Succinyl-CoA:3-ketoacid CoA transferase (SCOT): cloning of the human SCOT gene, tertiary structural modeling of the human SCOT monomer, and characterization of three pathogenic mutations
about
Obligate role for ketone body oxidation in neonatal metabolic homeostasisDifferential expression of succinyl CoA transferase (SCOT) genes in somatic and germline cells of the mouse testisCommon and rare variant analysis in early-onset bipolar disorder vulnerability.A structural mapping of mutations causing succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency.Patients homozygous for the T435N mutation of succinyl-CoA:3-ketoacid CoA Transferase (SCOT) do not show permanent ketosis.Ketone body metabolism and its defects.Successful adaptation to ketosis by mice with tissue-specific deficiency of ketone body oxidationKetone body metabolism and cardiovascular diseaseInborn errors of ketogenesis and ketone body utilization.Heterozygous carriers of succinyl-CoA:3-oxoacid CoA transferase deficiency can develop severe ketoacidosis.β-Hydroxybutyrate in the Brain: One Molecule, Multiple Mechanisms.Multi-dimensional Roles of Ketone Bodies in Fuel Metabolism, Signaling, and Therapeutics.Thermolabile phenotype of carnitine palmitoyltransferase II variations as a predisposing factor for influenza-associated encephalopathy.Molecular basis of two-exon skipping (exons 12 and 13) by c.1248+5g>a in OXCT1 gene: study on intermediates of OXCT1 transcripts in fibroblasts.Crystallographic trapping of the glutamyl-CoA thioester intermediate of family I CoA transferases.Inborn errors of ketone body utilization.Molecular study of electron transfer flavoprotein alpha-subunit deficiency in two Japanese children with different phenotypes of glutaric acidemia type II.A neonatal-onset succinyl-CoA:3-ketoacid CoA transferase (SCOT)-deficient patient with T435N and c.658-666dupAACGTGATT p.N220_I222dup mutations in the OXCT1 gene.
P2860
Q28505766-BB560C36-4076-4C56-8459-901265552D95Q28513729-F27164ED-D611-4A1E-B539-8D5E41E39FE3Q34028001-2758E4FA-4288-4F19-B885-0FFA1BE5AC7AQ34328420-4C41C18A-28F9-4F1A-BD84-35EDB9D06DB7Q34360786-226CA6C5-A828-4A98-9DD3-3BA0AD5B36B3Q34413875-F232DA3F-4FE8-4FD9-BD4A-5B2E0D8154C5Q36593104-2724F6A2-44B5-46C6-BF72-DFE39698F0D5Q36764435-ABE76352-0866-49A8-A2D0-1C508537C9F4Q37863517-214C6215-902E-476F-8278-0670A6DB073CQ38684866-27ACC9A3-F187-4E30-9A52-F9639C0BD311Q39003451-4EFB2DB2-66E4-4C1C-A2A7-44A02EB8A7D5Q39126658-57B13489-1583-4419-BED0-979D371ED070Q40511458-723FF2A9-0E39-444B-8BED-19CECBBFB06BQ46622103-CCBAE349-6D5F-46A3-AF6D-657E4A72395EQ46777992-CBDEBFAD-3BDA-4BDE-A0A9-B9D213E038E9Q51309965-DCD28EBC-0E83-4C4C-812F-03EEB6F1FE65Q51693814-B8520EDC-C4D0-43F7-8BE9-80F49870E540Q55053103-FF1C46B4-0581-49B7-9306-AEF00516434F
P2860
Succinyl-CoA:3-ketoacid CoA transferase (SCOT): cloning of the human SCOT gene, tertiary structural modeling of the human SCOT monomer, and characterization of three pathogenic mutations
description
2000 nî lūn-bûn
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2000 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի սեպտեմբերին հրատարակված գիտական հոդված
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2000年の論文
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2000年学术文章
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2000年学术文章
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2000年学术文章
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2000年学术文章
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2000年学术文章
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2000年學術文章
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name
Succinyl-CoA:3-ketoacid CoA tr ...... of three pathogenic mutations
@ast
Succinyl-CoA:3-ketoacid CoA tr ...... of three pathogenic mutations
@en
Succinyl-CoA:3-ketoacid CoA tr ...... of three pathogenic mutations
@en-gb
Succinyl-CoA:3-ketoacid CoA tr ...... of three pathogenic mutations
@nl
type
label
Succinyl-CoA:3-ketoacid CoA tr ...... of three pathogenic mutations
@ast
Succinyl-CoA:3-ketoacid CoA tr ...... of three pathogenic mutations
@en
Succinyl-CoA:3-ketoacid CoA tr ...... of three pathogenic mutations
@en-gb
Succinyl-CoA:3-ketoacid CoA tr ...... of three pathogenic mutations
@nl
prefLabel
Succinyl-CoA:3-ketoacid CoA tr ...... of three pathogenic mutations
@ast
Succinyl-CoA:3-ketoacid CoA tr ...... of three pathogenic mutations
@en
Succinyl-CoA:3-ketoacid CoA tr ...... of three pathogenic mutations
@en-gb
Succinyl-CoA:3-ketoacid CoA tr ...... of three pathogenic mutations
@nl
P2093
P356
P1433
P1476
Succinyl-CoA:3-ketoacid CoA tr ...... of three pathogenic mutations
@en
P2093
G A Mitchell
H Nakamura
J E Wraith
K E Niezen-Koning
M Palmieri
R J Wanders
S Kassovska-Bratinova
P304
P356
10.1006/GENO.2000.6282
P407
P50
P577
2000-09-01T00:00:00Z