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Molecular Genetics and Metabolism|September 5, 2002
The bicistronic MOCS1 gene has alternative start codons on two mutually exclusive exonsSigrid Gross-Hardt, Jochen ReissHuman Genetics|February 28, 2019
Molybdenum cofactor deficiency type B knock-in mouse models carrying patient-identical mutations and their rescue by singular AAV injectionsJochen ReissHuman Mutation|October 30, 2010
Molybdenum cofactor deficiency: Mutations in GPHN, MOCS1, and MOCS2Jochen Reiss, Rita HahnewaldHuman Mutation|May 20, 2003
Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPHJochen Reiss, Jean L JohnsonGenetic Vaccines and Therapy|June 23, 2009
AAV-mediated gene therapy for metabolic diseases: dosage and reapplication studies in the molybdenum cofactor deficiency modelRita Hahnewald, Waja Wegner, Jochen ReissMolecular Genetics and Metabolism|June 2, 2006
A novel MOCS2 mutation reveals coordinated expression of the small and large subunit of molybdopterin synthaseRita Hahnewald, Silke Leimkühler, Antonia Vilaseca, et al.Human Molecular Genetics|December 10, 2002
Molybdenum cofactor-deficient mice resemble the phenotype of human patientsHeon-Jin Lee, Ibrahim M Adham, Günter Schwarz, et al.Molecular Genetics & Genomic Medicine|January 3, 2019
Functional analysis of the p.[Arg74Trp;Val201Met;Asp1270Asn]/p.Phe508del CFTR mutation genotype in human native colonSylvia Schucht, Rebecca Minso, Christiane Lex, et al.Human Genetics|July 16, 2005
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 synthaseSilke Leimkühler, Mathilde Charcosset, Philippe Latour, et al.Molecular Genetics and Metabolism|May 3, 2005
The pathogenesis of molybdenum cofactor deficiency, its delay by maternal clearance, and its expression pattern in microarray analysisJochen Reiss, Michael Bonin, Herbert Schwegler, et al.Pageof 2