Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy.
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Metabolic Interplay between Peroxisomes and Other Subcellular Organelles Including Mitochondria and the Endoplasmic ReticulumPeroxisomes in brain development and functionThe sterol carrier protein 2/3-oxoacyl-CoA thiolase (SCPx) is involved in cholesterol uptake in the midgut of Spodoptera litura: gene cloning, expression, localization and functional analyses.Sterol carrier protein-x gene and effects of sterol carrier protein-2 inhibitors on lipid uptake in Manduca sexta.Inherited Paediatric Motor Neuron Disorders: Beyond Spinal Muscular Atrophy.Differences in the structure and dynamics of the apo- and palmitate-ligated forms of Aedes aegypti sterol carrier protein 2 (AeSCP-2).Fatty acid omega-oxidation as a rescue pathway for fatty acid oxidation disorders in humans.Biochemistry and genetics of inherited disorders of peroxisomal fatty acid metabolismDifferential diagnosis in patients with suspected bile acid synthesis defects.Loss of L-FABP, SCP-2/SCP-x, or both induces hepatic lipid accumulation in female miceIntracellular cholesterol-binding proteins enhance HDL-mediated cholesterol uptake in cultured primary mouse hepatocytes.Sterol carrier protein-2: new roles in regulating lipid rafts and signaling.Impact of SCP-2/SCP-x gene ablation and dietary cholesterol on hepatic lipid accumulation.Lipid signalling couples translational surveillance to systemic detoxification in Caenorhabditis elegans.SCP2 mutations and neurodegeneration with brain iron accumulation.On the complexity of clinical and molecular bases of neurodegeneration with brain iron accumulation.MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing.Perturbed rhythmic activation of signaling pathways in mice deficient for Sterol Carrier Protein 2-dependent diurnal lipid transport and metabolism.The important role of biochemical and functional studies in the diagnostics of peroxisomal disordersOverexpression of sterol carrier protein-2 differentially alters hepatic cholesterol accumulation in cholesterol-fed miceBile acids: the role of peroxisomes.Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelinesPeroxisomal Disorders: A Review on Cerebellar Pathologies.Sterol carrier protein 2 regulates proximal tubule size in the Xenopus pronephric kidney by modulating lipid rafts.Clinical and Laboratory Diagnosis of Peroxisomal Disorders.Intracellular cholesterol transport proteins enhance hydrolysis of HDL-CEs and facilitate elimination of cholesterol into bileSpecific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency.Ablating both Fabp1 and Scp2/Scpx (TKO) Induces Hepatic Phospholipid and Cholesterol Accumulation in High Fat-fed Mice.Sex-dependent impact of Scp-2/Scp-x gene ablation on hepatic phytol metabolism.Impact of dietary phytol on lipid metabolism in SCP2/SCPX/L-FABP null mice.3-ketopristanoyl-CoA + CoASH => 4;8;12-trimethyltridecanoyl-CoA + propionyl-CoAEffect of Lorenzo's Oil on Hepatic Gene Expression and the Serum Fatty Acid Level in abcd1-Deficient Mice.Peroxisome biogenesis disorders.
P2860
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P2860
Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy.
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2006 nî lūn-bûn
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2006 թուականի Մարտին հրատարակուած գիտական յօդուած
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2006 թվականի մարտին հրատարակված գիտական հոդված
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2006年の論文
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2006年論文
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2006年論文
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2006年論文
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2006年論文
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2006年論文
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2006年论文
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name
Mutations in the gene encoding ...... dystonia and motor neuropathy.
@ast
Mutations in the gene encoding ...... dystonia and motor neuropathy.
@en
type
label
Mutations in the gene encoding ...... dystonia and motor neuropathy.
@ast
Mutations in the gene encoding ...... dystonia and motor neuropathy.
@en
prefLabel
Mutations in the gene encoding ...... dystonia and motor neuropathy.
@ast
Mutations in the gene encoding ...... dystonia and motor neuropathy.
@en
P2093
P2860
P356
P1476
Mutations in the gene encoding ...... dystonia and motor neuropathy.
@en
P2093
Dillmann U
Ferdinandusse S
Kostopoulos P
Marziniak M
Overmars H
P2860
P304
P356
10.1086/503921
P407
P577
2006-03-29T00:00:00Z