Mutations in human monoamine-related neurotransmitter pathway genes (Q37150157)

18 August 2017

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title

Mutations in human monoamine-related neurotransmitter pathway genes (English)

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18 August 2017

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1

Jan Haavik

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18 August 2017

Nenad Blau

2

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PubMed ID

18444257

18 August 2017

Beat Thöny

series ordinal

3

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18 August 2017

1 July 2008

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18 August 2017

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18 August 2017

29

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18 August 2017

891-902

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18 August 2017

7

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Reaction and substrate specificity of recombinant pig kidney Dopa decarboxylase under aerobic and anaerobic conditions

18 August 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

L-dopa-responsive infantile hypokinetic rigid parkinsonism due to tyrosine hydroxylase deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

Dopa-responsive dystonia simulating spastic paraplegia due to tyrosine hydroxylase (TH) gene mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

Aromatic L-amino acid decarboxylase deficiency: clinical features, diagnosis, and treatment of a new inborn error of neurotransmitter amine synthesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

Aromatic L-amino acid decarboxylase deficiency: clinical features, treatment, and prognosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

Long-term course of L-dopa-responsive dystonia caused by tyrosine hydroxylase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

Characterization of wild-type and mutant forms of human tryptophan hydroxylase 2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

Aromatic l-aminoacid decarboxylase deficiency: unusual neonatal presentation and additional findings in organic acid analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

Human thermolabile phenol sulfotransferase gene (STM): molecular cloning and structural characterization

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

Distinct promoters direct neuronal and nonneuronal expression of rat aromatic L-amino acid decarboxylase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

5-HIAA in the cerebrospinal fluid. A biochemical suicide predictor?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

Endogenous restoration of noradrenaline by precursor therapy in dopamine-beta-hydroxylase deficiency.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

Attention-deficit hyperactivity disorder

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

Two novel variants in the DOPA decarboxylase gene: association with bipolar affective disorder.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

Associations of a regulatory polymorphism of monoamine oxidase-A gene promoter (MAOA-uVNTR) with symptoms of depression and sleep quality

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

Abnormal behavior associated with a point mutation in the structural gene for monoamine oxidase A

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

A rare truncating mutation in ADH1C (G78Stop) shows significant association with Parkinson disease in a large international sample

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

COMT genotype increases risk for bipolar I disorder and influences neurocognitive performance

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

Aggressive behavior and altered amounts of brain serotonin and norepinephrine in mice lacking MAOA

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

Role of genotype in the cycle of violence in maltreated children

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

Levodopa-responsive aromatic L-amino acid decarboxylase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

Brain-specific tryptophan hydroxylase 2 (TPH2): a functional Pro206Ser substitution and variation in the 5'-region are associated with bipolar affective disorder

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

Functional polymorphisms in dopamine and serotonin pathway genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

Tyrosine hydroxylase deficiency unresponsive to L-dopa treatment with unusual clinical and biochemical presentation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

DBH gene variants that cause low plasma dopamine beta hydroxylase with or without a severe orthostatic syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

Levodopa-responsive infantile parkinsonism due to a novel mutation in the tyrosine hydroxylase gene and exacerbation by viral infections

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

Targeted insertion of the Cre-recombinase gene at the phenylethanolamine n-methyltransferase locus: a new model for studying the developmental distribution of adrenergic cells.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

Substantial production of dopamine in the human gastrointestinal tract

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

Catecholamine Metabolism: A Contemporary View with Implications for Physiology and Medicine

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

Plasma metanephrines in renal failure

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

Aromatic L-amino acid decarboxylase deficiency with hyperdopaminuria. Clinical and laboratory findings in response to different therapies.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

Early trauma and increased risk for physical aggression during adulthood: the moderating role of MAOA genotype

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

Association study of MAO-A and DRD4 genes in schizophrenic patients with aggressive behavior

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

Plasticity in serotonin control mechanisms in the gut.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

Catechol-O-methyltransferase-deficient mice exhibit sexually dimorphic changes in catecholamine levels and behavior

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

Catecholamine phenotyping: clues to the diagnosis, treatment, and pathophysiology of neurogenetic disorders

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

Tryptophan hydroxylation in brain.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

Tyrosine hydroxylase deficiency: clinical manifestations of catecholamine insufficiency in infancy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

A single human gene encoding multiple tyrosine hydroxylases with different predicted functional characteristics

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

Support for the involvement of TPH2 gene in affective disorders

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

Chromosomal mapping of two genetic loci associated with blood-pressure regulation in hereditary hypertensive rats

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

Human SULT1A3 pharmacogenetics: gene duplication and functional genomic studies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

Isolation and characterization of a cDNA clone encoding human aromatic L-amino acid decarboxylase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

Systematic search for variations in the tyrosine hydroxylase gene and their associations with schizophrenia, affective disorders, and alcoholism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

Genetic mapping of a gene causing hypertension in the stroke-prone spontaneously hypertensive rat

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

A branch site mutation leading to aberrant splicing of the human tyrosine hydroxylase gene in a child with a severe extrapyramidal movement disorder

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

Human phenylethanolamine N-methyltransferase pharmacogenomics: gene re-sequencing and functional genomics

