Marked accumulation of 27-hydroxycholesterol in SPG5 patients with hereditary spastic paresis. - Wikidata - awgldk - TriplyDB

Marked accumulation of 27-hydroxycholesterol in SPG5 patients with hereditary spastic paresis.

Marked accumulation of 27-hydroxycholesterol in SPG5 patients with hereditary spastic paresis.

http://www.wikidata.org/entity/Q33741241

about

Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology Sulphatation does not appear to be a protective mechanism to prevent oxysterol accumulation in humans and mice Lipid anti-lipid antibody responses correlate with disease activity in systemic lupus erythematosus Genetic connections between neurological disorders and cholesterol metabolism The endogenous selective estrogen receptor modulator 27-hydroxycholesterol is a negative regulator of bone homeostasis.Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia.Cholesterol in brain disease: sometimes determinant and frequently implicated.27-Hydroxycholesterol: the first identified endogenous SERM Marked accumulation of 27-hydroxycholesterol in the brains of Alzheimer's patients with the Swedish APP 670/671 mutation Cholestenoic acids regulate motor neuron survival via liver X receptors.Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia Hydroxycholesterol Levels in the Serum and Cerebrospinal Fluid of Patients with Neuromyelitis Optica Revealed by LC-Ag+CIS/MS/MS and LC-ESI/MS/MS with Picolinic Derivatization: Increased Levels and Association with Disability during Acute Attack.Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia.Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54).De novo synthesis of steroids and oxysterols in adipocytes Cellular pathways of hereditary spastic paraplegia.Oxidized LDL lipids increase β-amyloid production by SH-SY5Y cells through glutathione depletion and lipid raft formation.Functional mutation analysis provides evidence for a role of REEP1 in lipid droplet biology.Overcoming the divide between ataxias and spastic paraplegias: Shared phenotypes, genes, and pathways.25-Hydroxycholesterol regulates cholesterol homeostasis in the murine CATH.a neuronal cell line.Evidence for altered cholesterol metabolism in Huntington's disease post mortem brain tissue.Somatosensory conduction pathway in spastic paraplegia type 5.The EBI2 signalling pathway plays a role in cellular crosstalk between astrocytes and macrophages.Side chain-oxidized oxysterols regulate the brain renin-angiotensin system through a liver X receptor-dependent mechanism CYP7B1: novel mutations and magnetic resonance spectroscopy abnormalities in hereditary spastic paraplegia type 5A.EBI2 receptor regulates myelin development and inhibits LPC-induced demyelination.Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial.Plasma oxysterols: biomarkers for diagnosis and treatment in spastic paraplegia type 5.27-Hydroxycholesterol stimulates cell proliferation and resistance to docetaxel-induced apoptosis in prostate epithelial cells.Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations.

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P2860

Marked accumulation of 27-hydroxycholesterol in SPG5 patients with hereditary spastic paresis.

http://www.wikidata.org/entity/Q33741241

description

2009 nî lūn-bûn

@nan

2009 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2009 թվականի հոտեմբերին հրատարակված գիտական հոդված

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2009年の論文

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2009年論文

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2009年論文

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2009年論文

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2009年論文

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2009年論文

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2009年论文

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name

Marked accumulation of 27-hydr ...... th hereditary spastic paresis.

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Marked accumulation of 27-hydr ...... th hereditary spastic paresis.

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Marked accumulation of 27-hydr ...... th hereditary spastic paresis.

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Marked accumulation of 27-hydr ...... th hereditary spastic paresis.

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Marked accumulation of 27-hydr ...... th hereditary spastic paresis.

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Marked accumulation of 27-hydr ...... th hereditary spastic paresis.

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Journal of Lipid Research

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Marked accumulation of 27-hydr ...... th hereditary spastic paresis.

@en

P2093

Han-Xiang Deng

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Magnus Hansson

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Nailah Siddique

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Ricardo E Madrid

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Sandra Donkervoort

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Teepu Siddique

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Yi Yang

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P2860

Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration

Identification of a new inborn error in bile acid synthesis: mutation of the oxysterol 7alpha-hydroxylase gene causes severe neonatal liver disease

Cholesterol 24-hydroxylase: an enzyme of cholesterol turnover in the brain

The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis

The enzymes, regulation, and genetics of bile acid synthesis

Human sterol 27-hydroxylase (CYP27) overexpressor transgenic mouse model. Evidence against 27-hydroxycholesterol as a critical regulator of cholesterol homeostasis

CYP7B1: one cytochrome P450, two human genetic diseases, and multiple physiological functions

Oxysterols: modulators of cholesterol metabolism and other processes.

Disruption of the oxysterol 7alpha-hydroxylase gene in mice.

Oxysterols: friends, foes, or just fellow passengers?

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10.1194/JLR.M002543

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4

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51

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Rebecca Schüle

Ingemar Björkhem

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2009-10-07T00:00:00Z

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19812052

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2842155

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