Reiss J - Search Results

1

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. Sass JO, et al. Among authors: reiss j. Brain Dev. 2010 Aug;32(7):544-9. doi: 10.1016/j.braindev.2009.09.005. Epub 2009 Sep 29. Brain Dev. 2010. PMID: 19793632

2

A mild case of molybdenum cofactor deficiency defines an alternative route of MOCS1 protein maturation.

Mayr SJ, Sass JO, Vry J, Kirschner J, Mader I, Hövener JB, Reiss J, Santamaria-Araujo JA, Schwarz G, Grünert SC. Mayr SJ, et al. Among authors: reiss j. J Inherit Metab Dis. 2018 Mar;41(2):187-196. doi: 10.1007/s10545-018-0138-7. Epub 2018 Jan 24. J Inherit Metab Dis. 2018. PMID: 29368224

3

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

Lee HJ, Adham IM, Schwarz G, Kneussel M, Sass JO, Engel W, Reiss J. Lee HJ, et al. Among authors: reiss j. Hum Mol Genet. 2002 Dec 15;11(26):3309-17. doi: 10.1093/hmg/11.26.3309. Hum Mol Genet. 2002. PMID: 12471057

4

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

Reiss J, Bonin M, Schwegler H, Sass JO, Garattini E, Wagner S, Lee HJ, Engel W, Riess O, Schwarz G. Reiss J, et al. Mol Genet Metab. 2005 May;85(1):12-20. doi: 10.1016/j.ymgme.2005.01.008. Mol Genet Metab. 2005. PMID: 15862276

5

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

Schwarz G, Santamaria-Araujo JA, Wolf S, Lee HJ, Adham IM, Gröne HJ, Schwegler H, Sass JO, Otte T, Hänzelmann P, Mendel RR, Engel W, Reiss J. Schwarz G, et al. Among authors: reiss j. Hum Mol Genet. 2004 Jun 15;13(12):1249-55. doi: 10.1093/hmg/ddh136. Epub 2004 Apr 28. Hum Mol Genet. 2004. PMID: 15115759

6

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

Sass JO, Kishikawa M, Puttinger R, Reiss J, Erwa W, Shimizu A, Sperl W. Sass JO, et al. Among authors: reiss j. J Inherit Metab Dis. 2003;26(1):80-2. doi: 10.1023/a:1024091900547. J Inherit Metab Dis. 2003. PMID: 12872846 No abstract available.

7

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. Leimkühler S, et al. Among authors: reiss j. Hum Genet. 2005 Oct;117(6):565-70. doi: 10.1007/s00439-005-1341-9. Epub 2005 Jul 14. Hum Genet. 2005. PMID: 16021469

8

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

Reiss J, Johnson JL. Reiss J, et al. Hum Mutat. 2003 Jun;21(6):569-76. doi: 10.1002/humu.10223. Hum Mutat. 2003. PMID: 12754701 Review.

9

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. Reiss J, et al. Hum Genet. 1998 Dec;103(6):639-44. doi: 10.1007/s004390050884. Hum Genet. 1998. PMID: 9921896

10

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. Reiss J, et al. Am J Hum Genet. 2001 Jan;68(1):208-13. doi: 10.1086/316941. Epub 2000 Nov 28. Am J Hum Genet. 2001. PMID: 11095995 Free PMC article.

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