The world's first wiki where authorship really matters (Nature Genetics, 2008). Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts. Search thousands of articles and collaborate with scientists around the globe.

wikigene or wiki gene protein drug chemical gene disease author authorship tracking collaborative publishing evolutionary knowledge reputation system wiki2.0 global collaboration genes proteins drugs chemicals diseases compound
Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
MeSH Review

Chondrodysplasia Punctata, Rhizomelic

Welcome! If you are familiar with the subject of this article, you can contribute to this open access knowledge base by deleting incorrect information, restructuring or completely rewriting any text. Read more.

Disease relevance of Chondrodysplasia Punctata, Rhizomelic


High impact information on Chondrodysplasia Punctata, Rhizomelic


Chemical compound and disease context of Chondrodysplasia Punctata, Rhizomelic


Biological context of Chondrodysplasia Punctata, Rhizomelic


Anatomical context of Chondrodysplasia Punctata, Rhizomelic


Gene context of Chondrodysplasia Punctata, Rhizomelic


  1. Genetic relation between the Zellweger syndrome, infantile Refsum's disease, and rhizomelic chondrodysplasia punctata. Wanders, R.J., Saelman, D., Heymans, H.S., Schutgens, R.B., Westerveld, A., Poll-Thé, B.T., Saudubray, J.M., Van den Bosch, H., Strijland, A., Schram, A.W. N. Engl. J. Med. (1986) [Pubmed]
  2. Peroxisomal straight-chain Acyl-CoA oxidase and D-bifunctional protein are essential for the retroconversion step in docosahexaenoic acid synthesis. Su, H.M., Moser, A.B., Moser, H.W., Watkins, P.A. J. Biol. Chem. (2001) [Pubmed]
  3. Clinical and biochemical heterogeneity in conditions with phytanic acid accumulation. Skjeldal, O.H., Stokke, O., Refsum, S., Norseth, J., Petit, H. J. Neurol. Sci. (1987) [Pubmed]
  4. Peroxisomal disorders: clinical aspects. Suzuki, Y., Shimozawa, N., Takahashi, Y., Imamura, A., Kondo, N., Orii, T. Ann. N. Y. Acad. Sci. (1996) [Pubmed]
  5. Abnormal myelin formation in rhizomelic chondrodysplasia punctata type 2 (DHAPAT-deficiency). Sztriha, L., Al-Gazali, L.I., Wanders, R.J., Ofman, R., Nork, M., Lestringant, G.G. Developmental medicine and child neurology. (2000) [Pubmed]
  6. Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata. Braverman, N., Steel, G., Obie, C., Moser, A., Moser, H., Gould, S.J., Valle, D. Nat. Genet. (1997) [Pubmed]
  7. Photosensitized killing of cultured fibroblasts from patients with peroxisomal disorders due to pyrene fatty acid-mediated ultraviolet damage. Hoefler, G., Paschke, E., Hoefler, S., Moser, A.B., Moser, H.W. J. Clin. Invest. (1991) [Pubmed]
  8. Pex18p and Pex21p, a novel pair of related peroxins essential for peroxisomal targeting by the PTS2 pathway. Purdue, P.E., Yang, X., Lazarow, P.B. J. Cell Biol. (1998) [Pubmed]
  9. A mobile PTS2 receptor for peroxisomal protein import in Pichia pastoris. Elgersma, Y., Elgersma-Hooisma, M., Wenzel, T., McCaffery, J.M., Farquhar, M.G., Subramani, S. J. Cell Biol. (1998) [Pubmed]
  10. Impaired neuronal migration and endochondral ossification in Pex7 knockout mice: a model for rhizomelic chondrodysplasia punctata. Brites, P., Motley, A.M., Gressens, P., Mooyer, P.A., Ploegaert, I., Everts, V., Evrard, P., Carmeliet, P., Dewerchin, M., Schoonjans, L., Duran, M., Waterham, H.R., Wanders, R.J., Baes, M. Hum. Mol. Genet. (2003) [Pubmed]
  11. Diagnosis of peroxisomal disorders by analysis of phytanic and pristanic acids in stored blood spots collected at neonatal screening. ten Brink, H.J., van den Heuvel, C.M., Christensen, E., Largillière, C., Jakobs, C. Clin. Chem. (1993) [Pubmed]
  12. Phytanic acid alpha-oxidation: accumulation of 2-hydroxyphytanic acid and absence of 2-oxophytanic acid in plasma from patients with peroxisomal disorders. ten Brink, H.J., Schor, D.S., Kok, R.M., Poll-The, B.T., Wanders, R.J., Jakobs, C. J. Lipid Res. (1992) [Pubmed]
  13. Rhizomelic chondrodysplasia punctata: clinical, pathologic, and biochemical findings in two patients. Poulos, A., Sheffield, L., Sharp, P., Sherwood, G., Johnson, D., Beckman, K., Fellenberg, A.J., Wraith, J.E., Chow, C.W., Usher, S. J. Pediatr. (1988) [Pubmed]
  14. Clinical and biochemical characteristics of peroxisomal disorders: an update. Wanders, R.J., Barth, P.G., Schutgens, R.B., Tager, J.M. Eur. J. Pediatr. (1994) [Pubmed]
  15. Studies of vertebral coronal cleft in rhizomelic chondrodysplasia punctata. Wells, T.R., Landing, B.H., Bostwick, F.H. Pediatric pathology / affiliated with the International Paediatric Pathology Association. (1992) [Pubmed]
  16. Intracellular localization, function, and dysfunction of the peroxisome-targeting signal type 2 receptor, Pex7p, in mammalian cells. Mukai, S., Ghaedi, K., Fujiki, Y. J. Biol. Chem. (2002) [Pubmed]
  17. Ultrastructure and immunocytochemistry of hepatic peroxisomes in rhizomelic chondrodysplasia punctata. Hughes, J.L., Poulos, A., Crane, D.I., Chow, C.W., Sheffield, L.J., Sillence, D. Eur. J. Pediatr. (1992) [Pubmed]
  18. Phytanic acid alpha-oxidation in peroxisomal disorders: studies in cultured human fibroblasts. Verhoeven, N.M., Schor, D.S., Roe, C.R., Wanders, R.J., Jakobs, C. Biochim. Biophys. Acta (1997) [Pubmed]
  19. Therapeutic developments in peroxisome biogenesis disorders. McGuinness, M.C., Wei, H., Smith, K.D. Expert opinion on investigational drugs. (2000) [Pubmed]
  20. Functional studies on human Pex7p: subcellular localization and interaction with proteins containing a peroxisome-targeting signal type 2 and other peroxins. Ghys, K., Fransen, M., Mannaerts, G.P., Van Veldhoven, P.P. Biochem. J. (2002) [Pubmed]
  21. Cerebellar atrophy in chronic rhizomelic chondrodysplasia punctata: a potential role for phytanic acid and calcium in the death of its Purkinje cells. Powers, J.M., Kenjarski, T.P., Moser, A.B., Moser, H.W. Acta Neuropathol. (1999) [Pubmed]
  22. Studies on the degradation of [U-3H]-phytanic acid and [U-3H]-pristanic acid in cultured fibroblasts from children with peroxisomal disorders. Kase, B.F., Björkhem, I. Scand. J. Clin. Lab. Invest. (1996) [Pubmed]
  23. Rhizomelic chondrodysplasia punctata: 16-year follow-up of a child from birth. