(Q37804739)

23 August 2017

title

Molybdenum cofactor deficiency: Mutations in GPHN, MOCS1, and MOCS2. (English)

1 reference

molybdenum cofactor deficiency

23 August 2017

1 reference

1 reference

Jochen Reiss

1

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23 August 2017

Rita Hahnewald

series ordinal

2

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23 August 2017

publication date

1 January 2011

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23 August 2017

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23 August 2017

volume

32

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23 August 2017

issue

1

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23 August 2017

page(s)

10-18

1 reference

AAV-mediated gene therapy for metabolic diseases: dosage and reapplication studies in the molybdenum cofactor deficiency model

23 August 2017

cites work

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S-sulfo-cysteine is an endogenous amino acid in neonatal rat brain but an unlikely mediator of cysteine neurotoxicity

21 January 2018

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7 January 2021

An unusual genetic variant in the MOCS1 gene leads to complete missplicing of an alternatively spliced exon in a patient with molybdenum cofactor deficiency.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21390

7 January 2021

Molybdenum cofactor deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21390

7 January 2021

Biochemical investigation of a child with molybdenum cofactor deficiency

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https://api.crossref.org/works/10.1002%2FHUMU.21390

7 January 2021

Analysis of tumors arising in male B6C3F1 mice with and without AAV vector delivery to liver.

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https://api.crossref.org/works/10.1002%2FHUMU.21390

7 January 2021

False negative thiosulphate screening test in a case of molybdenum cofactor deficiency

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https://api.crossref.org/works/10.1002%2FHUMU.21390

7 January 2021

The copper-molybdenum antagonism in ruminants. I. The formation of thiomolybdates in animal rumen

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https://api.crossref.org/works/10.1002%2FHUMU.21390

7 January 2021

Observed incidence of tumorigenesis in long-term rodent studies of rAAV vectors.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21390

7 January 2021

Combined deficiency of xanthine oxidase and sulphite oxidase: A defect of molybdenum metabolism or transport?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21390

7 January 2021

Report on a new patient with combined deficiencies of sulphite oxidase and xanthine dehydrogenase due to molybdenum cofactor deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21390

7 January 2021

Dual requirement for gephyrin in glycine receptor clustering and molybdoenzyme activity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21390

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21390

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21390

7 January 2021

Maternal uniparental isodisomy is responsible for serious molybdenum cofactor deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21390

7 January 2021

A novel MOCS2 mutation reveals coordinated expression of the small and large subunit of molybdopterin synthase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21390

7 January 2021

Characterization of MOCS1A, an oxygen-sensitive iron-sulfur protein involved in human molybdenum cofactor biosynthesis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21390

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21390

7 January 2021

Identification of the missing component in the mitochondrial benzamidoxime prodrug-converting system as a novel molybdenum enzyme

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21390

7 January 2021

Molybdenum cofactor deficiency-phenotypic variability in a family with a late-onset variant.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21390

7 January 2021

Identification of two mutations in human xanthine dehydrogenase gene responsible for classical type I xanthinuria

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21390

7 January 2021

A Turkish case with molybdenum cofactor deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21390

7 January 2021

Mutation of human molybdenum cofactor sulfurase gene is responsible for classical xanthinuria type II

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21390

7 January 2021

Prenatal diagnosis of molybdenum cofactor deficiency and isolated sulfite oxidase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21390

7 January 2021

Molybdopterin synthase mutations in a mild case of molybdenum cofactor deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21390

7 January 2021

Prenatal diagnosis of molybdenum cofactor deficiency by assay of sulphite oxidase activity in chorionic villus samples

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21390

7 January 2021

Inborn errors of molybdenum metabolism: combined deficiencies of sulfite oxidase and xanthine dehydrogenase in a patient lacking the molybdenum cofactor

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21390

7 January 2021

Molybdenum cofactor biosynthesis in humans. Identification of two complementation groups of cofactor-deficient patients and preliminary characterization of a diffusible molybdopterin precursor

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21390

7 January 2021

Gephyrin antisense oligonucleotides prevent glycine receptor clustering in spinal neurons.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21390

7 January 2021

How do eucaryotic ribosomes select initiation regions in messenger RNA?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21390

