ArticleMolecular genetics and metabolism2008
Homozygous carnitine palmitoyltransferase 1b (muscle isoform) deficiency is lethal in the mouse.
Article in Molecular genetics and metabolism, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 55 papers.
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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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Who cites it
55 citing papers in PubMed, 120 citations in OpenAlex.
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- AAV-mediated overexpression of CPT1B protects from cardiac hypertrophy and heart failure in a murine pressure overload model.Basic research in cardiology · 2025Article
- Combined Effects of Ketogenic Diet and Aerobic Exercise on Skeletal Muscle Fiber Remodeling and Metabolic Adaptation in Simulated Microgravity Mice.Metabolites · 2025Article
- Carnitine palmitoyltransferase 1 facilitates fatty acid oxidation in a non-cell-autonomous manner.Cell reports · 2024Article
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- Differing impact of phosphoglycerate mutase 1-deficiency on brown and white adipose tissue.iScience · 2022Article
- Nutrient Transporter Gene Expression in the Early Conceptus-Implications From Two Mouse Models of Diabetic Pregnancy.Frontiers in cell and developmental biology · 2022Article
- Dietary adenosine 5'-monophosphate supplementation increases food intake and remodels energy expenditure in mice.Food & nutrition research · 2022Article
- Epigenetics of Mitochondria-Associated Genes in Striated Muscle.Epigenomes · 2021Article
- Differential Effects of 17,18-EEQ and 19,20-EDP Combined with Soluble Epoxide Hydrolase InhibitorInternational journal of molecular sciences · 2021Article
- Cell-Permeable Succinate Rescues Mitochondrial Respiration in Cellular Models of Statin Toxicity.International journal of molecular sciences · 2021Article
- Carnitine Palmitoyltransferase System: A New Target for Anti-Inflammatory and Anticancer Therapy?Frontiers in pharmacology · 2021Review
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 1 country.
Funding
Abstract
Carnitine palmitoyltransferase-1 (CPT-1) catalyzes the rate-limiting step of mitochondrial beta-oxidation of long chain fatty acids (LCFA), the most abundant fatty acids in mammalian membranes and in energy metabolism. Human deficiency of the muscle isoform CPT-1b is poorly understood. In the current study, embryos with a homozygous knockout of Cpt-1b were lost before embryonic day 9.5-11.5. Also, while there were normal percentages of CPT-1b+/- pups born from both male and female CPT-1b+/- mice crossed with wild-type mates, the number of CPT-1b+/- pups from CPT-1b+/- breeding pairs was under-represented (63% of the expected number). Northern blot analysis demonstrated approximately 50% Cpt-1b mRNA expression in brown adipose tissue (BAT), heart and skeletal muscles in the CPT-1b+/- male mice. Consistent with tissue-specific expression of Cpt-1b mRNA in muscle but not liver, CPT-1+/- mice had approximately 60% CPT-1 activity in skeletal muscle and no change in total liver CPT-1 activity. CPT-1b+/- mice had normal fasting blood glucose concentration. Consistent with expression of CPT-1b in BAT and muscle, approximately 7% CPT-1b+/- mice (n=30) developed fatal hypothermia following a 3h cold challenge, while none of the CPT-1b+/+ mice (n=30) did. With a prolonged cold challenge (6h), significantly more CPT-1b+/- mice developed fatal hypothermia (52% CPT-1b+/- mice vs. 21% CPT-1b+/+ mice), with increased frequency in females of both genotypes (67% female vs. 38% male CPT-1b+/- mice, and 33% female vs. 8% male CPT-1b+/+ mice). Therefore, lethality of homozygous CPT-1b deficiency in the mice is consistent with paucity of human cases.
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Registered trials
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