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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 …
Mucopolysaccharidosis III (Sanfilippo Syndrome)- disease presentation and experimental therapies.
Gilkes JA, Heldermon CD. Gilkes JA, et al. Pediatr Endocrinol Rev. 2014 Sep;12 Suppl 1:133-40. Pediatr Endocrinol Rev. 2014. PMID: 25345095 Review.
Sanfilippo Syndrome or Mucopolysaccharidosis Ill (MPS Ill) is a group of lysosomal storage diseases resulting from a deficiency of one of four lysosomal enzymes: Type A - heparan N-sulfatase (SGSH), Type B - a-N-acetylglucosaminidase (NAGLU), Type C - acetyl CoA …
Sanfilippo Syndrome or Mucopolysaccharidosis Ill (MPS Ill) is a group of lysosomal storage diseases resulting from a deficiency of on …
Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency.
Abdelkreem E, Harijan RK, Yamaguchi S, Wierenga RK, Fukao T. Abdelkreem E, et al. Hum Mutat. 2019 Oct;40(10):1641-1663. doi: 10.1002/humu.23831. Epub 2019 Jul 3. Hum Mutat. 2019. PMID: 31268215 Free PMC article. Review.
Mitochondrial acetoacetyl-CoA thiolase (T2, encoded by the ACAT1 gene) deficiency is an inherited disorder of ketone body and isoleucine metabolism. ...For these variants, which are inactive, the side chains point into the active site. In patients with T2 deficie …
Mitochondrial acetoacetyl-CoA thiolase (T2, encoded by the ACAT1 gene) deficiency is an inherited disorder of ketone body and …
Hyperketotic states due to inherited defects of ketolysis.
Saudubray JM, Specola N, Middleton B, Lombes A, Bonnefont JP, Jakobs C, Vassault A, Charpentier C, Day R. Saudubray JM, et al. Enzyme. 1987;38(1-4):80-90. doi: 10.1159/000469194. Enzyme. 1987. PMID: 2894307 Review.
From the description of 2 unrelated patients with succinyl-CoA transferase (3-OAT) deficiency and 1 patient with acetoacetyl-CoA thiolase (AAT) deficiency, we have attempted to draw the clinical and metabolic consequences of such defects. The associati …
From the description of 2 unrelated patients with succinyl-CoA transferase (3-OAT) deficiency and 1 patient with acetoacetyl- …
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. ...We therefore conducted a retrospective review on a French T2-deficient patient series searching for neuromotor impairment. METHODS: In total, …
BACKGROUND: Mitochondrial acetoacetyl-CoA thiolase (T2) deficiency affects ketone body and isoleucine catabolism. ...We theref …
Inborn errors of isoleucine degradation: a review.
Korman SH. Korman SH. Mol Genet Metab. 2006 Dec;89(4):289-99. doi: 10.1016/j.ymgme.2006.07.010. Epub 2006 Sep 6. Mol Genet Metab. 2006. PMID: 16950638 Review.
Three inborn errors have been identified in the pathway of isoleucine degradation. Deficiency of beta-ketothiolase (beta-KT, also known as T2, mitochondrial acetoacetyl-CoA thiolase and acetyl-CoA acetyltransferase 1) is a well-described disorde …
Three inborn errors have been identified in the pathway of isoleucine degradation. Deficiency of beta-ketothiolase (beta-KT, also kno …
The management of pregnancy and delivery in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.
Pipitone A, Raval DB, Duis J, Vernon H, Martin R, Hamosh A, Valle D, Gunay-Aygun M. Pipitone A, et al. Am J Med Genet A. 2016 Jun;170(6):1600-2. doi: 10.1002/ajmg.a.37620. Epub 2016 Mar 21. Am J Med Genet A. 2016. PMID: 26997609 Free PMC article.
3-hydroxy-3-methylglutaric (HMG)-CoA lyase is required for ketogenesis and leucine degradation. Patients with HMG-CoA lyase deficiency typically present with hypoketotic hypoglycemia and metabolic acidosis, which can be fatal if untreated. The patient is a 28 …
3-hydroxy-3-methylglutaric (HMG)-CoA lyase is required for ketogenesis and leucine degradation. Patients with HMG-CoA lyase …
Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) gene.
Feldhammer M, Durand S, Mrázová L, Boucher RM, Laframboise R, Steinfeld R, Wraith JE, Michelakakis H, van Diggelen OP, Hrebícek M, Kmoch S, Pshezhetsky AV. Feldhammer M, et al. Hum Mutat. 2009 Jun;30(6):918-25. doi: 10.1002/humu.20986. Hum Mutat. 2009. PMID: 19479962 Review.
Mucopolysaccharidosis (MPS) type IIIC or Sanfilippo syndrome type C is a rare autosomal recessive disorder caused by the deficiency of the lysosomal membrane enzyme, heparan sulfate acetyl-CoA (AcCoA): alpha-glucosaminide N-acetyltransferase (HGSNAT; E …
Mucopolysaccharidosis (MPS) type IIIC or Sanfilippo syndrome type C is a rare autosomal recessive disorder caused by the deficiency o …
Molecular identification of aspartate N-acetyltransferase and its mutation in hypoacetylaspartia.
Wiame E, Tyteca D, Pierrot N, Collard F, Amyere M, Noel G, Desmedt J, Nassogne MC, Vikkula M, Octave JN, Vincent MF, Courtoy PJ, Boltshauser E, van Schaftingen E. Wiame E, et al. Biochem J. 2009 Dec 14;425(1):127-36. doi: 10.1042/BJ20091024. Biochem J. 2009. PMID: 19807691 Free article.
Transfection studies in HEK-293T [human embryonic kidney-293 cells expressing the large T-antigen of SV40 (simian virus 40)] indicated that NAT8L, but not NAT14, catalysed the synthesis of NAA from L-aspartate and acetyl-CoA. The specificity of NAT8L, its Km for asp …
Transfection studies in HEK-293T [human embryonic kidney-293 cells expressing the large T-antigen of SV40 (simian virus 40)] indicated that …
Prenatal diagnosis of succinyl-coenzyme A:3-ketoacid coenzyme A transferase deficiency.
Fukao T, Song XQ, Watanabe H, Hirayama K, Sakazaki H, Shintaku H, Imanaka M, Orii T, Kondo N. Fukao T, et al. Prenat Diagn. 1996 May;16(5):471-4. doi: 10.1002/(SICI)1097-0223(199605)16:5<471::AID-PD898>3.0.CO;2-E. Prenat Diagn. 1996. PMID: 8844009
Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency is a rare disorder of ketone body catabolism. ...To our knowledge, this report is the first of prenatal diagnosis of SCOT deficiency....
Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency is a rare disorder of ketone body catabolism. ...To our knowl …
58 results