholesterol is released in the central nervous system (CNS); hence, this sterol and its metabolites may represent a biomarker of neurodegeneration, including in amyotrophic lateral sclerosis (ALS), in which altered cholesterol levels have been linked to prognosis. P450; dehydrocholesterol; diHC, dihy droxycholesterol; LXR, liver X PLS, primary lateral sclerosis; 3  -HCA, 3  -hydroxycholest-5-en-26-oic acid; 3  ,7  -diHCA, 3  ,7  -dihydroxycholest-5-en-26-oic acid; 7O-C, 7-oxocholesterol; 7  -HC, 7  -hydroxycholesterol; 7  -HCO, 7  -hydroxycholest-4-en-3-one;  H,26-nor-C-3,24-diO,  -hydroxy-26- nor cholest-4-ene-3,24-dione;

[1]  P. Clayton,et al.  Sterols and oxysterols in plasma from Smith-Lemli-Opitz syndrome patients , 2017, The Journal of Steroid Biochemistry and Molecular Biology.

[2]  N. Grishin,et al.  Direct Demonstration That Loop1 of Scap Binds to Loop7 , 2016, The Journal of Biological Chemistry.

[3]  Eoin Fahy,et al.  Metabolomics Workbench: An international repository for metabolomics data and metadata, metabolite standards, protocols, tutorials and training, and analysis tools , 2015, Nucleic Acids Res..

[4]  J. Gustafsson.  Control of gene expression by novel metabolic intermediates , 2015, The Journal of Steroid Biochemistry and Molecular Biology.

[5]  W. Griffiths,et al.  Cholesterol metabolites exported from human brain , 2015, Steroids.

[6]  M. Turner,et al.  The longitudinal cerebrospinal fluid metabolomic profile of amyotrophic lateral sclerosis , 2015, Amyotrophic lateral sclerosis & frontotemporal degeneration.

[7]  P. Clayton,et al.  Quantitative charge-tags for sterol and oxysterol analysis. , 2015, Clinical chemistry.

[8]  P. Andersen,et al.  Cholesterol, Oxysterol, Triglyceride, and Coenzyme Q Homeostasis in ALS. Evidence against the Hypothesis That Elevated 27-Hydroxycholesterol Is a Pathogenic Factor , 2014, PloS one.

[9]  R. Schüle,et al.  Cholestenoic acids regulate motor neuron survival via liver X receptors. , 2014, The Journal of clinical investigation.

[10]  D. Russell,et al.  25-Hydroxycholesterol suppresses interleukin-1–driven inflammation downstream of type I interferon , 2014, Science.

[11]  C. Betsholtz,et al.  Effects of a Disrupted Blood-Brain Barrier on Cholesterol Homeostasis in the Brain* , 2014, The Journal of Biological Chemistry.

[12]  R. Evans,et al.  Nuclear Receptors, RXR, and the Big Bang , 2014, Cell.

[13]  Patrick Emond,et al.  Metabolomics in cerebrospinal fluid of patients with amyotrophic lateral sclerosis: an untargeted approach via high-resolution mass spectrometry. , 2013, Journal of proteome research.

[14]  William J Griffiths,et al.  Analytical strategies for characterization of oxysterol lipidomes: liver X receptor ligands in plasma. , 2013, Free radical biology & medicine.

[15]  Albert Ludolph,et al.  Mechanisms, models and biomarkers in amyotrophic lateral sclerosis , 2013, Amyotrophic lateral sclerosis & frontotemporal degeneration.

[16]  H. Shang,et al.  Statins and amyotrophic lateral sclerosis: a systematic review and meta-analysis , 2013, Amyotrophic lateral sclerosis & frontotemporal degeneration.

[17]  I. Björkhem.  Five decades with oxysterols. , 2013, Biochimie.

[18]  M. Turner,et al.  Inflammation and neurovascular changes in amyotrophic lateral sclerosis , 2013, Molecular and Cellular Neuroscience.

[19]  N. Javitt,et al.  27-Hydroxycholesterol, does it exist? On the nomenclature and stereochemistry of 26-hydroxylated sterols , 2012, Steroids.

[20]  Ewout J. N. Groen,et al.  Mapping of Gene Expression Reveals CYP27A1 as a Susceptibility Gene for Sporadic ALS , 2012, PloS one.

[21]  F. Pfrieger,et al.  Cholesterol metabolism in neurons and astrocytes. , 2011, Progress in lipid research.

[22]  L. Karlsson,et al.  Oxysterols direct B-cell migration through EBI2 , 2011, Nature.

[23]  P. Schultz,et al.  Oxysterols direct immune cell migration via EBI2 , 2011, Nature.

[24]  L. H. van den Berg,et al.  Beneficial vascular risk profile is associated with amyotrophic lateral sclerosis , 2011, Journal of Neurology, Neurosurgery & Psychiatry.

