(Q24314922)

neuromuscular process controlling posture

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

H Ichinose

1

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author name string

T Ohye

2

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E Takahashi

3

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N Seki

4

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T Hori

5

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M Segawa

6

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Y Nomura

7

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K Endo

8

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H Tanaka

9

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S Tsuji

Site-directed mutagenesis by overlap extension using the polymerase chain reaction

10

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language of work or name

English

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publication date

November 1994

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published in

Nature Genetics

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volume

8

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issue

3

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page(s)

236-42

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cites work

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

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7 January 2021

Tyrosine hydroxylase and levodopa responsive dystonia

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

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Tryptophan hydroxylation: measurement in pineal gland, brainstem, and carcinoid tumor.

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Biosynthesis and metabolism of tetrahydrobiopterin and molybdopterin

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Multiple mRNA forms of human GTP cyclohydrolase I

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Cloning and sequencing of cDNA encoding mouse GTP cyclohydrolase I.

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Cloning and sequencing of cDNA encoding human sepiapterin reductase--an enzyme involved in tetrahydrobiopterin biosynthesis

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

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

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

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7 January 2021

Low CSF hydroxylase cofactor (tetrahydrobiopterin) levels in inherited dystonia

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Tetrahydrobiopterin in dystonia: identification of abnormal metabolism and therapeutic trials.

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Dystonia with marked diurnal variation associated with biopterin deficiency

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Increase of GTP cyclohydrolase I activity in mononuclear blood cells by stimulation: detection of heterozygotes of GTP cyclohydrolase I deficiency

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

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

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

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7 January 2021

Neonatal hyperphenylalaninemia presumably caused by guanosine triphosphate-cyclohydrolase deficiency

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Early sexual differentiation of diencephalic dopaminergic neurons of the rat in vitro

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Tetrahydrobiopterin synthesis rate and turnover time in neuronal cultures from embryonic rat mesencephalon and hypothalamus

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Tetrahydrobiopterin administration in biopterin-deficient progressive dystonia with diurnal variation.

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Feedback regulation mechanisms for the control of GTP cyclohydrolase I activity

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R-banding and nonisotopic in situ hybridization: precise localization of the human type II collagen gene (COL2A1)

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Chromosome mapping of the human cytidine-5'-triphosphate synthetase (CTPS) gene to band 1p34.1-p34.3 by fluorescence in situ hybridization.

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7 January 2021

Assignment of human desmin gene to band 2q35 by nonradioactive in situ hybridization

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7 January 2021

Mapping of the MYC gene to band 8q24.12----q24.13 by R-banding and distal to fra(8)(q24.11), FRA8E, by fluorescence in situ hybridization

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7 January 2021

A sensitive assay of GTP cyclohydrolase I activity in rat and human tissues using radioimmunoassay of neopterin.

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7 January 2021

A general method of in vitro preparation and specific mutagenesis of DNA fragments: study of protein and DNA interactions

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