A mutation in the gene for the neurotransmitter receptor-clustering protein gephyrin causes a novel form of molybdenum cofactor deficiency

American Journal of Human Genetics

Volumn 68, Issue 1, 2001, Pages 208-213

  Reiss, Jochen ^a   Gross Hardt, Sigrid ^a   Christensen, Ernst ^b   Schmidt, Peter ^b   Mendel, Ralf R ^c   Schwarz, Günter ^c  

^a UNIVERSITY OF MÜNSTER   (Germany)

^b University of Copenhagen   (Denmark)

^c TECHNICAL UNIVERSITY OF BRAUNSCHWEIG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

4 AMINOBUTYRIC ACID; GEPHYRIN; GLYCINE; MOLYBDENUM; MOLYBDOPTERIN; NEUROTRANSMITTER RECEPTOR;

ARTICLE; CHILDHOOD MORTALITY; CONTROLLED STUDY; FATALITY; FIBROBLAST; GENE DELETION; GENE EXPRESSION; GENE MUTATION; GENETIC DISORDER; HUMAN; HUMAN CELL; MOLYBDENUM COFACTOR DEFICIENCY; NEUROLOGICAL COMPLICATION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; POSTSYNAPTIC MEMBRANE; PRECURSOR; PRIORITY JOURNAL; SEQUENCE HOMOLOGY;

EID: 0035166780     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/316941     Document Type: Article

References (28)

1. Hyperekplexia: Abnormal startle response due to glycine receptor mutations
2. The Aspergillus nidulans cnxF gene and its involvement in molybdopterin biosynthesis
3. Biochemical investigation of a child with molybdenum cofactor deficiency
4. Combined deficiency of xanthine oxidase and sulphite oxidase: A defect of molybdenum metabolism or transport?
5. Report on a new patient with combined deficiencies of sulphite oxidase and xanthine dehydrogenase due to molybdenum cofactor deficiency
6. 2 subunit and gephyrin
7. Molybdenum (VI) salts convert the xanthine oxidoreductase apoprotein into the active enzyme in mouse L929 fibroblastic cells
8. Dual requirement for gephyrin in glycine receptor clustering and molybdoenzyme activity
9. Physiological and genetic analyses leading to identification of a biochemical role for the moeA (molybdate metabolism) gene product of Escherichia coli
10. Prenatal diagnosis of molybdenum cofactor deficiency by assay of sulphite oxidase activity in chorionic villus samples
11. Molybdenum cofactor deficiency and isolated sulfite oxidase deficiency
12. The Drosophila molybdenum cofactor gene Cinnamon is homologous to three Escherichia coli cofactor proteins and to the rat protein gephyrin
13. Gephyrin antisense oligonucleotides prevent glycine receptor clustering in spinal neurons
14. Receptors, gephyrin and gephyrin-associated proteins: Novel insights into the assembly of inhibitory postsynaptic membrane specializations
15. Mutations in the molybdenum cofactor biosynthetic protein Cnx1G from Arabidopsis thaliana define functions for molybdopterin binding, molybdenum insertion, and molybdenum cofactor stabilization
16. Multiple molybdoenzyme deficiencies due to an inborn error of molybdenum cofactor metabolism: Two additional cases in a new family
17. In vitro formation of assimilatory reduced nicotinamide adenine dinucleotide phosphate: Nitrate reductase from a Neurospora mutant and a component of molybdenum-enzymes
18. Primary structure and alternative splice variants of gephyrin, a putative glycine receptor-tubulin linker protein
19. Genetics of molybdenum cofactor deficiency
20. Genomic structure and mutational spectrum of the bicistronic MOCS1 gene defective in molybdenum cofactor deficiency type A
21. Mutations in a polycistronic nuclear gene associated with molybdenum cofactor deficiency
22. The human molybdopterin synthase gene: Genomic structure and mutations in molybdenum cofactor deficiency type B
23. Molybdenum cofactor biosynthesis: The plant protein Cnx1 binds molybdopterin with high affinity
24. The human molybdopterin synthase gene: Identification of a bicistronic transcript with overlapping reading frames
25. Molybdenum cofactor biosynthesis: The Arabidopsis thaliana cDNA cnx1 encodes a multifunctional two-domain protein homologous to a mammalian neuroprotein, the insect protein Cinnamon and three Escherichia coli proteins
26. The neurotransmitter receptor-anchoring protein gephyrin reconstitutes molybdenum cofactor biosynthesis in bacteria, plants, and mammalian cells
27. Nitrate respiration in relation to facultative metabolism in Enterobacteria
28. Nitrate reductase in Escherichia coli K-12: Involvement of chlC, chlE, and chlG loci