[25]  P. Andersen,et al.  Disease-Related Changes in the Cerebrospinal Fluid Metabolome in Amyotrophic Lateral Sclerosis Detected by GC/TOFMS , 2011, PloS one.

[26]  J. Kassubek,et al.  Patients with elevated triglyceride and cholesterol serum levels have a prolonged survival in amyotrophic lateral sclerosis , 2011, Journal of Neurology.

[27]  Patrick Emond,et al.  1H-NMR-Based Metabolomic Profiling of CSF in Early Amyotrophic Lateral Sclerosis , 2010, PloS one.

[28]  J. Gustafsson,et al.  Neuropathologic and Biochemical Changes During Disease Progression in Liver X Receptor &bgr;−/− Mice, A Model of Adult Neuron Disease , 2010, Journal of neuropathology and experimental neurology.

[29]  Alok Kumar,et al.  Metabolomic analysis of serum by (1) H NMR spectroscopy in amyotrophic lateral sclerosis. , 2010, Clinica chimica acta; international journal of clinical chemistry.

[30]  Andrew Lockhart,et al.  Cerebrospinal Fluid Steroidomics: Are Bioactive Bile Acids Present in Brain?* , 2009, The Journal of Biological Chemistry.

[31]  S. Ferdinandusse,et al.  Bile acids: the role of peroxisomes , 2009, Journal of Lipid Research.

[32]  D. Russell,et al.  Cholesterol 24-hydroxylase: an enzyme of cholesterol turnover in the brain. , 2009, Annual review of biochemistry.

[33]  V. Meininger,et al.  Dyslipidemia is a protective factor in amyotrophic lateral sclerosis , 2008, Neurology.

[34]  Joseph L. Goldstein,et al.  Sterol-regulated transport of SREBPs from endoplasmic reticulum to Golgi: Oxysterols block transport by binding to Insig , 2007, Proceedings of the National Academy of Sciences.

[35]  I. Björkhem.  Rediscovery of Cerebrosterol , 2007, Lipids.

[36]  P. Clayton,et al.  Disorders of bile acid synthesis , 2006, Journal of Inherited Metabolic Disease.

[37]  P. Tontonoz,et al.  Liver X receptors as integrators of metabolic and inflammatory signaling. , 2006, The Journal of clinical investigation.

[38]  Steve Meaney,et al.  Crossing the barrier: Published, JLR Papers in Press, March 1, 2005. DOI 10.1194/jlr.M500024-JLR200 net flux of 27-hydroxycholesterol into the human brain , 2005, Journal of Lipid Research.

[39]  C. Glass,et al.  A comprehensive classification system for lipids. , 2005, Journal of lipid research.

[40]  J. Gustafsson,et al.  Inactivation of liver X receptor beta leads to adult-onset motor neuron degeneration in male mice. , 2005, Proceedings of the National Academy of Sciences of the United States of America.

[41]  M. Eriksson,et al.  Patients with atherosclerosis may have increased circulating levels of 27‐hydroxycholesterol and cholestenoic acid , 2005, Scandinavian journal of clinical and laboratory investigation.

[42]  J. Dietschy,et al.  Thematic review series: Brain Lipids. Cholesterol metabolism in the central nervous system during early development and in the mature animal Published, JLR Papers in Press, May 16, 2004. DOI 10.1194/jlr.R400004-JLR200 , 2004, Journal of Lipid Research.

[43]  L. Wahlund,et al.  Diagnostic use of cerebral and extracerebral oxysterols , 2004, Clinical chemistry and laboratory medicine.

[44]  D. Russell.  The enzymes, regulation, and genetics of bile acid synthesis. , 2003, Annual review of biochemistry.

[45]  F. Violi,et al.  Measurement of oxysterols and alpha-tocopherol in plasma and tissue samples as indices of oxidant stress status. , 2003, Analytical biochemistry.

[46]  M. Mattson,et al.  Evidence that accumulation of ceramides and cholesterol esters mediates oxidative stress–induced death of motor neurons in amyotrophic lateral sclerosis , 2002, Annals of neurology.

[47]  L. Wahlund,et al.  Plasma levels of 24S-hydroxycholesterol in patients with neurological diseases , 2000, Neuroscience Letters.

[48]  E. Baulieu,et al.  Metabolism of 27-, 25- and 24-hydroxycholesterol in rat glial cells and neurons. , 1997, The Biochemical journal.

[49]  U. Diczfalusy,et al.  Determination of cholesterol oxidation products in human plasma by isotope dilution-mass spectrometry. , 1995, Analytical biochemistry.

[50]  A. Ludolph,et al.  Amyotrophic lateral sclerosis. , 2012, Current opinion in neurology.

[51]  W. Griffiths,et al.  The effect of 24S-hydroxycholesterol on cholesterol homeostasis in neurons: quantitative changes to the cortical neuron proteome. , 2008, Journal of proteome research.