Sterol metabolism disorders and neurodevelopment-an update.
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Perinatal manifestation of mevalonate kinase deficiency and efficacy of anakinraThe Effect of Small Molecules on Sterol Homeostasis: Measuring 7-Dehydrocholesterol in Dhcr7-Deficient Neuro2a Cells and Human FibroblastsCholesterol in brain disease: sometimes determinant and frequently implicated.SREBP-2-deficient and hypomorphic mice reveal roles for SREBP-2 in embryonic development and SREBP-1c expression.Accumulation of specific sterol precursors targets a MAP kinase cascade mediating cell-cell recognition and fusionMeCP2 co-ordinates liver lipid metabolism with the NCoR1/HDAC3 corepressor complex.Remodeling of the postsynaptic plasma membrane during neural development.Mutation of 3-hydroxy-3-methylglutaryl CoA synthase I reveals requirements for isoprenoid and cholesterol synthesis in oligodendrocyte migration arrest, axon wrapping, and myelin gene expression.Probes for protein adduction in cholesterol biosynthesis disorders: Alkynyl lanosterol as a viable sterol precursor.Malformation syndromes associated with disorders of sex development.Neuroprotective effects of estrogens: the role of cholesterol.Differences in testosterone and its precursors by sex of the offspring in meconium.Structural Stringency of Cholesterol for Membrane Protein Function Utilizing Stereoisomers as Novel Tools: A Review.Intracranial undifferentiated malign neuroglial tumor in Smith-Lemli-Opitz syndrome: A theory of a possible predisposing factor for primary brain tumors via a case report.Central Nervous System Demyelination and Remyelination is Independent from Systemic Cholesterol Level in Theiler's Murine Encephalomyelitis.Liver and the defects of cholesterol and bile acids biosynthesis: Rare disorders many diagnostic pitfalls.Introduction: Neurodevelopmental issues in inborn errors of metabolism.Vulnerability of DHCR7+/- mutation carriers to aripiprazole and trazodone exposure.Concurrent Chondrodysplasia Punctata Type 2 (Conradi-Hunermann-Happle Syndrome) and Ichthyosis Vulgaris in Teenaged Twin Girls.Liver transplantation in defects of cholesterol biosynthesis: the case of lathosterolosis.Adult presentation of X-linked Conradi-Hünermann-Happle syndrome.Physiology and Pathophysiology of Steroid Biosynthesis, Transport and Metabolism in the Human Placenta
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P2860
Sterol metabolism disorders and neurodevelopment-an update.
description
article científic
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article scientifique
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articol științific
@ro
articolo scientifico
@it
artigo científico
@gl
artigo científico
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artigo científico
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artikel ilmiah
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artikull shkencor
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artículo científico
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name
Sterol metabolism disorders and neurodevelopment-an update.
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type
label
Sterol metabolism disorders and neurodevelopment-an update.
@en
prefLabel
Sterol metabolism disorders and neurodevelopment-an update.
@en
P2093
P2860
P356
P1476
Sterol metabolism disorders and neurodevelopment-an update
@en
P2093
Neelkamal Soares
Shibani Kanungo
P2860
P304
P356
10.1002/DDRR.1114
P577
2013-01-01T00:00:00Z