Wanders RJ - Search Results

1

Standardization of complementation grouping of peroxisome-deficient disorders and the second Zellweger patient with peroxisomal assembly factor-1 (PAF-1) defect.

Shimozawa N, Suzuki Y, Orii T, Moser A, Moser HW, Wanders RJ. Shimozawa N, et al. Among authors: wanders rj. Am J Hum Genet. 1993 Apr;52(4):843-4. Am J Hum Genet. 1993. PMID: 7681622 Free PMC article. No abstract available.

2

Identification of a new complementation group of the peroxisome biogenesis disorders and PEX14 as the mutated gene.

Shimozawa N, Tsukamoto T, Nagase T, Takemoto Y, Koyama N, Suzuki Y, Komori M, Osumi T, Jeannette G, Wanders RJ, Kondo N. Shimozawa N, et al. Among authors: wanders rj. Hum Mutat. 2004 Jun;23(6):552-8. doi: 10.1002/humu.20032. Hum Mutat. 2004. PMID: 15146459

3

Reinvestigation of peroxisomal 3-ketoacyl-CoA thiolase deficiency: identification of the true defect at the level of d-bifunctional protein.

Ferdinandusse S, van Grunsven EG, Oostheim W, Denis S, Hogenhout EM, IJlst L, van Roermund CW, Waterham HR, Goldfischer S, Wanders RJ. Ferdinandusse S, et al. Among authors: wanders rj. Am J Hum Genet. 2002 Jun;70(6):1589-93. doi: 10.1086/340970. Epub 2002 Apr 23. Am J Hum Genet. 2002. PMID: 11992265 Free PMC article.

4

Defective PEX gene products correlate with the protein import, biochemical abnormalities, and phenotypic heterogeneity in peroxisome biogenesis disorders.

Shimozawa N, Imamura A, Zhang Z, Suzuki Y, Orii T, Tsukamoto T, Osumi T, Fujiki Y, Wanders RJ, Besley G, Kondo N. Shimozawa N, et al. Among authors: wanders rj. J Med Genet. 1999 Oct;36(10):779-81. doi: 10.1136/jmg.36.10.779. J Med Genet. 1999. PMID: 10528859 Free PMC article.

5

PEX13 is mutated in complementation group 13 of the peroxisome-biogenesis disorders.

Liu Y, Björkman J, Urquhart A, Wanders RJ, Crane DI, Gould SJ. Liu Y, et al. Among authors: wanders rj. Am J Hum Genet. 1999 Sep;65(3):621-34. doi: 10.1086/302534. Am J Hum Genet. 1999. PMID: 10441568 Free PMC article.

6

Isolation, characterization and mutation analysis of PEX13-defective Chinese hamster ovary cell mutants.

Toyama R, Mukai S, Itagaki A, Tamura S, Shimozawa N, Suzuki Y, Kondo N, Wanders RJ, Fujiki Y. Toyama R, et al. Among authors: wanders rj. Hum Mol Genet. 1999 Sep;8(9):1673-81. doi: 10.1093/hmg/8.9.1673. Hum Mol Genet. 1999. PMID: 10441330

7

Disorders of peroxisome biogenesis due to mutations in PEX1: phenotypes and PEX1 protein levels.

Walter C, Gootjes J, Mooijer PA, Portsteffen H, Klein C, Waterham HR, Barth PG, Epplen JT, Kunau WH, Wanders RJ, Dodt G. Walter C, et al. Among authors: wanders rj. Am J Hum Genet. 2001 Jul;69(1):35-48. doi: 10.1086/321265. Epub 2001 Jun 1. Am J Hum Genet. 2001. PMID: 11389485 Free PMC article.

8

Isolated 2-methylbutyrylglycinuria caused by short/branched-chain acyl-CoA dehydrogenase deficiency: identification of a new enzyme defect, resolution of its molecular basis, and evidence for distinct acyl-CoA dehydrogenases in isoleucine and valine metabolism.

Andresen BS, Christensen E, Corydon TJ, Bross P, Pilgaard B, Wanders RJ, Ruiter JP, Simonsen H, Winter V, Knudsen I, Schroeder LD, Gregersen N, Skovby F. Andresen BS, et al. Among authors: wanders rj. Am J Hum Genet. 2000 Nov;67(5):1095-103. doi: 10.1086/303105. Epub 2000 Sep 29. Am J Hum Genet. 2000. PMID: 11013134 Free PMC article.

9

Genetic basis of peroxisome-assembly mutants of humans, Chinese hamster ovary cells, and yeast: identification of a new complementation group of peroxisome-biogenesis disorders apparently lacking peroxisomal-membrane ghosts.

Shimozawa N, Suzuki Y, Zhang Z, Imamura A, Kondo N, Kinoshita N, Fujiki Y, Tsukamoto T, Osumi T, Imanaka T, Orii T, Beemer F, Mooijer P, Dekker C, Wanders RJ. Shimozawa N, et al. Among authors: wanders rj. Am J Hum Genet. 1998 Dec;63(6):1898-903. doi: 10.1086/302142. Am J Hum Genet. 1998. PMID: 9837841 Free PMC article. No abstract available.

10

Molecular characterization of mitochondrial trifunctional protein deficiency: formation of the enzyme complex is important for stabilization of both alpha- and beta-subunits.

Ushikubo S, Aoyama T, Kamijo T, Wanders RJ, Rinaldo P, Vockley J, Hashimoto T. Ushikubo S, et al. Among authors: wanders rj. Am J Hum Genet. 1996 May;58(5):979-88. Am J Hum Genet. 1996. PMID: 8651282 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

Search Page

Search Results