Two exon-skipping mutations as the molecular basis of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria)
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A transcription map of the 6p22.3 reading disability locus identifying candidate genesThe X-Ray Crystal Structure of Escherichia coli Succinic Semialdehyde Dehydrogenase; Structural Insights into NADP+/Enzyme InteractionsDisorders of GABA metabolism: SSADH and GABA-transaminase deficienciesSuccinic semialdehyde dehydrogenase: biochemical-molecular-clinical disease mechanisms, redox regulation, and functional significanceGene inactivation and its implications for annotation in the era of personal genomicsA systematic survey of loss-of-function variants in human protein-coding genesA functional polymorphism in the succinate-semialdehyde dehydrogenase (aldehyde dehydrogenase 5 family, member A1) gene is associated with cognitive ability.Human aldehyde dehydrogenases: potential pathological, pharmacological, and toxicological impact.Succinic Semialdehyde Dehydrogenase Deficiency in a Chinese Boy: A Novel ALDH5A1 Mutation With Severe Phenotype.Neuropsychiatric morbidity in adolescent and adult succinic semialdehyde dehydrogenase deficiency patientsCircadian distribution of generalized tonic-clonic seizures associated with murine succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism.Comparative genomics of aldehyde dehydrogenase 5a1 (succinate semialdehyde dehydrogenase) and accumulation of gamma-hydroxybutyrate associated with its deficiencyThe GABA transaminase, ABAT, is essential for mitochondrial nucleoside metabolism.Alterations in gene expression after gamma-hydroxybutyric acid intake-A pilot study.Succinic semialdehyde dehydrogenase deficiency (SSADHD): Pathophysiological complexity and multifactorial trait associations in a rare monogenic disorder of GABA metabolismEvidence of redox imbalance in a patient with succinic semialdehyde dehydrogenase deficiencyAn alternatively spliced surfactant protein B mRNA in normal human lung: disease implication.Brain succinic semialdehyde dehydrogenase. Reactions of sulfhydryl residues connected with catalytic activity.A human derived SSADH coding variant is replacing the ancestral allele shared with primates."Transcriptomics": molecular diagnosis of inborn errors of metabolism via RNA-sequencing.Plant succinic semialdehyde dehydrogenase. Cloning, purification, localization in mitochondria, and regulation by adenine nucleotides.
P2860
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P2860
Two exon-skipping mutations as the molecular basis of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria)
description
1998 nî lūn-bûn
@nan
1998 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年学术文章
@wuu
1998年学术文章
@zh-cn
1998年学术文章
@zh-hans
1998年学术文章
@zh-my
1998年学术文章
@zh-sg
1998年學術文章
@yue
name
Two exon-skipping mutations as ...... cy (4-hydroxybutyric aciduria)
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Two exon-skipping mutations as ...... cy (4-hydroxybutyric aciduria)
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Two exon-skipping mutations as ...... cy (4-hydroxybutyric aciduria)
@en-gb
Two exon-skipping mutations as ...... cy (4-hydroxybutyric aciduria)
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type
label
Two exon-skipping mutations as ...... cy (4-hydroxybutyric aciduria)
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Two exon-skipping mutations as ...... cy (4-hydroxybutyric aciduria)
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Two exon-skipping mutations as ...... cy (4-hydroxybutyric aciduria)
@en-gb
Two exon-skipping mutations as ...... cy (4-hydroxybutyric aciduria)
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prefLabel
Two exon-skipping mutations as ...... cy (4-hydroxybutyric aciduria)
@ast
Two exon-skipping mutations as ...... cy (4-hydroxybutyric aciduria)
@en
Two exon-skipping mutations as ...... cy (4-hydroxybutyric aciduria)
@en-gb
Two exon-skipping mutations as ...... cy (4-hydroxybutyric aciduria)
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P2093
P2860
P50
P921
P356
P1476
Two exon-skipping mutations as ...... cy (4-hydroxybutyric aciduria)
@en
P2093
D D Hinson
K L Chambliss
K M Gibson
P2860
P304
P356
10.1086/301964
P407
P577
1998-08-01T00:00:00Z