(Q24307832)

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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

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scholarly article

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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 (English)

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Molybdenum cofactor synthesis 1

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GOA release 2020-03-11

Mo-molybdopterin cofactor biosynthetic process

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GOA release 2020-03-11

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Silke Leimkühler

1

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9

object named as

Rita Hahnewald

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author name string

Mathilde Charcosset

2

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Philippe Latour

3

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Claude Dorche

4

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Soledad Kleppe

5

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Fernando Scaglia

6

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Irmina Szymczak

7

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Petra Schupp

8

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Jochen Reiss

10

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language of work or name

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publication date

October 2005

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117

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6

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565-70

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Rescue of lethal molybdenum cofactor deficiency by a biosynthetic precursor from Escherichia coli

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https://pubmed.ncbi.nlm.nih.gov/16021469

12 December 2020

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inferred from PubMed ID database lookup

Functionality of alternative splice forms of the first enzymes involved in human molybdenum cofactor biosynthesis

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https://pubmed.ncbi.nlm.nih.gov/16021469

12 December 2020

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Mutations in the molybdenum cofactor biosynthetic genesMOCS1, MOCS2, andGEPH

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https://pubmed.ncbi.nlm.nih.gov/16021469

12 December 2020

based on heuristic

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Genomic structure and mutational spectrum of the bicistronic MOCS1 gene defective in molybdenum cofactor deficiency type A

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https://pubmed.ncbi.nlm.nih.gov/16021469

12 December 2020

based on heuristic

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Molybdopterin synthase mutations in a mild case of molybdenum cofactor deficiency

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https://pubmed.ncbi.nlm.nih.gov/16021469

12 December 2020

based on heuristic

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Diverse splicing mechanisms fuse the evolutionarily conserved bicistronic MOCS1A and MOCS1B open reading frames

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https://pubmed.ncbi.nlm.nih.gov/16021469

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The pathogenesis of molybdenum cofactor deficiency, its delay by maternal clearance, and its expression pattern in microarray analysis

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https://pubmed.ncbi.nlm.nih.gov/16021469

12 December 2020

based on heuristic

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Oligonucleotide-mediated gene repair at DNA level: the potential applications for gene therapy

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https://pubmed.ncbi.nlm.nih.gov/16021469

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human molybdenum cofactor deficiency

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https://pubmed.ncbi.nlm.nih.gov/16021469

12 December 2020

based on heuristic

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Comparison of nitrate reductase mutants of Escherichia coli selected by alternative procedures

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https://pubmed.ncbi.nlm.nih.gov/16021469

12 December 2020

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Mutations in a polycistronic nuclear gene associated with molybdenum cofactor deficiency

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https://pubmed.ncbi.nlm.nih.gov/16021469

12 December 2020

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Mechanistic Studies of Human Molybdopterin Synthase Reaction and Characterization of Mutants Identified in Group B Patients of Molybdenum Cofactor Deficiency

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https://pubmed.ncbi.nlm.nih.gov/16021469

12 December 2020

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The bicistronic MOCS1 gene has alternative start codons on two mutually exclusive exons

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https://pubmed.ncbi.nlm.nih.gov/16021469

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel stop codon mutation (X465Y) in the argininosuccinate lyase gene in a patient with argininosuccinic aciduria

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https://pubmed.ncbi.nlm.nih.gov/16021469

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetics of molybdenum cofactor deficiency

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https://pubmed.ncbi.nlm.nih.gov/16021469

12 December 2020

based on heuristic

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Strand bias in oligonucleotide-mediated dystrophin gene editing

1 reference

https://pubmed.ncbi.nlm.nih.gov/16021469

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Renal amyloidosis caused by a novel stop-codon mutation in the apolipoprotein A-II gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/16021469

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16021469

12 December 2020

based on heuristic

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Investigation of the early steps of molybdopterin biosynthesis in Escherichia coli through the use of in vivo labeling studies

1 reference

https://pubmed.ncbi.nlm.nih.gov/16021469

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type B

1 reference

https://pubmed.ncbi.nlm.nih.gov/16021469

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sulfite-mediated oxidative stress in kidney cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/16021469

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A mechanism of sulfite neurotoxicity: direct inhibition of glutamate dehydrogenase

1 reference

https://pubmed.ncbi.nlm.nih.gov/16021469

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The neuronal toxicity of sulfite plus peroxynitrite is enhanced by glutathione depletion: implications for Parkinson's disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/16021469

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human molybdopterin synthase gene: identification of a bicistronic transcript with overlapping reading frames

1 reference

https://pubmed.ncbi.nlm.nih.gov/16021469

12 December 2020

based on heuristic

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Initial sequencing and analysis of the human genome

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https://pubmed.ncbi.nlm.nih.gov/16021469

12 December 2020

based on heuristic

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10.1007/S00439-005-1341-9

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