J Reiss

Summary

Country: Germany

Publications

  1. ncbi A mutation in the gene for the neurotransmitter receptor-clustering protein gephyrin causes a novel form of molybdenum cofactor deficiency
    J Reiss
    Institut für Medizinische Physik und Biophysik der Universität Münster, D 48149 Munster, Germany
    Am J Hum Genet 68:208-13. 2001
  2. ncbi Genetics of molybdenum cofactor deficiency
    J Reiss
    Institut fur Humangenetik, Gottingen, Germany
    Hum Genet 106:157-63. 2000
  3. ncbi Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type B
    J Reiss
    Institut fur Humangenetik, Gosslerstrasse 12d, D 37073 Gottingen, Germany
    Am J Hum Genet 64:706-11. 1999
  4. ncbi Genomic structure and mutational spectrum of the bicistronic MOCS1 gene defective in molybdenum cofactor deficiency type A
    J Reiss
    Institut für Humangenetik der Universität, Gottingen, Germany
    Hum Genet 103:639-44. 1998
  5. ncbi Molybdenum cofactor deficiency: first prenatal genetic analysis
    J Reiss
    Institut für Humangenetik der Universität, Gottingen, Germany
    Prenat Diagn 19:386-8. 1999
  6. ncbi Long-term rescue of a lethal inherited disease by adeno-associated virus-mediated gene transfer in a mouse model of molybdenum-cofactor deficiency
    S Kugler
    Neurologische Universitatsklinik, Abteilung Allgemeine Neurologie, OFG Research Center for the Molecular Physiology of the Brain, Gottingen, Germany
    Am J Hum Genet 80:291-7. 2007
  7. ncbi Mutations in a polycistronic nuclear gene associated with molybdenum cofactor deficiency
    J Reiss
    Institut fur Humangenetik, Gottingen, Germany
    Nat Genet 20:51-3. 1998
  8. ncbi Association of late-onset Alzheimer disease with a genotype of PLAU, the gene encoding urokinase-type plasminogen activator on chromosome 10q22.2
    U Finckh
    Institut fur Humangenetik, Universitatsklinikum Hamburg Eppendorf, Hamburg, Germany
    Neurogenetics 4:213-7. 2003
  9. ncbi Hypohomocysteinaemia and highly increased proportion of S-sulfonated plasma transthyretin in molybdenum cofactor deficiency
    J O Sass
    Department of Pediatrics, University of Innsbruck, Austria
    J Inherit Metab Dis 26:80-2. 2003
  10. ncbi Human molybdopterin synthase gene: identification of a bicistronic transcript with overlapping reading frames
    B Stallmeyer
    Botanisches Institut der Technischen Universität, Braunschweig, Humboldtstr 1, D 38106 Braunschweig, Germany
    Am J Hum Genet 64:698-705. 1999

Collaborators

  • R R Mendel
  • G Stoppe
  • R M Nitsch
  • C Hock
  • U Finckh
  • G Schwarz
  • A Alberici
  • D N Cooper
  • B Stallmeyer
  • S Kugler
  • J O Sass
  • R Hahnewald
  • M Garrido
  • A Shalata
  • A Shimizu
  • W Sperl
  • R Puttinger
  • M Kishikawa
  • W Erwa
  • F Rininsland
  • J Schulze
  • A Nerlich
  • J Kirsch
  • A L Haenni
  • G Drugeon
  • C Dorche
  • A van Gennip
  • N Abeling
  • R Szargel
  • M Berant
  • A Cohen-Akenine
  • N Cohen
  • M T Zabot
  • H Mandel
  • M Krawczak
  • R Slomski
  • S Niemann-Seyde
  • A Hahn
  • F Hanefeld

