ArticleMolecular biology reports2012
Characterization of splice variants of the genes encoding human mitochondrial HMG-CoA lyase and HMG-CoA synthase, the main enzymes of the ketogenesis pathway.
Article in Molecular biology reports, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 32 citations in OpenAlex.
- Treatment of HMG-CoA Lyase Deficiency-Longitudinal Data on Clinical and Nutritional Management of 10 Australian Cases.Nutrients · 2023Review
- Nutrition, metabolism, and epigenetics: pathways of circadian reprogramming.EMBO reports · 2022Review
- Novel protein from larval sponge cells, ilborin, is related to energy turnover and calcium binding and is conserved among marine invertebrates.Open biology · 2022Article
- SGLT2 Inhibitors and Ketone Metabolism in Heart Failure.Journal of lipid and atherosclerosis · 2022Article
- Potentially functional genetic variants in PLIN2, SULT2A1 and UGT1A9 genes of the ketone pathway and survival of nonsmall cell lung cancer.International journal of cancer · 2020Article
- 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: one disease - many faces.Orphanet journal of rare diseases · 2020Article
- More Than One HMG-CoA Lyase: The Classical Mitochondrial Enzyme Plus the Peroxisomal and the Cytosolic Ones.International journal of molecular sciences · 2019Review
- The specific molecular architecture of plant 3-hydroxy-3-methylglutaryl-CoA lyase.The Journal of biological chemistry · 2019Article
- [Mitochondrial 3-hydroxy-3-methylglutaryl CoA synthase deficiency: a case report and literature review].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2018Review
- Neuroketotherapeutics: A modern review of a century-old therapy.Neurochemistry international · 2018Review
- Article
- Role of Sex Hormones on Brain Mitochondrial Function, with Special Reference to Aging and Neurodegenerative Diseases.Frontiers in aging neuroscience · 2017Review
- β-Hydroxybutyrate in the Brain: One Molecule, Multiple Mechanisms.Neurochemical research · 2017Review
- 3-Hydroxy-3-methylglutaric aciduria with bilateral basal ganglia lesion: A case report.Experimental and therapeutic medicine · 2016Article
- Icariin is a PPARα activator inducing lipid metabolic gene expression in mice.Molecules (Basel, Switzerland) · 2014Article
- Metabolic biology of 3-methylglutaconic acid-uria: a new perspective.Journal of inherited metabolic disease · 2014Review
- Article
- Fatty acid transport protein 1 (FATP1) localizes in mitochondria in mouse skeletal muscle and regulates lipid and ketone body disposal.PloS one · 2014Article
- Quantitative proteomics reveals that enzymes of the ketogenic pathway are associated with prostate cancer progression.Molecular & cellular proteomics : MCP · 2013Article
- Article
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15 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The genes HMGCS2 and HMGCL encode the two main enzymes for ketone-body synthesis, mitochondrial HMG-CoA synthase and HMG-CoA lyase. Here, we identify and describe possible splice variants of these genes in human tissues. We detected an alternative transcript of HMGCS2 carrying a deletion of exon 4, and two alternative transcripts of HMGCL with deletions of exons 5 and 6, and exons 5, 6 and 7, respectively. All splice variants maintained the reading frame. However, Western blot studies and overexpression measurements in eukaryotic or prokaryotic cell models did not reveal HL or mHS protein variants. Both genes showed a similar distribution of the inactive variants in different tissues. Surprisingly, the highest percentages were found in tissues where almost no ketone bodies are synthesized: heart, skeletal muscle and brain. Our results suggest that alternative splicing might coordinately block the two main enzymes of ketogenesis in specific human tissues.
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