Pages that link to "Q24318586"

The following pages link to Two exon-skipping mutations as the molecular basis of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria) (Q24318586):

Displaying 36 items.

• succinic semialdehyde dehydrogenase deficiency (Q2823333) (← links)
• Aldehyde dehydrogenase 5 family member A1 (Q21126464) (← links)
• A transcription map of the 6p22.3 reading disability locus identifying candidate genes (Q21266625) (← links)
• High-level expression and characterization of the recombinant enzyme, and tissue distribution of human succinic semialdehyde dehydrogenase (Q24337367) (← links)
• The X-Ray Crystal Structure of Escherichia coli Succinic Semialdehyde Dehydrogenase; Structural Insights into NADP+/Enzyme Interactions (Q27659983) (← links)
• Disorders of GABA metabolism: SSADH and GABA-transaminase deficiencies (Q28253528) (← links)
• (Q28299317) (← links)
• Molecular characterization of methylmalonate semialdehyde dehydrogenase deficiency (Q28613575) (← links)
• Succinic Semialdehyde Dehydrogenase: Biochemical–Molecular–Clinical Disease Mechanisms, Redox Regulation, and Functional Significance (Q28743137) (← links)
• Gene inactivation and its implications for annotation in the era of personal genomics (Q28743829) (← links)
• A systematic survey of loss-of-function variants in human protein-coding genes (Q29615756) (← links)
• SSADH variation in primates: intra- and interspecific data on a gene with a potential role in human cognitive functions (Q31045192) (← links)
• Structure of human succinic semialdehyde dehydrogenase gene: identification of promoter region and alternatively processed isoforms (Q34147297) (← links)
• Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency (Q34278712) (← links)
• A functional polymorphism in the succinate-semialdehyde dehydrogenase (aldehyde dehydrogenase 5 family, member A1) gene is associated with cognitive ability (Q34300747) (← links)
• Human aldehyde dehydrogenases: potential pathological, pharmacological, and toxicological impact (Q35077713) (← links)
• Succinic Semialdehyde Dehydrogenase Deficiency in a Chinese Boy: A Novel ALDH5A1 Mutation With Severe Phenotype (Q35224755) (← links)
• Neuropsychiatric morbidity in adolescent and adult succinic semialdehyde dehydrogenase deficiency patients (Q36925650) (← links)
• Circadian distribution of generalized tonic-clonic seizures associated with murine succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism. (Q36953244) (← links)
• Comparative genomics of aldehyde dehydrogenase 5a1 (succinate semialdehyde dehydrogenase) and accumulation of gamma-hydroxybutyrate associated with its deficiency (Q37133507) (← links)
• The GABA transaminase, ABAT, is essential for mitochondrial nucleoside metabolism (Q38538068) (← links)
• Alterations in gene expression after gamma-hydroxybutyric acid intake-A pilot study (Q38769666) (← links)
• Succinic semialdehyde dehydrogenase deficiency (SSADHD): Pathophysiological complexity and multifactorial trait associations in a rare monogenic disorder of GABA metabolism (Q38852149) (← links)
• Evidence of redox imbalance in a patient with succinic semialdehyde dehydrogenase deficiency (Q41808375) (← links)
• An alternatively spliced surfactant protein B mRNA in normal human lung: disease implication (Q41902269) (← links)
• The first case of 4-hydroxybutyric aciduria in Japan (Q43542179) (← links)
• Monitoring of 4‐hydroxybutyric acid levels in body fluids during vigabatrin treatment in succinic semialdehyde dehydrogenase deficiency (Q44640825) (← links)
• The molecular basis of succinic semialdehyde dehydrogenase deficiency in one family (Q44826656) (← links)
• Brain succinic semialdehyde dehydrogenase. Reactions of sulfhydryl residues connected with catalytic activity (Q45192406) (← links)
• A human derived SSADH coding variant is replacing the ancestral allele shared with primates (Q46517269) (← links)
• "Transcriptomics": molecular diagnosis of inborn errors of metabolism via RNA-sequencing (Q49670541) (← links)
• ALDH5A1 dehydrogenates SUCCSA to SUCCA (Q50297044) (← links)
• Plant succinic semialdehyde dehydrogenase. Cloning, purification, localization in mitochondria, and regulation by adenine nucleotides. (Q55033329) (← links)
• Inhibition of rat brain lipid synthesis in vitro by 4-hydroxybutyric acid (Q73383373) (← links)
• Succinic Semialdehyde Dehydrogenase Deficiency: An Update (Q89860914) (← links)
• Functional analysis of thirty-four suspected pathogenic missense variants in ALDH5A1 gene associated with succinic semialdehyde dehydrogenase deficiency (Q94661617) (← links)