Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegia.
about
The spectrum of KIAA0196 variants, and characterization of a murine knockout: implications for the mutational mechanism in hereditary spastic paraplegia type SPG8.CYP7B1: one cytochrome P450, two human genetic diseases, and multiple physiological functionsMarked 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 metabolismA total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42).The interaction between metabolism, cancer and cardiovascular disease, connected by 27-hydroxycholesterol.Re-adopting classical nuclear receptors by cholesterol metabolites.Cytochromes p450: roles in diseasesDisorders of bile acid synthesis.Central motor conduction studies in patients with spinal cord disorders: a review.Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients.Liver and the defects of cholesterol and bile acids biosynthesis: Rare disorders many diagnostic pitfalls.Side chain-oxidized oxysterols regulate the brain renin-angiotensin system through a liver X receptor-dependent mechanismHereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial.Defective CYP7B1 does not 7-hydroxylate 25OH-CHOLClinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations.Clinical spectrum and genetic landscape for hereditary spastic paraplegias in China.Human steroid and oxysterol 7α-hydroxylase CYP7B1: substrate specificity, azole binding and misfolding of clinically relevant mutants
P2860
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P2860
Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegia.
description
2008 nî lūn-bûn
@nan
2008年の論文
@ja
2008年学术文章
@wuu
2008年学术文章
@zh
2008年学术文章
@zh-cn
2008年学术文章
@zh-hans
2008年学术文章
@zh-my
2008年学术文章
@zh-sg
2008年學術文章
@yue
2008年學術文章
@zh-hant
name
Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegia.
@en
Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegia.
@nl
type
label
Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegia.
@en
Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegia.
@nl
prefLabel
Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegia.
@en
Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegia.
@nl
P2093
P50
P1433
P1476
Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegia.
@en
P2093
Andrew H Crosby
Christian A Hübner
Elisabeth Brandt
Kathrin N Karle
Maria Tsaousidou
Michaela Auer-Grumbach
Stephan Klebe
Sven Klimpe
P2860
P2888
P304
P356
10.1007/S10048-008-0158-9
P577
2008-10-15T00:00:00Z