Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration
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Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosologyClinical and Paraclinical Indicators of Motor System Impairment in Hereditary Spastic Paraplegia: A Pilot StudyCYP7B1: one cytochrome P450, two human genetic diseases, and multiple physiological functionsIs the gene-environment interaction paradigm relevant to genome-wide studies? The case of education and body mass index.Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.Marked accumulation of 27-hydroxycholesterol in SPG5 patients with hereditary spastic paresis.Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients.Genetic connections between neurological disorders and cholesterol metabolismNovel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafishAlteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia.Clinical and genetic diversity of SMN1-negative proximal spinal muscular atrophiesStructural and dynamic basis of human cytochrome P450 7B1: a survey of substrate selectivity and major active site access channels.Cholesterol in brain disease: sometimes determinant and frequently implicated.Marked accumulation of 27-hydroxycholesterol in the brains of Alzheimer's patients with the Swedish APP 670/671 mutationInteraction of the SPG21 protein ACP33/maspardin with the aldehyde dehydrogenase ALDH16A1.The interaction between metabolism, cancer and cardiovascular disease, connected by 27-hydroxycholesterol.Ethnic differences in the prevalence of polymorphisms in CYP7A1, CYP7B1 AND CYP27A1 enzymes involved in cholesterol metabolism.An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia.KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutationsSample prefractionation for mass spectrometry quantification of low-abundance membrane proteins.Re-adopting classical nuclear receptors by cholesterol metabolites.Human cytochromes P450 in health and diseaseCytochromes p450: roles in diseasesDefective autophagy in spastizin mutated patients with hereditary spastic paraparesis type 15Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54).A(a)LS: Ammonia-induced amyotrophic lateral sclerosis.A blood test for cerebrotendinous xanthomatosis with potential for disease detection in newborns.Systematic review of autosomal recessive ataxias and proposal for a classification.25-Hydroxycholesterol is involved in the pathogenesis of amyotrophic lateral sclerosis.Hereditary spastic paraplegias: membrane traffic and the motor pathway.Disorders of bile acid synthesis.Cellular pathways of hereditary spastic paraplegia.The clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview.Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force.Overcoming the divide between ataxias and spastic paraplegias: Shared phenotypes, genes, and pathways.Identification of Novel Mutations in Spatacsin and Apolipoprotein B Genes in a Patient with Spastic Paraplegia and Hypobetalipoproteinemia.Somatosensory conduction pathway in spastic paraplegia type 5.Liver and the defects of cholesterol and bile acids biosynthesis: Rare disorders many diagnostic pitfalls.A new Thematic Series: genetics of human lipid diseases.Targeted disruption of the Mast syndrome gene SPG21 in mice impairs hind limb function and alters axon branching in cultured cortical neurons.
P2860
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P2860
Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration
description
2008 nî lūn-bûn
@nan
2008 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
Sequence alterations within CY ...... s in motor-neuron degeneration
@ast
Sequence alterations within CY ...... s in motor-neuron degeneration
@en
Sequence alterations within CY ...... s in motor-neuron degeneration
@en-gb
Sequence alterations within CY ...... s in motor-neuron degeneration
@nl
type
label
Sequence alterations within CY ...... s in motor-neuron degeneration
@ast
Sequence alterations within CY ...... s in motor-neuron degeneration
@en
Sequence alterations within CY ...... s in motor-neuron degeneration
@en-gb
Sequence alterations within CY ...... s in motor-neuron degeneration
@nl
prefLabel
Sequence alterations within CY ...... s in motor-neuron degeneration
@ast
Sequence alterations within CY ...... s in motor-neuron degeneration
@en
Sequence alterations within CY ...... s in motor-neuron degeneration
@en-gb
Sequence alterations within CY ...... s in motor-neuron degeneration
@nl
P2093
P2860
P3181
P1476
Sequence alterations within CY ...... s in motor-neuron degeneration
@en
P2093
Afif Hentati
Andrew H Crosby
Faycal Hentati
Heema Patel
Karim Ouahchi
Maria K Tsaousidou
Michael A Patton
Nigel G Laing
Philip A Wilkinson
Philippa J Lamont
P2860
P3181
P356
10.1016/J.AJHG.2007.10.001
P407
P577
2008-02-01T00:00:00Z