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

Genetic susceptibility for human familial essential hypertension in a region of homology with blood pressure linkage on rat chromosome 10.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

Plasma and cerebrospinal fluid neurochemical pattern in Menkes disease.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

Isolation of a novel cDNA clone for human tyrosine hydroxylase: alternative RNA splicing produces four kinds of mRNA from a single gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

Resequencing PNMT in European hypertensive and normotensive individuals: no common susceptibilily variants for hypertension and purifying selection on intron 1.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

Mutations in the dopamine beta-hydroxylase gene are associated with human norepinephrine deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

Human dopamine beta-hydroxylase gene: two mRNA types having different 3'-terminal regions are produced through alternative polyadenylation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

Different mRNAs code for dopa decarboxylase in tissues of neuronal and nonneuronal origin.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

Association of Ala72Ser polymorphism with COMT enzyme activity and the risk of schizophrenia in Koreans

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

Specific genetic deficiencies of the A and B isoenzymes of monoamine oxidase are characterized by distinct neurochemical and clinical phenotypes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

The spectrum of behaviors influenced by serotonin

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

Frequent sequence variant in the human tyrosine hydroxylase gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

Recessively inherited L-DOPA-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

Cloning, expression and structure of catechol-O-methyltransferase.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

Tyrosine hydroxylase from cloning to neuropsychiatric disorders.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

Phenylethanolamine N-methyltransferase (PNMT) gene and early-onset Alzheimer disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

Different properties of the central and peripheral forms of human tryptophan hydroxylase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

Pre- and postnatal diagnosis of tyrosine hydroxylase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

Human catechol-O-methyltransferase haplotypes modulate protein expression by altering mRNA secondary structure.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

Analysis of the dopamine beta hydroxylase gene in Gilles de la tourette syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

Dopamine beta-hydroxylase gene polymorphisms and psychotic symptoms in schizophrenia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

Phenylethanolamine N-methyltransferase G-148A genetic variant and weight loss in obese women

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

Visualization and ablation of phenylethanolamine N-methyltransferase producing cells in transgenic mice.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

Phenol sulfotransferase pharmacogenetics in humans: association of common SULT1A1 alleles with TS PST phenotype

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

A novel neurodevelopmental syndrome responsive to 5-hydroxytryptophan and carbidopa

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

A homozygous tyrosine hydroxylase gene promoter mutation in a patient with dopa-responsive encephalopathy: Clinical, biochemical and genetic analysis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

The association of DNA sequence variation at the MAOA genetic locus with quantitative behavioural traits in normal males

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

Effects of mutations in tyrosine hydroxylase associated with progressive dystonia on the activity and stability of the protein.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

The molecular genetics of cognition: dopamine, COMT and BDNF.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

Characterization of a functional promoter polymorphism of the human tryptophan hydroxylase 2 gene in serotonergic raphe neurons

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

Dopamine beta-hydroxylase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

Monoamine oxidase in neuropsychiatry and behavior

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

Monoamine oxidase: from genes to behavior

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

Cloning, after cloning, knock-out mice, and physiological functions of MAO A and B

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

Molecular cloning of genomic DNA and chromosomal assignment of the gene for human aromatic L-amino acid decarboxylase, the enzyme for catecholamine and serotonin biosynthesis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

Four novel mutations in the tyrosine hydroxylase gene in patients with infantile parkinsonism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

Aromatic L-amino acid decarboxylase deficiency: overview of clinical features and outcomes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

Unusually mild phenotype of AADC deficiency in 2 siblings.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

Human catecholamine sulfotransferase (SULT1A3) pharmacogenetics: functional genetic polymorphism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

Association of brain-specific tryptophan hydroxylase, TPH2, with unipolar and bipolar disorder in a Northern Swedish, isolated population.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-DOPA-responsive dystonia in the Dutch population.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

Aromatic L-amino acid decarboxylase enzyme activity in deficient patients and heterozygotes.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

A unique central tryptophan hydroxylase isoform

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

Synthesis of serotonin by a second tryptophan hydroxylase isoform

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

How PAH gene mutations cause hyper-phenylalaninemia and why mechanism matters: insights from in vitro expression

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

Genetic mechanisms for adrenergic control during stress

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

A promoter polymorphism in the monoamine oxidase A gene is associated with the pineal MAOA activity in Alzheimer's disease patients.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

Loss-of-function mutation in tryptophan hydroxylase-2 identified in unipolar major depression

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

DOPA decarboxylase gene is associated with nicotine dependence

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

Functional polymorphisms of the brain serotonin synthesizing enzyme tryptophan hydroxylase-2.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

Response to Zhang et al. (2005): loss-of-function mutation in tryptophan hydroxylase-2 identified in unipolar major depression. Neuron 45, 11-16.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

Haplotype-based linkage of tryptophan hydroxylase 2 to suicide attempt, major depression, and cerebrospinal fluid 5-hydroxyindoleacetic acid in 4 populations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

Location, development, control, and function of extraadrenal phenylethanolamine N-methyltransferase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20700

7 January 2021

Identifiers

DOI

10.1002/HUMU.20700

1 reference

18 August 2017

1 reference

PubMed ID

18444257