J Reiss

Summary

Country: Germany

Publications

  1. ncbi request reprint Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH
    Jochen Reiss
    Institut für Humangenetik der Universitätskliniken Göttingen, Gottingen, Germany
    Hum Mutat 21:569-76. 2003
  2. ncbi request reprint 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
  3. doi request reprint Molybdenum cofactor deficiency: Mutations in GPHN, MOCS1, and MOCS2
    Jochen Reiss
    Institut fur Humangenetik, Universitatsmedizin Gottingen, Germany
    Hum Mutat 32:10-8. 2011
  4. pmc AAV-mediated gene therapy for metabolic diseases: dosage and reapplication studies in the molybdenum cofactor deficiency model
    Rita Hahnewald
    , , , Germany
    Genet Vaccines Ther 7:9. 2009
  5. ncbi request reprint The pathogenesis of molybdenum cofactor deficiency, its delay by maternal clearance, and its expression pattern in microarray analysis
    Jochen Reiss
    Institut für Humangenetik der Universität Göttingen, Heinrich Düker Weg 12, 37073 Gottingen, Germany
    Mol Genet Metab 85:12-20. 2005
  6. ncbi request reprint Molybdenum cofactor deficiency: first prenatal genetic analysis
    J Reiss
    Institut für Humangenetik der Universität, Gottingen, Germany
    Prenat Diagn 19:386-8. 1999
  7. pmc 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
  8. ncbi request reprint 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
  9. ncbi request reprint Mutations in a polycistronic nuclear gene associated with molybdenum cofactor deficiency
    J Reiss
    Institut fur Humangenetik, Gottingen, Germany
    Nat Genet 20:51-3. 1998
  10. ncbi request reprint Genetics of molybdenum cofactor deficiency
    J Reiss
    Institut fur Humangenetik, Gottingen, Germany
    Hum Genet 106:157-63. 2000

Collaborators

Detail Information

Publications21

  1. ncbi request reprint Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH
    Jochen Reiss
    Institut für Humangenetik der Universitätskliniken Göttingen, Gottingen, Germany
    Hum Mutat 21:569-76. 2003
    ..A total of 32 different disease-causing mutations, including several common to more than one family, have been identified in molybdenum cofactor-deficient patients and their relatives...
  2. ncbi request reprint 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...
  3. doi request reprint Molybdenum cofactor deficiency: Mutations in GPHN, MOCS1, and MOCS2
    Jochen Reiss
    Institut fur Humangenetik, Universitatsmedizin Gottingen, Germany
    Hum Mutat 32:10-8. 2011
    ..For type A deficiency an effective substitution therapy has been described recently...
  4. pmc AAV-mediated gene therapy for metabolic diseases: dosage and reapplication studies in the molybdenum cofactor deficiency model
    Rita Hahnewald
    , , , Germany
    Genet Vaccines Ther 7:9. 2009
    ..However, exposition within this window does not trigger immunotolerance to the viral capsid, which limits rAAV-mediated refurbishment of the transgene to only one more application outside this permissive window...
  5. ncbi request reprint The pathogenesis of molybdenum cofactor deficiency, its delay by maternal clearance, and its expression pattern in microarray analysis
    Jochen Reiss
    Institut für Humangenetik der Universität Göttingen, Heinrich Düker Weg 12, 37073 Gottingen, Germany
    Mol Genet Metab 85:12-20. 2005
    ..This neuronal damage appears to be triggered by elevated sulfite levels and is ameliorated in affected embryos by maternal clearance...
  6. ncbi request reprint 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...
  7. pmc 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...
  8. ncbi request reprint 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...
  9. ncbi request reprint 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...
  10. ncbi request reprint 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...
  11. pmc 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...
  12. ncbi request reprint Molybdenum cofactor-deficient mice resemble the phenotype of human patients
    Heon Jin Lee
    Institut für Humangenetik der Universität Göttingen, Gottingen, Germany
    Hum Mol Genet 11:3309-17. 2002
    ..MOCS1(-/-) mice could be a suitable animal model for biochemical and/or genetic therapy approaches...
  13. ncbi request reprint Detection of human spermatid-specific transcripts in peripheral blood lymphocytes of males and females
    R Slomski
    Institut für Humangenetik der Universität, Gottingen, Federal Republic of Germany
    Hum Genet 87:307-10. 1991
    ..Sequence and restriction analyses of the corresponding fragments have confirmed that transcripts of proacrosin and protamine 2 are present in the lymphocytes not only of males, but also of adult females...
  14. ncbi request reprint 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...
  15. pmc 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
    ....
  16. ncbi request reprint A novel MOCS2 mutation reveals coordinated expression of the small and large subunit of molybdopterin synthase
    Rita Hahnewald
    Institut für Humangenetik der Universität Göttingen, Heinrich Düker Weg 12, 37073 Gottingen, Germany
    Mol Genet Metab 89:210-3. 2006
    ..This reveals new insights into the expression of this evolutionary ancient anabolic system...
  17. ncbi request reprint Rescue of lethal molybdenum cofactor deficiency by a biosynthetic precursor from Escherichia coli
    Gunter Schwarz
    Institut für Pflanzenbiologie der Technischen Universität Braunschweig, Germany
    Hum Mol Genet 13:1249-55. 2004
    ..Precursor Z-substituted mice reach adulthood and fertility. Biochemical analyses further suggest that the described treatment can lead to the alleviation of most symptoms associated with human Moco deficiency...
  18. ncbi request reprint Ten novel mutations in the molybdenum cofactor genes MOCS1 and MOCS2 and in vitro characterization of a MOCS2 mutation that abolishes the binding ability of molybdopterin synthase
    Silke Leimkuhler
    Institut für Biochemie und Biologie, Universitat Potsdam, 14476 Potsdam, Germany
    Hum Genet 117:565-70. 2005
    ..The mutation was expressed in vitro and was found to abolish the binding affinities of the large subunit of molybdopterin synthase (MOCS2B) for both precursor Z and the small subunit of molybdopterin synthase (MOCS2A)...
  19. ncbi request reprint Cranial ultrasound and chronological changes in molybdenum cofactor deficiency
    Mercedes Serrano
    Department of Pediatric Neurology, Hospital Sant Joan de Deu, Paseo de Sant Joan de Déu, 2 Esplugues de Llobregat, 08950 Barcelona, Spain
    Pediatr Radiol 37:1043-6. 2007
    ..Our report supports the utility of cranial US, a noninvasive bed-side technique, in the detection and follow-up of these rapidly changing lesions...
  20. ncbi request reprint The bicistronic MOCS1 gene has alternative start codons on two mutually exclusive exons
    Sigrid Gross-Hardt
    Institut für Medizinische Physik und Biophysik der Universität Münster, Robert Koch Strasse 31, Germany
    Mol Genet Metab 76:340-3. 2002
    ..All three forms can be found in eight different human tissues in a constant ratio, which excludes tissue specificity of the different isoforms...
  21. ncbi request reprint Possible association of mitochondrial transcription factor A (TFAM) genotype with sporadic Alzheimer disease
    Claudia Günther
    Department of Human Genetics, University Hospital Hamburg Eppendorf, Butenfeld 42, 22529 Hamburg, Germany
    Neurosci Lett 369:219-23. 2004
    ..The findings suggest that a TFAM haplotype containing rs1937 G (for S12) may be a moderate risk factor for AD...