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Quoted phrase not found in phrase index: "Deficiency of acetyl-CoA acetyltransferase"
Page 1
The ménage à trois of autophagy, lipid droplets and liver disease.
Filali-Mouncef Y, Hunter C, Roccio F, Zagkou S, Dupont N, Primard C, Proikas-Cezanne T, Reggiori F. Filali-Mouncef Y, et al. Autophagy. 2022 Jan;18(1):50-72. doi: 10.1080/15548627.2021.1895658. Epub 2021 Apr 2. Autophagy. 2022. PMID: 33794741 Free PMC article. Review.
Autophagic pathways cross with lipid homeostasis and thus provide energy and essential building blocks that are indispensable for liver functions. Energy deficiencies are compensated by breaking down lipid droplets (LDs), intracellular organelles that store neutral lipids, …
Autophagic pathways cross with lipid homeostasis and thus provide energy and essential building blocks that are indispensable for liver func …
TREM2 Regulates Microglial Cholesterol Metabolism upon Chronic Phagocytic Challenge.
Nugent AA, Lin K, van Lengerich B, Lianoglou S, Przybyla L, Davis SS, Llapashtica C, Wang J, Kim DJ, Xia D, Lucas A, Baskaran S, Haddick PCG, Lenser M, Earr TK, Shi J, Dugas JC, Andreone BJ, Logan T, Solanoy HO, Chen H, Srivastava A, Poda SB, Sanchez PE, Watts RJ, Sandmann T, Astarita G, Lewcock JW, Monroe KM, Di Paolo G. Nugent AA, et al. Neuron. 2020 Mar 4;105(5):837-854.e9. doi: 10.1016/j.neuron.2019.12.007. Epub 2020 Jan 2. Neuron. 2020. PMID: 31902528 Free article.
TREM2-deficient microglia phagocytose myelin debris but fail to clear myelin cholesterol, resulting in cholesteryl ester (CE) accumulation. CE increase is also observed in APOE-deficient glial cells, reflecting impaired brain cholesterol transport. ...
TREM2-deficient microglia phagocytose myelin debris but fail to clear myelin cholesterol, resulting in cholesteryl ester (CE) accumul …
Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis.
Paquay S, Bourillon A, Pichard S, Benoist JF, de Lonlay P, Dobbelaere D, Fouilhoux A, Guffon N, Rouvet I, Labarthe F, Mention K, Touati G, Valayannopoulos V, Ogier de Baulny H, Elmaleh-Bergès M, Acquaviva-Bourdain C, Vianey-Saban C, Schiff M. Paquay S, et al. J Inherit Metab Dis. 2017 May;40(3):415-422. doi: 10.1007/s10545-017-0021-y. Epub 2017 Mar 2. J Inherit Metab Dis. 2017. PMID: 28255778
BACKGROUND: Mitochondrial acetoacetyl-CoA thiolase (T2) deficiency affects ketone body and isoleucine catabolism. ...Our findings confirm previous observations that neurological symptoms in T2 deficiency may occur unrelated to ketoacidosis. ...
BACKGROUND: Mitochondrial acetoacetyl-CoA thiolase (T2) deficiency affects ketone body and isoleucine catabolism. ...Our findi …
Molecular basis of beta-ketothiolase deficiency: mutations and polymorphisms in the human mitochondrial acetoacetyl-coenzyme A thiolase gene.
Fukao T, Yamaguchi S, Orii T, Hashimoto T. Fukao T, et al. Hum Mutat. 1995;5(2):113-20. doi: 10.1002/humu.1380050203. Hum Mutat. 1995. PMID: 7749408 Review.
beta-Ketothiolase deficiency is a deficiency in mitochondrial acetoacetyl-CoA thiolase (T2). We present here an update on mutations and polymorphisms in the human T2 gene. No large deletion or insertion has been observed in Southern blot analysis. Seve …
beta-Ketothiolase deficiency is a deficiency in mitochondrial acetoacetyl-CoA thiolase (T2). We present here an update …
Enhancement of acetyl-CoA: 1-O-alkyl-2-lyso-sn-glycero-3-phosphocholine acetyltransferase activity by hydrogen peroxide.
Tosaki T, Sakamoto H, Kitahara J, Imai H, Nakagawa Y. Tosaki T, et al. Biol Pharm Bull. 2007 Feb;30(2):272-8. doi: 10.1248/bpb.30.272. Biol Pharm Bull. 2007. PMID: 17268064 Free article.