Detail Information

Publications15

  1. ncbi A mutation in the gene for the neurotransmitter receptor-clustering protein gephyrin causes a novel form of molybdenum cofactor deficiency
    J Reiss
    Institut für Medizinische Physik und Biophysik der Universität Münster, D 48149 Munster, Germany
    Am J Hum Genet 68:208-13. 2001
    ..Biochemical studies of the patient's fibroblasts demonstrate that gephyrin catalyzes the insertion of molybdenum into molybdopterin and suggest that this novel form of MoCo deficiency might be curable by molybdate supplementation...
  2. ncbi Genetics of molybdenum cofactor deficiency
    J Reiss
    Institut fur Humangenetik, Gottingen, Germany
    Hum Genet 106:157-63. 2000
    ..These observations point to a novel form of microcompartmentalization and render the MOCS genes ideal candidates for a somatic gene therapy approach...
  3. ncbi Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type B
    J Reiss
    Institut fur Humangenetik, Gosslerstrasse 12d, D 37073 Gottingen, Germany
    Am J Hum Genet 64:706-11. 1999
    ..These findings support the hypothetical mechanism, for both forms of MoCo deficiency, that formerly had been established by cell-culture experiments...
  4. ncbi Genomic structure and mutational spectrum of the bicistronic MOCS1 gene defective in molybdenum cofactor deficiency type A
    J Reiss
    Institut für Humangenetik der Universität, Gottingen, Germany
    Hum Genet 103:639-44. 1998
    ..This observation suggests the existence of more than the two previously described complementation groups in MoCo biosynthesis...
  5. ncbi Molybdenum cofactor deficiency: first prenatal genetic analysis
    J Reiss
    Institut für Humangenetik der Universität, Gottingen, Germany
    Prenat Diagn 19:386-8. 1999
    ..This confirmed that the fetus was not affected, since heterozygous carriers of a MoCo deficiency allele do not display any symptoms...
  6. ncbi Long-term rescue of a lethal inherited disease by adeno-associated virus-mediated gene transfer in a mouse model of molybdenum-cofactor deficiency
    S Kugler
    Neurologische Universitatsklinik, Abteilung Allgemeine Neurologie, OFG Research Center for the Molecular Physiology of the Brain, Gottingen, Germany
    Am J Hum Genet 80:291-7. 2007
    ..A single intrahepatic injection of AAV-MOCS1 resulted in fertile adult animals without any pathological phenotypes...
  7. ncbi Mutations in a polycistronic nuclear gene associated with molybdenum cofactor deficiency
    J Reiss
    Institut fur Humangenetik, Gottingen, Germany
    Nat Genet 20:51-3. 1998
    ..These data indicate the existence of a eukaryotic mRNA, which as a single and uniform transcript guides the synthesis of two different enzymatic polypeptides with disease-causing potential...
  8. ncbi Association of late-onset Alzheimer disease with a genotype of PLAU, the gene encoding urokinase-type plasminogen activator on chromosome 10q22.2
    U Finckh
    Institut fur Humangenetik, Universitatsklinikum Hamburg Eppendorf, Hamburg, Germany
    Neurogenetics 4:213-7. 2003
    ..Odds ratio for LOAD due to homozygosity C/C was 1.89 (95% confidence interval 1.37-2.61). PLAU is a promising new candidate gene for LOAD, with allele C (P141) being a recessive risk allele or allele T (L141) conferring protection...
  9. ncbi Hypohomocysteinaemia and highly increased proportion of S-sulfonated plasma transthyretin in molybdenum cofactor deficiency
    J O Sass
    Department of Pediatrics, University of Innsbruck, Austria
    J Inherit Metab Dis 26:80-2. 2003
  10. ncbi Human molybdopterin synthase gene: identification of a bicistronic transcript with overlapping reading frames
    B Stallmeyer
    Botanisches Institut der Technischen Universität, Braunschweig, Humboldtstr 1, D 38106 Braunschweig, Germany
    Am J Hum Genet 64:698-705. 1999
    ....
  11. ncbi The neurotransmitter receptor-anchoring protein gephyrin reconstitutes molybdenum cofactor biosynthesis in bacteria, plants, and mammalian cells
    B Stallmeyer
    Botanical Institute, Technical University of Braunschweig, 38023 Braunschweig, Germany
    Proc Natl Acad Sci U S A 96:1333-8. 1999
    ..These data indicate that in addition to clustering glycine receptors, gephyrin also is involved in Moco biosynthesis and illustrate the remarkable conservation of its function in Moco biosynthesis throughout phylogeny...
  12. ncbi Localization of a gene for molybdenum cofactor deficiency, on the short arm of chromosome 6, by homozygosity mapping
    A Shalata
    Department of Genetics, Tamkin Human Molecular Genetics Research Facility, Technion Israel Intitute of Technology, Bruce Rappaport Faculty of Medicine, Haifa, Israel
    Am J Hum Genet 63:148-54. 1998
    ..6, at a recombination fraction of 0, with marker D6S1575. These results now can be used to perform prenatal diagnosis with microsatellite markers. They also provide the only tool for carrier detection of this fatal disorder...
  13. ncbi Microlesions and polymorphisms in the Duchenne/Becker muscular dystrophy gene
    F Rininsland
    Institut für Humangenetik der Universität Göttingen, Germany
    Hum Genet 94:111-6. 1994
    ..Twelve polymorphisms with frequencies suitable for diagnostic purposes have been detected. A further 28 differences from the published sequence of the coding sequence or the promoter region are described...
  14. ncbi The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences
    M Krawczak
    Abteilung Humangenetik, Medizinische Hochschule, Hannover, Federal Republic of Germany
    Hum Genet 90:41-54. 1992
    ....
  15. ncbi Identification of a new DMD gene deletion by ectopic transcript analysis
    F Rininsland
    Institut fur Humangenetik, Universitatskliniken, Gottingen, Germany
    J Med Genet 29:647-51. 1992
    ....