7 January 2021

Long-term rescue of a lethal inherited disease by adeno-associated virus-mediated gene transfer in a mouse model of molybdenum-cofactor deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21390

7 January 2021

Structure of the molybdopterin-bound Cnx1G domain links molybdenum and copper metabolism.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21390

7 January 2021

Molybdenum cofactor-deficient mice resemble the phenotype of human patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21390

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21390

7 January 2021

The Mechanism of nucleotide-assisted molybdenum insertion into molybdopterin. A novel route toward metal cofactor assembly.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21390

7 January 2021

Molybdenum cofactor deficiency presenting as neonatal hyperekplexia: a clinical, biochemical and genetic study

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21390

7 January 2021

Evidence for the physiological role of a rhodanese-like protein for the biosynthesis of the molybdenum cofactor in humans

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21390

7 January 2021

Defective molybdopterin biosynthesis: clinical heterogeneity associated with molybdenum cofactor deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21390

7 January 2021

Molybdenum intake influences molybdenum kinetics in men

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21390

7 January 2021

Spherophakia associated with molybdenum cofactor deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21390

7 January 2021

A Common Co-Factor for Nitrate Reductase and Xanthine Dehydrogenase which also Regulates the Synthesis of Nitrate Reductase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21390

7 January 2021

Molybdenum cofactor deficiency: clinical features in a Turkish patient

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21390

7 January 2021

Molybdenum cofactor deficiency associated with Dandy-Walker malformation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21390

7 January 2021

Primary structure and alternative splice variants of gephyrin, a putative glycine receptor-tubulin linker protein

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21390

7 January 2021

Molybdenum: an essential trace element in human nutrition

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21390

7 January 2021

Genetics of molybdenum cofactor deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21390

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21390

7 January 2021

Molybdenum cofactor deficiency: first prenatal genetic analysis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21390

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21390

7 January 2021

Mutations in a polycistronic nuclear gene associated with molybdenum cofactor deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21390

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21390

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21390

7 January 2021

Mutations in the molybdenum cofactor biosynthetic genesMOCS1, MOCS2, andGEPH

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21390

7 January 2021

New insights into the neuropathogenesis of molybdenum cofactor deficiency.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21390

7 January 2021

In vivo brain proton MR spectroscopy in a case of molybdenum cofactor deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21390

7 January 2021

Functional deficiencies of sulfite oxidase: Differential diagnoses in neonates presenting with intractable seizures and cystic encephalomalacia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21390

7 January 2021

Hypohomocysteinaemia and highly increased proportion of S-sulfonated plasma transthyretin in molybdenum cofactor deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21390

7 January 2021

Molybdenum-cofactor deficiency: CT and MR findings

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21390

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21390

7 January 2021

Cranial ultrasound and chronological changes in molybdenum cofactor deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21390

7 January 2021

Proposed nomenclature for the genes involved in molybdenum metabolism in Escherichia coli and Salmonella typhimurium

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21390

7 January 2021

Molybdenum-cofactor deficiency: an easily missed cause of neonatal convulsions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21390

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21390

7 January 2021

Molybdenum co-factor 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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21390

7 January 2021

The neurotransmitter receptor-anchoring protein gephyrin reconstitutes molybdenum cofactor biosynthesis in bacteria, plants, and mammalian cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21390

7 January 2021

Isolated sulfite oxidase deficiency: a case report with a novel mutation and review of the literature

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21390

7 January 2021

Molybdenum cofactor deficiency presenting with severe metabolic acidosis and intracranial hemorrhage

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21390

7 January 2021

A novel role for Arabidopsis mitochondrial ABC transporter ATM3 in molybdenum cofactor biosynthesis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21390

7 January 2021

Eukaryotic molybdopterin synthase. Biochemical and molecular studies of Aspergillus nidulans cnxG and cnxH mutants

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21390

7 January 2021

The detection of molybdenum cofactor deficiency: clinical symptomatology and urinary metabolite profile

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21390

7 January 2021

Successful treatment of molybdenum cofactor deficiency type A with cPMP.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21390

7 January 2021

A mechanism of sulfite neurotoxicity: direct inhibition of glutamate dehydrogenase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21390

7 January 2021

Identifiers

DOI

10.1002/HUMU.21390

1 reference

23 August 2017

1 reference