Results 31 to 40 of about 116,948 (101)

Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH

, 2003
Molybdenum cofactor deficiency in humans results in the loss of the activity of molybdoenzymes sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase.
Reiss, Jochen, Johnson, J. L.
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Molybdenum cofactor deficiency type A:Prenatal monitoring using MRI [PDF]

, 2018
Molybdenum cofactor deficiency type A (MoCD-A) is an inborn error of metabolism presenting early after birth with severe seizures. Recently, experimental substitution treatment with cyclic pyranopterin monophosphate (cPMP) has become available.
Meiners, Linda, Francjan J. van Spronsen, Charlotte M.A. Lubout, Klasien A. Bergman, Veldman, Alex, Linda Meiners, Jan Jaap Erwich, Bergman, Klasien A, Guenter Schwarz, Lubout, Charlotte M A, Derks, Terry G J; id_orcid, Alex Veldman, Lunsing, Roelineke J, Roelineke J. Lunsing, Erwich, Jan Jaap, van Spronsen, Francjan J, Erwich, Jan Jaap; id_orcid, Schwarz, Guenter, Derks, Terry G J, Terry G.J. Derks   +19 more
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Drosophila Melanogaster as a Model for Molybdo-Flavoenzyme Mediated Protection against Chemical and Physical Stress [PDF]

Aldehyde oxidase (AO) and xanthine oxidoreductase (XOR) are molybdo-flavoenzymes (MFEs) involved in the oxidation of hundreds of endogenous and exogenous aldehydes and N-heterocyclic compounds many of which are drugs, vitamins and environmental ...
Al Salhen, Khaled S
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Molybdenum cofactor deficiency: Review of 12 cases (MoCD and review)

, 2013
Molybdenum cofactor deficiency is a rare inborn error of metabolism. The major clinical symptoms are intractable neonatal seizures, progressive encephalopathy, facial dysmorphic features and feeding difficulties.
YİŞ, ULUÇ, Topcu, Yasemin, Ichida, Kimiyoshi, Bayram, Erhan, Kurul, Semra Hiz, Cakmakci, HANDAN, Karakaya, Pakize   +6 more
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Mutations in a polycistronic nuclear gene associated with molybdenum cofactor deficiency

, 1998
Reiss J, Cohen N, Dorche C, et al. Mutations in a polycistronic nuclear gene associated with molybdenum cofactor deficiency. NATURE GENETICS. 1998;20(1):51-53.All molybdoenzymes other than nitrogenase require molyb-dopterin as a metal-binding cofactor(1).
Dierks, Thomas, Dorche, C, Cohen, N, Mandel, H, Reiss, J, Mendel, RR, Stallmeyer, B, Zabot, MT   +7 more
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Electron-transfer chemistry of the iron-molybdenum cofactor of nitrogenase: delocalized and localized reduced states of FeMoco which allow binding of carbon monoxide to iron and molybdenum.

, 2003
The electron-transfer chemistry of the isolated iron-molybdenum cofactor of nitrogenase (FeMoco) has been studied by electrochemical and spectroelectrochemical methods.
Kylie A. Vincent, Carol A. Gormal, Christopher J. Pickett, Barry E. Smith, Stephen P. Best, Saad K. Ibrahim   +5 more
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A Study of Mo(4+)Quinoxalyl-Dithiolenes as Models for the Non-Innocent Pyranopterin in the Molybdenum Cofactor [PDF]

, 2011
A model system for the molybdenum cofactor has been developed that illustrates the noninnocent behavior of an N-heterocycle appended to a dithiolene chelate on molybdenum.
Matz, Kelly G., Nieter Burgmayer, Sharon J., Kirk, Martin L., Martin L. Kirk, Sharon J. Nieter Burgmayer, Mte, Regina P., Rothstein, Rebecca, Regina P. Mtei, Kelly G. Matz, Rebecca Rothstein   +9 more
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ModE-dependent molybdate regulation of the molybdenum cofactor operon moa in Escherichia coli

, 2000
Andersson LA, McNairn E, Lübke T, Pau RN, Boxer DH. ModE-dependent molybdate regulation of the molybdenum cofactor operon moa in Escherichia coli. Journal of Bacteriology.
Boxer, David H., Lisa A. Anderson, Andersson, Lisa A., Lübke, Torben ; https://orcid.org/, Torben Leubke, Elizabeth McNairn, Pau, Richard N., David H. Boxer, McNairn, Elizabeth, Richard N. Pau   +9 more
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Investigation of molybdenum cofactor deficiency due to MOCS2 deficiency in a newborn baby

, 2015
Background: Molybdenum cofactor deficiency (MOCD) is a severe autosomal recessive neonatal metabolic disease that causes seizures and death or severe brain damage.
Allgood, Catherine (R17910), Edwards, Matthew (R16367), Chin, Raymond (R17897), Schwarz, Guenter, Whitehall, John (R15925), Santamaria, Jose A., Roeper, Juliane, Wong, Flora   +7 more
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Molybdenum cofactor deficiency: Clinical features in a Turkish patient

, 2007
The molybdenum cofactor is. essential for the function of sulphite oxidase, xanthine dehydrogenase, and aldehyde oxidase enzymes. Molybdenum cofactor deficiency (MoCD) is a fatal disease resulting in severe neurological damage and death in early ...
Ichida, Kimiyoshi, Kumandas, Sefer, ÇAĞLAYAN, AHMET OKAY, Gumus, Hakan, Per, Huseyin   +4 more
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