ArticleAmerican journal of human genetics2008
Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration.
Article in American journal of human genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 87 papers.
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Who cites it
87 citing papers in PubMed, 184 citations in OpenAlex.
- Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial.Brain : a journal of neurology · 2017Trial
- Monitoring Atypical Metabolite Biomarkers in Patients with Bile Acid Synthesis Disorders by a Novel Targeted Tandem Mass Spectrometry Assay.Metabolites · 2026Article
- AAV8-based gene replacement therapy for hereditary spastic paraplegia type 5.Molecular therapy. Methods & clinical development · 2025Article
- Treatment of Inborn Errors by Product Replacement: The Example of Inborn Errors of Bile Acid Synthesis.Journal of inherited metabolic disease · 2025Review
- Spinal cord cross sign: a potential marker for hereditary spastic paraplegia type 5.Neuroradiology · 2025Observational
- Association of spinal cord structure with cognition in hereditary spastic paraplegia type 5.Frontiers in neurology · 2025Article
- Emerging Roles of Bile Acids and TGR5 in the Central Nervous System: Molecular Functions and Therapeutic Implications.International journal of molecular sciences · 2024Review
- ERLIN1/2 scaffolds bridge TMUB1 and RNF170 and restrict cholesterol esterification to regulate the secretory pathway.Life science alliance · 2024Article
- Pluripotent Stem Cells as a Preclinical Cellular Model for Studying Hereditary Spastic Paraplegias.International journal of molecular sciences · 2024Review
- Inhibition of 7α,26-dihydroxycholesterol biosynthesis promotes midbrain dopaminergic neuron development.iScience · 2024Article
- The Diagnostic Use of the Plasma Quantification of 24S-Hydroxycholesterol and Other Oxysterols in Neurodegenerative Disease.Advances in experimental medicine and biology · 2024Article
- Article
- AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model.Acta neuropathologica · 2023Article
- Chenodeoxycholic acid rescues axonal degeneration in induced pluripotent stem cell-derived neurons from spastic paraplegia type 5 and cerebrotendinous xanthomatosis patients.Orphanet journal of rare diseases · 2023Article
- TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia.Brain : a journal of neurology · 2022Article
- SPG15 protein deficits are at the crossroads between lysosomal abnormalities, altered lipid metabolism and synaptic dysfunction.Human molecular genetics · 2022Article
- White Matter Alterations in Spastic Paraplegia Type 5: A Multiparametric Structural MRI Study and Correlations with Biochemical Measurements.AJNR. American journal of neuroradiology · 2022Article
- Exploring the eukaryotic Yip and REEP/Yop superfamily of membrane-shaping adapter proteins (MSAPs): A cacophony or harmony of structure and function?Frontiers in molecular biosciences · 2022Review
- Associations of CYP2B6 genetic polymorphisms with Hirschsprung's disease in a southern Chinese population.Journal of clinical laboratory analysis · 2021Article
- Successful treatment of infantile oxysterol 7α-hydroxylase deficiency with oral chenodeoxycholic acid.BMC gastroenterology · 2021Article
27 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
15 authors at 7 institutions in 4 countries.
Funding
Abstract
The hereditary spastic paraplegias (HSPs) are a genetically and clinically heterogeneous group of upper-motor-neuron degenerative diseases characterized by selective axonal loss in the corticospinal tracts and dorsal columns. Although numerous mechanisms involving defective subcellular transportation, mitochondrial malfunction, and increased oxidative stress have been proposed, the pathogenic basis underlying the neuronal loss is unknown. We have performed linkage analysis to refine the extent of the SPG5 disease locus and conducted sequence analysis of the genes located within this region. This identified sequence alterations in the cytochrome P450-7B1 (CYP7B1) associated with this pure form of HSP. In the liver, CYP7B1 offers an alternative pathway for cholesterol degradation and also provides the primary metabolic route for the modification of dehydroepiandrosterone neurosteroids in the brain. These findings provide the first direct evidence of a pivotal role of altered cholesterol metabolism in the pathogenesis of motor-neuron degenerative disease and identify a potential for therapeutic intervention in this form of HSP.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.