Sequence of TY3H_HUMAN

tyrosine 3-monooxygenase

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Human chromosome 11 DNA sequence and analysis including novel gene identification.

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Le Bourdelles B.,Horellou P.,Le Caer J.P.,Denefle P.,Latta M.,Haavik J.,Guibert B.,Mayaux J.F.,Mallet J.

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Sutherland C.,Alterio J.,Campbell D.G.,Le Bourdelles B.,Mallet J.,Haavik J.,Cohen P.

Phosphorylation and activation of human tyrosine hydroxylase in vitro by mitogen-activated protein (MAP) kinase and MAP-kinase-activated kinases 1 and 2.

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Bademci G.,Edwards T.L.,Torres A.L.,Scott W.K.,Zuchner S.,Martin E.R.,Vance J.M.,Wang L.

A rare novel deletion of the tyrosine hydroxylase gene in Parkinson disease.

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

Hum. Genet.

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Luedecke B.,Bartholome K.

Frequent sequence variant in the human tyrosine hydroxylase gene.

Hum. Genet.

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Knappskog P.M.,Flatmark T.,Mallet J.,Luedecke B.,Bartholome K.

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

Hum. Mol. Genet.

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Kleppe R.,Rosati S.,Jorge-Finnigan A.,Alvira S.,Ghorbani S.,Haavik J.,Valpuesta J.M.,Heck A.J.,Martinez A.

Phosphorylation dependence and stoichiometry of the complex formed by tyrosine hydroxylase and 14-3-3gamma.

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Jorge-Finnigan A.,Kleppe R.,Jung-Kc K.,Ying M.,Marie M.,Rios-Mondragon I.,Salvatore M.F.,Saraste J.,Martinez A.

Phosphorylation at serine 31 targets tyrosine hydroxylase to vesicles for transport along microtubules.

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Tyrosine hydroxylase activity is regulated through the modification of the 176th cysteine residue.

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

Hum. Mol. Genet.

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Kunugi H.,Kawada Y.,Hattori M.,Ueki A.,Otsuka M.,Nanko S.

Association study of structural mutations of the tyrosine hydroxylase gene with schizophrenia and Parkinson's disease.

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Ishiguro H.,Arinami T.,Saito T.,Akazawa S.,Enomoto M.,Mitushio H.,Fujishiro H.,Tada K.,Akimoto Y.,Mifune H.,Shiozuka S.,Hamaguchi H.,Toru M.,Shibuya H.

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

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van den Heuvel L.P.W.J.,Luiten B.,Smeitink J.A.M.,de Rijk-van Andel J.F.,Hyland K.,Steenbergen-Spanjers G.C.H.,Janssen R.J.T.,Wevers R.A.

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

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Braeutigam C.,Steenbergen-Spanjers G.C.,Hoffmann G.F.,Dionisi-Vici C.,van den Heuvel L.P.,Smeitink J.A.,Wevers R.A.

Biochemical and molecular genetic characteristics of the severe form of tyrosine hydroxylase deficiency.

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Cargill M.,Altshuler D.,Ireland J.,Sklar P.,Ardlie K.,Patil N.,Shaw N.,Lane C.R.,Lim E.P.,Kalyanaraman N.,Nemesh J.,Ziaugra L.,Friedland L.,Rolfe A.,Warrington J.,Lipshutz R.,Daley G.Q.,Lander E.S.

Characterization of single-nucleotide polymorphisms in coding regions of human genes.

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Swaans R.J.M.,Rondot P.,Renier W.O.,Van Den Heuvel L.P.W.J.,Steenbergen-Spanjers G.C.H.,Wevers R.A.

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

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De Lonlay P.,Nassogne M.C.,van Gennip A.H.,van Cruchten A.C.,Billatte de Villemeur T.,Cretz M.,Stoll C.,Launay J.M.,Steenberger-Spante G.C.,van den Heuvel L.P.,Wevers R.A.,Saudubray J.M.,Abeling N.G.

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

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Schiller A.,Wevers R.A.,Steenbergen G.C.,Blau N.,Jung H.H.

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

Neurology

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Diepold K.,Schuetz B.,Rostasy K.,Wilken B.,Hougaard P.,Guettler F.,Romstad A.,Birk Moeller L.

