ArticleAnnual review of genomics and human genetics2014
Disorders of cholesterol metabolism and their unanticipated convergent mechanisms of disease.
Article in Annual review of genomics and human genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 53 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
53 citing papers in PubMed, 95 citations in OpenAlex.
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- Rapid Analysis of Sterols in Blood-Derived Samples.Methods in molecular biology (Clifton, N.J.) · 2025Article
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- FAK and p130Cas modulate stiffness-mediated early transcription and cellular metabolism.bioRxiv : the preprint server for biology · 2024Article
- The expanding boundaries of sphingolipid lysosomal storage diseases; insights from Niemann-Pick disease type C.Biochemical Society transactions · 2023Review
- The translational potential of cholesterol-based therapies for neurological disease.Nature reviews. Neurology · 2023Review
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- Role of Cholesterol and its Biosynthetic Precursors on Membrane Organization and Dynamics: A Fluorescence Approach.The Journal of membrane biology · 2023Article
- Smith-Lemli-Opitz syndrome: A pathophysiological manifestation of the Bloch hypothesis.Frontiers in molecular biosciences · 2023Review
- The Non Catalytic Protein ERG28 has a Functional Role in Cholesterol Synthesis and is Coregulated Transcriptionally.Journal of lipid research · 2022Article
- Functional expression of opioid receptors and other human GPCRs in yeast engineered to produce human sterols.Nature communications · 2022Article
Corrections and comments
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Authors and funding
7 authors at 4 institutions in 3 countries.
Funding
Abstract
Cholesterol plays a key role in many cellular processes, and is generated by cells through de novo biosynthesis or acquired from exogenous sources through the uptake of low-density lipoproteins. Cholesterol biosynthesis is a complex, multienzyme-catalyzed pathway involving a series of sequentially acting enzymes. Inherited defects in genes encoding cholesterol biosynthetic enzymes or other regulators of cholesterol homeostasis result in severe metabolic diseases, many of which are rare in the general population and currently without effective therapy. Historically, these diseases have been viewed as discrete disorders, each with its own genetic cause and distinct pathogenic cascades that lead to its specific clinical features. However, studies have recently shown that three of these diseases have an unanticipated mechanistic convergence. This surprising finding is not only shedding light on details of cellular cholesterol homeostasis but also suggesting novel approaches to therapy.
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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.