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

Initial sequencing and analysis of the human genome

Eric S. Lander, Lauren Linton, Bruce W. Birren et al. · Nature · 2001 · 24.6K citations · Full text

Life Sciences, Genetics, Human Development +10

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: Causes and consequences

Michael Krawczak, Jochen Reiss, D.N. Cooper · Human Genetics · 1992 · 1.4K citations

Life Sciences, Genetics, Molecular Genetics +17

Investigation of the Early Steps of Molybdopterin Biosynthesis in Escherichia coli through the Use of in Vivo Labeling Studies

Margot M. Wuebbens, K.V. Rajagopalan · Journal of Biological Chemistry · 1995 · 148 citations · Full text

Life Sciences, Biochemistry, Microbiology +11

A Mechanism of Sulfite Neurotoxicity

Xin Zhang, Annette Shoba Vincent, Barry Halliwell et al. · Journal of Biological Chemistry · 2004 · 140 citations · Full text

Life Sciences, Biochemistry, Neuroscience +17

Mutations in a polycistronic nuclear gene associated with molybdenum cofactor deficiency

Jochen Reiss, Nadine Cohen, C. Dorche et al. · Nature Genetics · 1998 · 114 citations

Life Sciences, Genetics, Molecular Genetics +7