Sequence Alterations within CYP7B1 Implicate Defective Cholesterol Homeostasis in Motor-Neuron Degeneration-Reference-Cited by-同舟云学术

Sequence Alterations within CYP7B1 Implicate Defective Cholesterol Homeostasis in Motor-Neuron Degeneration

Published:2008-02 Issue:2 Volume:82 Page:510-515
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Tsaousidou Maria K.,Ouahchi Karim,Warner Tom T.,Yang Yi,Simpson Michael A.,Laing Nigel G.,Wilkinson Philip A.,Madrid Ricardo E.,Patel Heema,Hentati Faycal,Patton Michael A.,Hentati Afif,Lamont Philippa J.,Siddique Teepu,Crosby Andrew H.

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference35 articles.

1. Hereditary spastic paraplegia;Fink;Curr. Neurol. Neurosci. Rep.,2006

2. Classification of the hereditary ataxias and paraplegias;Harding;Lancet,1983

3. Molecular basis of inherited spastic paraplegias;Casari;Curr. Opin. Genet. Dev.,2001

4. Linkage of ‘pure’ autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity;Hentati;Hum. Mol. Genet.,1994

5. Spastic paraplegia 5: Locus refinement, candidate gene analysis and clinical description;Klebe;Am. J. Med. Genet. B. Neuropsychiatr. Genet.,2007

Cited by 161 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Emerging Roles of Bile Acids and TGR5 in the Central Nervous System: Molecular Functions and Therapeutic Implications;International Journal of Molecular Sciences;2024-08-27

2. ERLIN1/2 scaffolds bridge TMUB1 and RNF170 and restrict cholesterol esterification to regulate the secretory pathway;Life Science Alliance;2024-05-23

3. Pluripotent Stem Cells as a Preclinical Cellular Model for Studying Hereditary Spastic Paraplegias;International Journal of Molecular Sciences;2024-02-23

4. ERLIN1/2 scaffolds bridge TMUB1 and RNF170 and restrict cholesterol esterification to regulate the secretory pathway;2024-01-18

5. Inhibition of 7α,26-dihydroxycholesterol biosynthesis promotes midbrain dopaminergic neuron development;iScience;2024-01