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Items: 17


Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population.

Megahed H, Nicouleau M, Barcia G, Medina-Cano D, Siquier-Pernet K, Bole-Feysot C, Parisot M, Masson C, Nitschké P, Rio M, Bahi-Buisson N, Desguerre I, Munnich A, Boddaert N, Colleaux L, Cantagrel V.

Orphanet J Rare Dis. 2016 May 4;11(1):57. doi: 10.1186/s13023-016-0436-9.


When Is a Rare Disease Not so Rare? Implications for Medical Nutrition Therapy.

Bland J.

Integr Med (Encinitas). 2016 Mar;15(1):14-6. No abstract available.


Xanthine Oxidoreductase Function Contributes to Normal Wound Healing.

Madigan MC, McEnaney RM, Shukla AJ, Hong G, Kelley EE, Tarpey MM, Gladwin M, Zuckerbraun BS, Tzeng E.

Mol Med. 2015 Apr 14;21:313-22. doi: 10.2119/molmed.2014.00191.


Abnormal gephyrin immunoreactivity associated with Alzheimer disease pathologic changes.

Hales CM, Rees H, Seyfried NT, Dammer EB, Duong DM, Gearing M, Montine TJ, Troncoso JC, Thambisetty M, Levey AI, Lah JJ, Wingo TS.

J Neuropathol Exp Neurol. 2013 Nov;72(11):1009-15. doi: 10.1097/01.jnen.0000435847.59828.db.


Identification of potential biomarkers from microarray experiments using multiple criteria optimization.

Sánchez-Peña ML, Isaza CE, Pérez-Morales J, Rodríguez-Padilla C, Castro JM, Cabrera-Ríos M.

Cancer Med. 2013 Apr;2(2):253-65. doi: 10.1002/cam4.69. Epub 2013 Feb 27.


Identification of a cyclic nucleotide as a cryptic intermediate in molybdenum cofactor biosynthesis.

Hover BM, Loksztejn A, Ribeiro AA, Yokoyama K.

J Am Chem Soc. 2013 May 8;135(18):7019-32. doi: 10.1021/ja401781t. Epub 2013 Apr 29.


Molybdenum cofactor deficiency: a new HPLC method for fast quantification of s-sulfocysteine in urine and serum.

Belaidi AA, Arjune S, Santamaria-Araujo JA, Sass JO, Schwarz G.

JIMD Rep. 2012;5:35-43. doi: 10.1007/8904_2011_89. Epub 2011 Dec 17.


Overexpression, purification, crystallization and preliminary X-ray analysis of putative molybdenum cofactor biosynthesis protein C (MoaC2) from Mycobacterium tuberculosis H37Rv.

Srivastava S, Srivastava VK, Arora A, Pratap JV.

Acta Crystallogr Sect F Struct Biol Cryst Commun. 2012 Jun 1;68(Pt 6):687-91. doi: 10.1107/S174430911201665X. Epub 2012 May 23.


Comparative Genomics and Evolution of Molybdenum Utilization.

Zhang Y, Rump S, Gladyshev VN.

Coord Chem Rev. 2011 May;255(9-10):1206-1217.


Algae and humans share a molybdate transporter.

Tejada-Jiménez M, Galván A, Fernández E.

Proc Natl Acad Sci U S A. 2011 Apr 19;108(16):6420-5. doi: 10.1073/pnas.1100700108. Epub 2011 Apr 4.


Chronological changes of the amplitude-integrated EEG in a neonate with molybdenum cofactor deficiency.

Sie SD, de Jonge RC, Blom HJ, Mulder MF, Reiss J, Vermeulen RJ, Peeters-Scholte CM.

J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S401-7. doi: 10.1007/s10545-010-9198-z. Epub 2010 Sep 24.


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

Hahnewald R, Wegner W, Reiss J.

Genet Vaccines Ther. 2009 Jun 18;7:9. doi: 10.1186/1479-0556-7-9.


Urm1 at the crossroad of modifications. 'Protein Modifications: Beyond the Usual Suspects' Review Series.

Pedrioli PG, Leidel S, Hofmann K.

EMBO Rep. 2008 Dec;9(12):1196-202. doi: 10.1038/embor.2008.209. Review.


A high-affinity molybdate transporter in eukaryotes.

Tejada-Jiménez M, Llamas A, Sanz-Luque E, Galván A, Fernández E.

Proc Natl Acad Sci U S A. 2007 Dec 11;104(50):20126-30. Epub 2007 Dec 5.


Binding of 5'-GTP to the C-terminal FeS cluster of the radical S-adenosylmethionine enzyme MoaA provides insights into its mechanism.

Hänzelmann P, Schindelin H.

Proc Natl Acad Sci U S A. 2006 May 2;103(18):6829-34. Epub 2006 Apr 21.


Crystal structure of the S-adenosylmethionine-dependent enzyme MoaA and its implications for molybdenum cofactor deficiency in humans.

Hänzelmann P, Schindelin H.

Proc Natl Acad Sci U S A. 2004 Aug 31;101(35):12870-5. Epub 2004 Aug 18.

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