(Q41496644)

1 October 2017

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title

GTP cyclohydrolase I gene, tetrahydrobiopterin, and tyrosine hydroxylase gene: their relations to dystonia and parkinsonism (English)

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1 October 2017

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2

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1 October 2017

T Nagatsu

1

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1 October 2017

language of work or name

English

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publication date

1 February 1996

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1 October 2017

published in

Neurochemical Research

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1 October 2017

volume

21

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1 October 2017

issue

2

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1 October 2017

page(s)

245-250

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https://scigraph.springernature.com/pub.10.1007/bf02529141

1 October 2017

exact match

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cites work

Dystonia with marked diurnal variation associated with biopterin deficiency

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FBF02529141

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

21 January 2018

1 reference

12 December 2020

THE STRUCTURE OF THE PHENYLALANINE-HYDROXYLATION COFACTOR

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12 December 2020

Biosynthesis and metabolism of tetrahydrobiopterin and molybdopterin

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12 December 2020

GTP cyclohydrolase I gene in hereditary progressive dystonia with marked diurnal fluctuation

1 reference

12 December 2020

Dopa-responsive dystonia

1 reference

12 December 2020

Recombinant human tyrosine hydroxylase types 1-4 show regulatory kinetic properties for the natural (6R)-tetrahydrobiopterin cofactor

1 reference

12 December 2020

Genes for human catecholamine-synthesizing enzymes

1 reference

12 December 2020

Chronic parkinsonism secondary to intravenous injection of meperidine analogues

1 reference

12 December 2020

Structure of the human tyrosine hydroxylase gene: alternative splicing from a single gene accounts for generation of four mRNA types

1 reference

12 December 2020

TYROSINE HYDROXYLASE. THE INITIAL STEP IN NOREPINEPHRINE BIOSYNTHESIS

1 reference

12 December 2020

In vivo enhancement of tyrosine hydroxylation in rat striatum by tetrahydrobiopterin.

1 reference

12 December 2020

Biochemical and fluorodopa positron emission tomographic findings in an asymptomatic carrier of the gene for dopa-responsive dystonia

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12 December 2020

Nosological concept of juvenile parkinsonism with reference to the dopa-responsive syndrome.

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12 December 2020

Dopa-responsive dystonia: pathological and biochemical observations in a case

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12 December 2020

Linkage mapping of dopa–responsive dystonia (DRD) to chromosome 14q

1 reference

12 December 2020

The gene for hereditary progressive dystonia with marked diurnal fluctuation maps to chromosome 14q

1 reference

12 December 2020

The clinical syndrome of striatal dopamine deficiency. Parkinsonism induced by 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP).

1 reference

12 December 2020

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

1 reference

12 December 2020

Multiple mRNA forms of human GTP cyclohydrolase I

1 reference

12 December 2020

Quantification of mRNA of tyrosine hydroxylase and aromatic L-amino acid decarboxylase in the substantia nigra in Parkinson's disease and schizophrenia

1 reference

12 December 2020

Increased heterogeneity of tyrosine hydroxylase in humans

1 reference

12 December 2020

Alterations in multiple tyrosine hydroxylase mRNAs in the substantia nigra, locus coeruleus and adrenal gland of MPTP-treated parkinsonian monkeys

1 reference

12 December 2020

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

1 reference

12 December 2020

A missense mutation in a patient with guanosine triphosphate cyclohydrolase I deficiency missed in the newborn screening program

1 reference

12 December 2020

CSF biopterin levels and clinical features of patients with juvenile parkinsonism.

1 reference

12 December 2020

GTP cyclohydrolase I deficiency, a new enzyme defect causing hyperphenylalaninemia with neopterin, biopterin, dopamine, and serotonin deficiencies and muscular hypotonia.

1 reference

12 December 2020

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

1 reference

12 December 2020

GTP cyclohydrolase I activity in mononuclear blood cells in juvenile parkinsonism

1 reference

12 December 2020

6R-L-erythro-5,6,7,8-tetrahydrobiopterin as a regulator of dopamine and serotonin biosynthesis in the rat brain.

1 reference

12 December 2020

Low CSF hydroxylase cofactor (tetrahydrobiopterin) levels in inherited dystonia

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12 December 2020

Tetrahydrobiopterin in Striatum: Localization in Dopamine Nerve Terminals and Role in Catecholamine Synthesis

1 reference

12 December 2020

Expression of four types of human tyrosine hydroxylase in COS cells

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12 December 2020

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

1 reference

12 December 2020

Brain dopamine and the syndromes of Parkinson and Huntington. Clinical, morphological and neurochemical correlations

1 reference

12 December 2020

Biosynthesis of tetrahydrobiopterin in parkinsonian human brain

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12 December 2020

Exon skipping caused by a base substitution at a splice site in the GTP cyclohydrolase I gene in a Japanese family with hereditary progressive dystonia dopa responsive dystonia

1 reference

12 December 2020

Characterization of mouse and human GTP cyclohydrolase I genes. Mutations in patients with GTP cyclohydrolase I deficiency

1 reference

12 December 2020

Chronic Parkinsonism in humans due to a product of meperidine-analog synthesis

1 reference

12 December 2020

ELUCIDATION OF THE RATE-LIMITING STEP IN NOREPINEPHRINE BIOSYNTHESIS IN THE PERFUSED GUINEA-PIG HEART

1 reference

12 December 2020

Hereditary progressive dystonia with marked diurnal fluctuation

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF02529141

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Dimensions Publication ID

1 October 2017

1005141319

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