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

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Moeller L.B.,Romstad A.,Paulsen M.,Hougaard P.,Ormazabal A.,Pineda M.,Blau N.,Guettler F.,Artuch R.

Pre- and postnatal diagnosis of tyrosine hydroxylase deficiency.

Prenat. Diagn.

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Verbeek M.M.,Steenbergen-Spanjers G.C.,Willemsen M.A.,Hol F.A.,Smeitink J.,Seeger J.,Grattan-Smith P.,Ryan M.M.,Hoffmann G.F.,Donati M.A.,Blau N.,Wevers R.A.

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

Ann. Neurol.

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2007

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Giovanniello T.,Leuzzi V.,Carducci C.,Carducci C.,Sabato M.L.,Artiola C.,Santagata S.,Pozzessere S.,Antonozzi I.

Tyrosine hydroxylase deficiency presenting with a biphasic clinical course.

Neuropediatrics

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Wu Z.Y.,Lin Y.,Chen W.J.,Zhao G.X.,Xie H.,Murong S.X.,Wang N.

Molecular analyses of GCH-1, TH and parkin genes in Chinese dopa-responsive dystonia families.

Clin. Genet.

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Clot F.,Grabli D.,Cazeneuve C.,Roze E.,Castelnau P.,Chabrol B.,Landrieu P.,Nguyen K.,Ponsot G.,Abada M.,Doummar D.,Damier P.,Gil R.,Thobois S.,Ward A.J.,Hutchinson M.,Toutain A.,Picard F.,Camuzat A.,Fedirko E.,San C.,Bouteiller D.,LeGuern E.,Durr A.,Vidailhet M.,Brice A.

Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia.

Brain

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Willemsen M.A.,Verbeek M.M.,Kamsteeg E.J.,de Rijk-van Andel J.F.,Aeby A.,Blau N.,Burlina A.,Donati M.A.,Geurtz B.,Grattan-Smith P.J.,Haeussler M.,Hoffmann G.F.,Jung H.,de Klerk J.B.,van der Knaap M.S.,Kok F.,Leuzzi V.,de Lonlay P.,Megarbane A.,Monaghan H.,Renier W.O.,Rondot P.,Ryan M.M.,Seeger J.,Smeitink J.A.,Steenbergen-Spanjers G.C.,Wassmer E.,Weschke B.,Wijburg F.A.,Wilcken B.,Zafeiriou D.I.,Wevers R.A.

Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis.

Brain

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2010

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Mak C.M.,Lam C.W.,Siu T.S.,Chan K.Y.,Siu W.K.,Yeung W.L.,Hui J.,Wong V.C.,Low L.C.,Ko C.H.,Fung C.W.,Chen S.P.,Yuen Y.P.,Lee H.C.,Yau E.,Chan B.,Tong S.F.,Tam S.,Chan Y.W.

Biochemical and molecular characterization of tyrosine hydroxylase deficiency in Hong Kong Chinese.

Mol. Genet. Metab.

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431-433

2010

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Haugarvoll K.,Bindoff L.A.

A novel compound heterozygous tyrosine hydroxylase mutation (p.R441P) with complex phenotype.

J. Parkinson's Dis.

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2011

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Giovanniello T.,Claps D.,Carducci C.,Carducci C.,Blau N.,Vigevano F.,Antonozzi I.,Leuzzi V.

A new tyrosine hydroxylase genotype associated with early-onset severe encephalopathy.

J. Child Neurol.

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2012

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Stamelou M.,Mencacci N.E.,Cordivari C.,Batla A.,Wood N.W.,Houlden H.,Hardy J.,Bhatia K.P.

Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency.

Neurology

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1268990

Chi C.S.,Lee H.F.,Tsai C.R.

Tyrosine hydroxylase deficiency in Taiwanese infants.

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1268991

Cai C.,Shi W.,Zeng Z.,Zhang M.,Ling C.,Chen L.,Cai C.,Zhang B.,Li W.D.

GTP cyclohydrolase I and tyrosine hydroxylase gene mutations in familial and sporadic dopa-responsive dystonia patients.

PLoS ONE

8

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2013

1268992

Fossbakk A.,Kleppe R.,Knappskog P.M.,Martinez A.,Haavik J.

Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in Dopa-responsive dystonia.

Hum. Mutat.

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880-890

2014