Literature DB >> 7814018

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

B Lüdecke1, B Dworniczak, K Bartholomé.   

Abstract

We have examined the molecular basis of Segawa's syndrome in six families with seven affected children. In one family two siblings with this disease carried a point mutation in exon 11 of the tyrosine hydroxylase gene, resulting in an amino acid exchange of Gln381 to Lys381. These results suggest that a change in tyrosine hydroxylase causes this form of Segawa's syndrome.

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Year:  1995        PMID： 7814018     DOI： 10.1007/bf00225091

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  10 in total

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Authors:  M H Polymeropoulos; H Xiao; D S Rath; C R Merril
Journal:  Nucleic Acids Res       Date:  1991-07-11       Impact factor: 16.971

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Authors:  L S Lerman; K Silverstein
Journal:  Methods Enzymol       Date:  1987       Impact factor: 1.600

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Journal:  Methods Enzymol       Date:  1987       Impact factor: 1.600

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Journal:  Acta Paediatr Scand       Date:  1983-11

Review 5.  Bipolar affective disorders linked to DNA markers on chromosome 11.

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Journal:  Nature       Date:  1987 Feb 26-Mar 4       Impact factor: 49.962

Review 6.  Comparative studies on the structure of human tyrosine hydroxylase with those of the enzyme of various mammals.

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Journal:  Comp Biochem Physiol C       Date:  1991

7.  Tyrosine hydroxylase and levodopa responsive dystonia.

Authors:  N A Fletcher; I J Holt; A E Harding; T G Nygaard; J Mallet; C D Marsden
Journal:  J Neurol Neurosurg Psychiatry       Date:  1989-01       Impact factor: 10.154

8.  Linkage mapping of dopa-responsive dystonia (DRD) to chromosome 14q.

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Journal:  Nat Genet       Date:  1993-12       Impact factor: 38.330

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Journal:  Nature       Date:  1987 Apr 16-22       Impact factor: 49.962

10.  Biochemical and neurophysiological investigations in two forms of Segawa's disease.

Authors:  W Görke; K Bartholomé
Journal:  Neuropediatrics       Date:  1990-02       Impact factor: 1.947
  10 in total
  41 in total

Review 1.  Neurochemistry and defects of biogenic amine neurotransmitter metabolism.

Authors:  K Hyland
Journal:  J Inherit Metab Dis       Date:  1999-06       Impact factor: 4.982

2.  A splice mutation in the GTP cyclohydrolase I gene causes dopa-responsive dystonia by exon skipping.

Authors:  M Skrygan; B Bartholomé; L Bonafé; N Blau; K Bartholomé
Journal:  J Inherit Metab Dis       Date:  2001-06       Impact factor: 4.982

Review 3.  Using the shared genetics of dystonia and ataxia to unravel their pathogenesis.

Authors:  Esther A R Nibbeling; Cathérine C S Delnooz; Tom J de Koning; Richard J Sinke; Hyder A Jinnah; Marina A J Tijssen; Dineke S Verbeek
Journal:  Neurosci Biobehav Rev       Date:  2017-01-28       Impact factor: 8.989

Review 4.  Primary dystonia: molecules and mechanisms.

Authors:  Lauren M Tanabe; Connie E Kim; Noga Alagem; William T Dauer
Journal:  Nat Rev Neurol       Date:  2009-10-13       Impact factor: 42.937

5.  Cultured human keratinocytes as a peripheral source of mRNA for tyrosine hydroxylase and aromatic L-amino acid decarboxylase.

Authors:  Y T Chang; G Mues; M R Pittelkow; K Hyland
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

Review 6.  GTP cyclohydrolase I gene, tetrahydrobiopterin, and tyrosine hydroxylase gene: their relations to dystonia and parkinsonism.

Authors:  T Nagatsu; H Ichinose
Journal:  Neurochem Res       Date:  1996-02       Impact factor: 3.996

7.  Genes and parkinsonism.

Authors:  N Wood
Journal:  J Neurol Neurosurg Psychiatry       Date:  1997-04       Impact factor: 10.154

8.  A Severe l-Dopa Responsive Dystonia With Slow and Continuous Improvement in a Patient With a Novel Mutation in the Tyrosine Hydroxylase Gene.

Authors:  Christian Marques Couto; Antônio Pedro Vargas; Fernando Dos Santos Coimbra; Olimar Leite de Assis Cunha; Lucia Willadino Braga
Journal:  Mov Disord Clin Pract       Date:  2019-05-02

Review 9.  Tyrosine hydroxylase and Parkinson's disease.

Authors:  J Haavik; K Toska
Journal:  Mol Neurobiol       Date:  1998-06       Impact factor: 5.590

10.  A murine model for human sepiapterin-reductase deficiency.

Authors:  Seungkyoung Yang; Young Jae Lee; Jin-Man Kim; Sean Park; Joanna Peris; Philip Laipis; Young Shik Park; Jae Hoon Chung; S Paul Oh
Journal:  Am J Hum Genet       Date:  2006-01-31       Impact factor: 11.025
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