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Molybdenum cofactor deficiency.
Atwal PS, Scaglia F. Atwal PS, et al. Mol Genet Metab. 2016 Jan;117(1):1-4. doi: 10.1016/j.ymgme.2015.11.010. Epub 2015 Nov 25. Mol Genet Metab. 2016. PMID: 26653176 Review.
Molybdenum cofactor deficiency (MoCD) is a severe autosomal recessive inborn error of metabolism first described in 1978. It is characterized by a neonatal presentation of intractable seizures, feeding difficulties, severe developmental delay, microcephaly wi
Molybdenum cofactor deficiency (MoCD) is a severe autosomal recessive inborn error of metabolism first described in 197
Molybdenum Cofactor Deficiency in Humans.
Johannes L, Fu CY, Schwarz G. Johannes L, et al. Molecules. 2022 Oct 14;27(20):6896. doi: 10.3390/molecules27206896. Molecules. 2022. PMID: 36296488 Free PMC article. Review.
Molybdenum cofactor (Moco) deficiency (MoCD) is characterized by neonatal-onset myoclonic epileptic encephalopathy and dystonia with cerebral MRI changes similar to hypoxic-ischemic lesions. The molecular cause of the disease is the loss of sulfite
Molybdenum cofactor (Moco) deficiency (MoCD) is characterized by neonatal-onset myoclonic epileptic encephalopathy and
Isolated sulfite oxidase deficiency.
Claerhout H, Witters P, Régal L, Jansen K, Van Hoestenberghe MR, Breckpot J, Vermeersch P. Claerhout H, et al. J Inherit Metab Dis. 2018 Jan;41(1):101-108. doi: 10.1007/s10545-017-0089-4. Epub 2017 Oct 4. J Inherit Metab Dis. 2018. PMID: 28980090 Review.
Isolated sulfite oxidase deficiency (ISOD) is a life-threatening, autosomal recessive disease characterized by severe neurological impairment. As no long-term effective treatment is available, distinction from other treatable diseases, such as molybdenum
Isolated sulfite oxidase deficiency (ISOD) is a life-threatening, autosomal recessive disease characterized by severe n …
Molybdenum cofactor deficiency: Mutations in GPHN, MOCS1, and MOCS2.
Reiss J, Hahnewald R. Reiss J, et al. Hum Mutat. 2011 Jan;32(1):10-8. doi: 10.1002/humu.21390. Hum Mutat. 2011. PMID: 21031595 Review.
All molybdenum-containing enzymes other than the bacterial nitrogenase share an identical molybdenum cofactor (MoCo), which is synthesized via a conserved pathway in all organisms and therefore also is called "universal molybdenum cofactor." ... …
All molybdenum-containing enzymes other than the bacterial nitrogenase share an identical molybdenum cofactor (MoCo), w …
Molybdenum in human health and disease.
Schwarz G, Belaidi AA. Schwarz G, et al. Met Ions Life Sci. 2013;13:415-50. doi: 10.1007/978-94-007-7500-8_13. Met Ions Life Sci. 2013. PMID: 24470099 Review.
Four mammalian Mo-dependent enzymes are known, all of them harboring a pterin-based molybdenum cofactor (Moco) in their active site. In these enzymes, molybdenum catalyzes oxygen transfer reactions from or to substrates using water as oxygen donor or acceptor …
Four mammalian Mo-dependent enzymes are known, all of them harboring a pterin-based molybdenum cofactor (Moco) in their active …
Mutations associated with functional disorder of xanthine oxidoreductase and hereditary xanthinuria in humans.
Ichida K, Amaya Y, Okamoto K, Nishino T. Ichida K, et al. Int J Mol Sci. 2012 Nov 21;13(11):15475-95. doi: 10.3390/ijms131115475. Int J Mol Sci. 2012. PMID: 23203137 Free PMC article. Review.
Human diseases associated with genetically determined dysfunction of XOR are termed xanthinuria, because of the excretion of xanthine in urine. Xanthinuria is classified into two subtypes, type I and type II. Type I xanthinuria involves XOR deficiency
Human diseases associated with genetically determined dysfunction of XOR are termed xanthinuria, because of the excretion of xanthine in uri …
Evolutionary persistence of the molybdopyranopterin-containing sulfite oxidase protein fold.
Workun GJ, Moquin K, Rothery RA, Weiner JH. Workun GJ, et al. Microbiol Mol Biol Rev. 2008 Jun;72(2):228-48, table of contents. doi: 10.1128/MMBR.00041-07. Microbiol Mol Biol Rev. 2008. PMID: 18535145 Free PMC article. Review.
The importance of molybdoenzymes is exemplified both by the debilitating and fatal human diseases caused by their deficiency and by their persistence throughout evolution. Here, we show that the protein fold of the molybdopyranopterin-containing domain of sulfite
The importance of molybdoenzymes is exemplified both by the debilitating and fatal human diseases caused by their deficiency and by t …
Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.
Collardeau-Frachon S, Cordier MP, Rossi M, Guibaud L, Vianey-Saban C. Collardeau-Frachon S, et al. J Inherit Metab Dis. 2016 Sep;39(5):597-610. doi: 10.1007/s10545-016-9937-x. Epub 2016 Apr 22. J Inherit Metab Dis. 2016. PMID: 27106218 Review.
The following metabolic disorders encountered in fetuses are discussed: lysosomal storage diseases, peroxisomal disorders, cholesterol synthesis disorders, congenital disorders of glycosylation, glycogenosis type IV, mitochondrial respiratory chain disorders, transaldolase …
The following metabolic disorders encountered in fetuses are discussed: lysosomal storage diseases, peroxisomal disorders, cholesterol synth …
Elucidating the catalytic mechanism of sulfite oxidizing enzymes using structural, spectroscopic, and kinetic analyses.
Johnson-Winters K, Tollin G, Enemark JH. Johnson-Winters K, et al. Biochemistry. 2010 Aug 31;49(34):7242-54. doi: 10.1021/bi1008485. Biochemistry. 2010. PMID: 20666399 Free PMC article. Review.
Sulfite oxidizing enzymes (SOEs) are molybdenum cofactor-dependent enzymes that are found in plants, animals, and bacteria. ...In vertebrates, the proposed catalytic mechanism of SO involves two intramolecular one-electron transfer (IET) steps from the mol
Sulfite oxidizing enzymes (SOEs) are molybdenum cofactor-dependent enzymes that are found in plants, animals, and bacte