Structure of human succinic semialdehyde dehydrogenase gene: identification of promoter region and alternatively processed isoforms (Q34147297)

31 July 2017

Structure of human succinic semialdehyde dehydrogenase gene: identification of promoter region and alternatively processed isoforms (English)

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31 July 2017

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31 July 2017

Pietro Pilo Boyl

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Mario Ledda

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Mario Ledda

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Patrizia Malaspina

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Patrizia Malaspina

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author name string

Paola Blasi

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31 July 2017

K Michael Gibson

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31 July 2017

Cornelis Jakobs

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31 July 2017

Boris Hogema

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31 July 2017

Shinjiro Akaboshi

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31 July 2017

Fabrizio Loreni

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31 July 2017

language of work or name

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1 August 2002

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Molecular Genetics and Metabolism

31 July 2017

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31 July 2017

76

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31 July 2017

4

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31 July 2017

348-362

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The clinical phenotype of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria): case reports of 23 new patients.

31 July 2017

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Gamma-aminobutyric acid (GABA) metabolism in mammalian neural and nonneural tissues

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The GABA paradox: multiple roles as metabolite, neurotransmitter, and neurodifferentiative agent

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Purification from human brain and some properties of two NADPH-linked aldehyde reductases which reduce succinic semialdehyde to 4-hydroxybutyrate

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Urinary excretion of gamma-hydroxybutyric acid in a patient with neurological abnormalities. The probability of a new inborn error of metabolism

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7 January 2021

Succinic semialdehyde dehydrogenase deficiency: an inborn error of gamma-aminobutyric acid metabolism

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7 January 2021

4-Hydroxybutyric acid and the clinical phenotype of succinic semialdehyde dehydrogenase deficiency, an inborn error of GABA metabolism

1 reference

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4-Hydroxybutyric aciduria: application of a fluorometric assay to the determination of succinic semialdehyde dehydrogenase activity in extracts of cultured human lymphoblasts.

1 reference

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Pre- and postnatal diagnosis of succinic semialdehyde dehydrogenase deficiency using enzyme and metabolite assays

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Pharmacologic rescue of lethal seizures in mice deficient in succinate semialdehyde dehydrogenase

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Succinic semialdehyde dehydrogenase from mammalian brain: subunit analysis using polyclonal antiserum

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Molecular cloning of the mature NAD(+)-dependent succinic semialdehyde dehydrogenase from rat and human. cDNA isolation, evolutionary homology, and tissue expression

1 reference

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7 January 2021

Construction of a YAC Contig Covering Human Chromosome 6p22

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Two exon-skipping mutations as the molecular basis of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria)

1 reference

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7 January 2021

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

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Diminishing adenovirus gene expression and viral replication by promoter replacement.

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Transfer of purified herpes virus thymidine kinase gene to cultured mouse cells

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Construction of cosmid libraries from flow-sorted human chromosomes 1, 6, 7, 11, 13, and 18 for reference library resources

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Gamma-hydroxybutyrate: an overview of the pros and cons for it being a neurotransmitter and/or a useful therapeutic agent

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The gamma-hydroxybutyrate signalling system in brain: organization and functional implications.

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Another case of gamma hydroxybutyrate (GHB) overdose.

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Coma induced by abuse of gamma-hydroxybutyrate (GBH or liquid ecstasy): a case report

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Peaks of linkage are localized by a BAC/PAC contig of the 6p reading disability locus

1 reference

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7 January 2021

Antisense transcripts in the human genome

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7 January 2021

Alternative poly(A) site selection in complex transcription units: means to an end?

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7 January 2021

Dendritic localization of mRNAs

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7 January 2021

Mechanisms of RNA localization and translational regulation

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7 January 2021

Polymorphisms of human aldehyde dehydrogenases. Consequences for drug metabolism and disease

1 reference

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Human aldehyde dehydrogenase gene family.

1 reference

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7 January 2021

Human brain "high Km" aldehyde dehydrogenase: purification, characterization, and identification as NAD+ -dependent succinic semialdehyde dehydrogenase.

1 reference

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7 January 2021

10.1016/S1096-7192(02)00105-1

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31 July 2017

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