Quantitative proteomics analysis of inborn errors of cholesterol synthesis: identification of altered metabolic pathways in DHCR7 and SC5D deficiency (Q33543669)

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English	Quantitative proteomics analysis of inborn errors of cholesterol synthesis: identification of altered metabolic pathways in DHCR7 and SC5D deficiency	scientific article

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scholarly article

1 reference

Europe PubMed Central

27 July 2017

Quantitative proteomics analysis of inborn errors of cholesterol synthesis: identification of altered metabolic pathways in DHCR7 and SC5D deficiency (English)

1 reference

Europe PubMed Central

27 July 2017

Christopher A Wassif

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Christopher A Wassif

3

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author name string

Xiao-Sheng Jiang

1

1 reference

Europe PubMed Central

27 July 2017

Peter S Backlund

2

1 reference

Europe PubMed Central

27 July 2017

Alfred L Yergey

4

1 reference

Europe PubMed Central

27 July 2017

Forbes D Porter

5

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Europe PubMed Central

27 July 2017

publication date

19 March 2010

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Europe PubMed Central

27 July 2017

Molecular & Cellular Proteomics

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Europe PubMed Central

27 July 2017

9

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Europe PubMed Central

27 July 2017

7

1 reference

Europe PubMed Central

27 July 2017

1461-1475

1 reference

Europe PubMed Central

27 July 2017

Activation of Rho GTPases in Smith-Lemli-Opitz syndrome: pathophysiological and clinical implications

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2938083

21 June 2018

SREBPs: protein interaction and SREBPs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2938083

21 June 2018

Regulation of retromer recruitment to endosomes by sequential action of Rab5 and Rab7.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2938083

21 June 2018

Neuronal cell death in neurodegenerative diseases: recurring themes around protein handling

1 reference

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21 June 2018

Signaling by the human serotonin(1A) receptor is impaired in cellular model of Smith-Lemli-Opitz Syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2938083

21 June 2018

Smith-Lemli-Opitz syndrome: pathogenesis, diagnosis and management

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2938083

21 June 2018

Oxidative stress and neurotoxicity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2938083

21 June 2018

Diverse roles of Rho family GTPases in neuronal development, survival, and death

1 reference

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21 June 2018

Regulation of sterol synthesis in eukaryotes.

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21 June 2018

Post-translational modifications and regulation of the RAS superfamily of GTPases as anticancer targets

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21 June 2018

Differential effects of cholesterol and 7-dehydrocholesterol on the ligand binding activity of the hippocampal serotonin(1A) receptor: implications in SLOS.

1 reference

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21 June 2018

Mevalonate pathway: a review of clinical and therapeutical implications

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21 June 2018

Rab cascades and tethering factors in the endomembrane system

1 reference

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21 June 2018

Repression of smoothened by patched-dependent (pro-)vitamin D3 secretion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2938083

21 June 2018

Defects of cholesterol biosynthesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2938083

21 June 2018

Cholesterol deficiency in a mouse model of Smith-Lemli-Opitz syndrome reveals increased mast cell responsiveness

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2938083

21 June 2018

Light-induced exacerbation of retinal degeneration in a rat model of Smith-Lemli-Opitz syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2938083

21 June 2018

Cerebral glucose metabolism in adults with early treated classic phenylketonuria

1 reference

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21 June 2018

Two-dimensional gel electrophoresis maps of the proteome and phosphoproteome of primitively cultured rat mesangial cells

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21 June 2018

Immunohistochemical and microarray analyses of a mouse model for the smith-lemli-opitz syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2938083

21 June 2018

Rab proteins, connecting transport and vesicle fusion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2938083

21 June 2018

Lipid hydroperoxide formation in the retina: correlation with retinal degeneration and light damage in a rat model of Smith-Lemli-Opitz syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2938083

21 June 2018

Rho proteins, mental retardation and the neurobiological basis of intelligence

1 reference

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21 June 2018

Neurodegenerative disorders associated with diabetes mellitus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2938083

21 June 2018

Molecular regulation of SREBP function: the Insig-SCAP connection and isoform-specific modulation of lipid synthesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2938083

21 June 2018

A statistical model for identifying proteins by tandem mass spectrometry

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2938083

21 June 2018

Human malformation syndromes due to inborn errors of cholesterol synthesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2938083

21 June 2018

Formation of 7-dehydrocholesterol-containing membrane rafts in vitro and in vivo, with relevance to the Smith-Lemli-Opitz syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2938083

21 June 2018

Combined analysis of oligonucleotide microarray data from transgenic and knockout mice identifies direct SREBP target genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2938083

21 June 2018

Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2938083

21 June 2018

Oxidative stress in neurodegenerative diseases: therapeutic implications for superoxide dismutase mimetics

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21 June 2018

A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis

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21 June 2018

Empirical statistical model to estimate the accuracy of peptide identifications made by MS/MS and database search

1 reference

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21 June 2018

Oxidative stress induced by phenylketonuria in the rat: Prevention by melatonin, vitamin E, and vitamin C.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2938083

21 June 2018

Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2938083

21 June 2018

Cholesterol storage defect in RSH/Smith-Lemli-Opitz syndrome fibroblasts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2938083

21 June 2018

The endocytic catalysts, Rab5a and Rab7, are tandem regulators of thyroid hormone production

1 reference

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21 June 2018

SREBPs: activators of the complete program of cholesterol and fatty acid synthesis in the liver

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2938083

21 June 2018

Caspase-dependent apoptotic pathways in CNS injury

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21 June 2018

Genetic disorders of cholesterol biosynthesis in mice and humans.