Intracellular redox was involved in regulating PAF synthesis, since the addition of antioxidants such as N-acetylcysteine, pyrrolidinecarbodithioic acid (PDTC), and Trolox reduced PAF production in H2O2-treated HUVEC. The activity of acetyl-CoA: 1-O-alkyl-2-lyso-sn- …
Intracellular redox was involved in regulating PAF synthesis, since the addition of antioxidants such as N-acetylcysteine, pyrrolidinecarbod …
Management and long-term evolution of a patient with 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency.
Muñoz-Bonet JI, Ortega-Sánchez MD, León Guijarro JL. Muñoz-Bonet JI, et al. Ital J Pediatr. 2017 Jan 19;43(1):12. doi: 10.1186/s13052-017-0333-4. Ital J Pediatr. 2017. PMID: 28257639 Free PMC article.
BACKGROUND: 3-Hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA) lyase deficiency is a rare inborn error of metabolism characterized by recurrent metabolic crises caused by fasting, intercurrent illness and excessive physical exercise. ...CONCLUSIONS: The alcohol consump …
BACKGROUND: 3-Hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA) lyase deficiency is a rare inborn error of metabolism characterize …
3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients.
Grünert SC, Schlatter SM, Schmitt RN, Gemperle-Britschgi C, Mrázová L, Balcı MC, Bischof F, Çoker M, Das AM, Demirkol M, de Vries M, Gökçay G, Häberle J, Uçar SK, Lotz-Havla AS, Lücke T, Roland D, Rutsch F, Santer R, Schlune A, Staufner C, Schwab KO, Mitchell GA, Sass JO. Grünert SC, et al. Mol Genet Metab. 2017 Jul;121(3):206-215. doi: 10.1016/j.ymgme.2017.05.014. Epub 2017 May 22. Mol Genet Metab. 2017. PMID: 28583327
3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency (HMGCLD) is a rare inborn error of ketone body synthesis and leucine degradation, caused by mutations in the HMGCL gene. ...Our findings suggest that the clinical course of HMGCLD cannot be predicted accurately …
3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency (HMGCLD) is a rare inborn error of ketone body synthesis and leucine degradati …
Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands.
Ruijter GJ, Valstar MJ, van de Kamp JM, van der Helm RM, Durand S, van Diggelen OP, Wevers RA, Poorthuis BJ, Pshezhetsky AV, Wijburg FA. Ruijter GJ, et al. Mol Genet Metab. 2008 Feb;93(2):104-11. doi: 10.1016/j.ymgme.2007.09.011. Epub 2007 Nov 19. Mol Genet Metab. 2008. PMID: 18024218
Mucopolysaccharidosis IIIC (MPS IIIC, Sanfilippo C syndrome) is a lysosomal storage disorder caused by deficiency of the lysosomal enzyme acetyl-CoA:alpha-glucosaminide N-acetyltransferase (HGSNAT). ...This study demonstrates that MPS IIIC has a milder …
Mucopolysaccharidosis IIIC (MPS IIIC, Sanfilippo C syndrome) is a lysosomal storage disorder caused by deficiency of the lysosomal en …
Evidence for forebrain cholinergic neuronal loss in congenital ornithine transcarbamylase deficiency.
Butterworth RF. Butterworth RF. Metab Brain Dis. 2000 Mar;15(1):83-91. doi: 10.1007/BF02680015. Metab Brain Dis. 2000. PMID: 10885542 Review.
Congenital ornithine transcarbamylase (OTC) deficiency in humans results in failure to thrive, hypotonia, seizures and mental retardation. ...A partial correction of the cholinergic deficit was observed following treatment with acetyl-L-carnitine. Possible me …
Congenital ornithine transcarbamylase (OTC) deficiency in humans results in failure to thrive, hypotonia, seizures and mental retarda …
Newborn screening for 3-hydroxy-3-methylglutaric aciduria using direct analysis in real-time mass spectrometry.
Huang Z, Liu Y, Huang X, Hu Z, Liu H, Wang L, Liu C, Ren Y. Huang Z, et al. J Mass Spectrom. 2019 Feb;54(2):134-140. doi: 10.1002/jms.4314. J Mass Spectrom. 2019. PMID: 30468550
Instrument parameter settings were optimized to obtain high sensitive and accurate determination of 3-HMG acid. The use of helium gas heated to temperature of 400C was observed to permit deprotonation, 3-HMG acid producing an abundant (M-H)(-) (m/z 161) in the negative ion …
Instrument parameter settings were optimized to obtain high sensitive and accurate determination of 3-HMG acid. The use of helium gas heated …
41 results