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Items: 1 to 20 of 145

1.

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.

Leimkühler S, Charcosset M, Latour P, Dorche C, Kleppe S, Scaglia F, Szymczak I, Schupp P, Hahnewald R, Reiss J.

Hum Genet. 2005 Oct;117(6):565-70. Epub 2005 Jul 14.

PMID:
16021469
2.

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

Reiss J, Johnson JL.

Hum Mutat. 2003 Jun;21(6):569-76. Review.

PMID:
12754701
3.

Mechanistic studies of human molybdopterin synthase reaction and characterization of mutants identified in group B patients of molybdenum cofactor deficiency.

Leimkuhler S, Freuer A, Araujo JA, Rajagopalan KV, Mendel RR.

J Biol Chem. 2003 Jul 11;278(28):26127-34. Epub 2003 May 5.

4.

A Turkish case with molybdenum cofactor deficiency.

Ichida K, Aydin HI, Hosoyamada M, Kalkanoglu HS, Dursun A, Ohno I, Coskun T, Tokatli A, Shibasaki T, Hosoya T.

Nucleosides Nucleotides Nucleic Acids. 2006;25(9-11):1087-91.

PMID:
17065069
5.

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

Hänzelmann P, Schwarz G, Mendel RR.

J Biol Chem. 2002 May 24;277(21):18303-12. Epub 2002 Mar 12.

6.

Genetics of molybdenum cofactor deficiency.

Reiss J.

Hum Genet. 2000 Feb;106(2):157-63. Review.

PMID:
10746556
7.

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

Reiss J, Christensen E, Kurlemann G, Zabot MT, Dorche C.

Hum Genet. 1998 Dec;103(6):639-44.

PMID:
9921896
8.
9.

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

Reiss J, Hahnewald R.

Hum Mutat. 2011 Jan;32(1):10-8. doi: 10.1002/humu.21390. Review.

PMID:
21031595
10.

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

Reiss J, Dorche C, Stallmeyer B, Mendel RR, Cohen N, Zabot MT.

Am J Hum Genet. 1999 Mar;64(3):706-11.

11.
12.

Molybdenum cofactor deficiency: clinical features in a Turkish patient.

Per H, Gümüş H, Ichida K, Cağlayan O, Kumandaş S.

Brain Dev. 2007 Jul;29(6):365-8. Epub 2006 Dec 8.

PMID:
17158010
13.

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

Sass JO, Gunduz A, Araujo Rodrigues Funayama C, Korkmaz B, Dantas Pinto KG, Tuysuz B, Yanasse Dos Santos L, Taskiran E, de Fátima Turcato M, Lam CW, Reiss J, Walter M, Yalcinkaya C, Camelo Junior JS.

Brain Dev. 2010 Aug;32(7):544-9. doi: 10.1016/j.braindev.2009.09.005. Epub 2009 Sep 29.

PMID:
19793632
14.

Maternal uniparental isodisomy is responsible for serious molybdenum cofactor deficiency.

Gümüş H, Ghesquiere S, Per H, Kondolot M, Ichida K, Poyrazoğlu G, Kumandaş S, Engelen J, Dundar M, Cağlayan AO.

Dev Med Child Neurol. 2010 Sep;52(9):868-72. doi: 10.1111/j.1469-8749.2010.03724.x. Epub 2010 Jun 22.

15.

Mouse model for molybdenum cofactor deficiency type B recapitulates the phenotype observed in molybdenum cofactor deficient patients.

Jakubiczka-Smorag J, Santamaria-Araujo JA, Metz I, Kumar A, Hakroush S, Brueck W, Schwarz G, Burfeind P, Reiss J, Smorag L.

Hum Genet. 2016 Jul;135(7):813-26. doi: 10.1007/s00439-016-1676-4. Epub 2016 May 2.

PMID:
27138983
16.

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

Reiss J, Gross-Hardt S, Christensen E, Schmidt P, Mendel RR, Schwarz G.

Am J Hum Genet. 2001 Jan;68(1):208-13. Epub 2000 Nov 28.

17.

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

Hahnewald R, Leimkühler S, Vilaseca A, Acquaviva-Bourdain C, Lenz U, Reiss J.

Mol Genet Metab. 2006 Nov;89(3):210-3. Epub 2006 Jun 5.

PMID:
16737835
18.

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

Arenas M, Fairbanks LD, Vijayakumar K, Carr L, Escuredo E, Marinaki AM.

J Inherit Metab Dis. 2009 Aug;32(4):560-9. doi: 10.1007/s10545-009-1151-7. Epub 2009 Jun 20.

PMID:
19544009
19.

Molybdopterin synthase mutations in a mild case of molybdenum cofactor deficiency.

Johnson JL, Coyne KE, Rajagopalan KV, Van Hove JL, Mackay M, Pitt J, Boneh A.

Am J Med Genet. 2001 Nov 22;104(2):169-73.

PMID:
11746050
20.

Molybdenum cofactor-deficient mice resemble the phenotype of human patients.

Lee HJ, Adham IM, Schwarz G, Kneussel M, Sass JO, Engel W, Reiss J.

Hum Mol Genet. 2002 Dec 15;11(26):3309-17.

PMID:
12471057

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