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21 June 2018

Sterol regulatory element-binding proteins induce an entire pathway of cholesterol synthesis

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21 June 2018

Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith--Lemli--Opitz syndrome

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21 June 2018

Regulation of ubiquinone metabolism

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2938083

21 June 2018

Neuronal cell death in Down's syndrome

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2938083

21 June 2018

Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2938083

21 June 2018

Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2938083

21 June 2018

Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome.

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21 June 2018

Low glucose metabolism during brain stimulation in older Down's syndrome subjects at risk for Alzheimer's disease prior to dementia.

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21 June 2018

Sequential actions of Rab5 and Rab7 regulate endocytosis in the Xenopus oocyte

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21 June 2018

Decline in glucose metabolism in the brain in neuronal ceroid lipofuscinosis (NCL) in English setter--evidence by positron emission tomography (PET).

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21 June 2018

Branch-point reactions in the biosynthesis of cholesterol, dolichol, ubiquinone and prenylated proteins

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21 June 2018

3-methylglutaconic acidemia in Smith-Lemli-Opitz syndrome

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21 June 2018

Identification and inhibition of the ICE/CED-3 protease necessary for mammalian apoptosis

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21 June 2018

Inhibition of human brain pyruvate kinase and hexokinase by phenylalanine and phenylpyruvate: possible relevance to phenylketonuric brain damage

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21 June 2018

The effects ofl-phenylalanine and phenylpyruvate on glycolysis in rat cerebral cortex

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21 June 2018

Apparent Smith-Lemli-Opitz syndrome in a child with a previously undescribed form of mucolipidosis not involving the neurons

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21 June 2018

A comparison of the behavior of cholesterol and selected derivatives in mixed sterol-phospholipid Langmuir monolayers: a fluorescence microscopy study

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21 January 2018

Cholesterol favors phase separation of sphingomyelin

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21 January 2018

A membrane defect in the pathogenesis of the Smith-Lemli-Opitz syndrome

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21 January 2018

Negative regulation of Hedgehog signaling by the cholesterogenic enzyme 7-dehydrocholesterol reductase

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21 January 2018

The cerebrocortical areas in normal brain aging and in Alzheimer's disease: noticeable differences in the lipid peroxidation level and in antioxidant defense

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21 January 2018

Oxidative stress in patients with phenylketonuria.

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21 January 2018

Experimental hyperphenylalaninemia provokes oxidative stress in rat brain.

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21 January 2018

Caspase-3 is a component of Fas death-inducing signaling complex in lipid rafts and its activity is required for complete caspase-8 activation during Fas-mediated cell death

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21 January 2018

Cerebral energy metabolism in phenylketonuria: findings by quantitative In vivo 31P MR spectroscopy

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21 January 2018

Feedback inhibition of the cholesterol biosynthetic pathway in patients with Smith-Lemli-Opitz syndrome as demonstrated by urinary mevalonate excretion

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21 January 2018

The cytoskeleton, cellular motility and the reductionist agenda.

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21 January 2018

The beta-amyloid protein of Alzheimer's disease increases neuronal CRMP-2 phosphorylation by a Rho-GTP mechanism

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21 January 2018

Compared effects of cholesterol and 7-dehydrocholesterol on sphingomyelin–glycerophospholipid bilayers studied by ESR

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21 January 2018

Cholesterol Precursors Stabilize Ordinary and Ceramide-rich Ordered Lipid Domains (Lipid Rafts) to Different Degrees

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21 January 2018

Abnormal sterols in cholesterol-deficiency diseases cause secretory granule malformation and decreased membrane curvature

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21 January 2018

Increased nonsterol isoprenoids, dolichol and ubiquinone, in the Smith-Lemli-Opitz syndrome: effects of dietary cholesterol

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21 January 2018

Active caspase-3 is required for osteoclast differentiation

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21 January 2018

Effects of aluminum and zinc on the oxidative stress caused by 6-hydroxydopamine autoxidation: relevance for the pathogenesis of Parkinson's disease.

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31 October 2018

Sterol balance in the Smith-Lemli-Opitz syndrome. Reduction in whole body cholesterol synthesis and normal bile acid production.

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31 October 2018

A method for reducing the time required to match protein sequences with tandem mass spectra

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12 December 2020

based on heuristic

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Substrate specificity of cis-prenyltransferase in rat liver microsomes

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https://pubmed.ncbi.nlm.nih.gov/20305089

12 December 2020

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Age-dependent changes in rat liver prenyltransferases

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https://pubmed.ncbi.nlm.nih.gov/20305089

12 December 2020

based on heuristic

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Improvement of an "In-Gel" digestion procedure for the micropreparation of internal protein fragments for amino acid sequencing

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https://pubmed.ncbi.nlm.nih.gov/20305089

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical phenotype of lathosterolosis

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https://pubmed.ncbi.nlm.nih.gov/20305089

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1074/MCP.M900548-MCP200

1 reference

Europe PubMed Central

27 July 2017

1 reference

Europe PubMed Central

27 July 2017

1 reference

Europe PubMed Central

27 July 2017

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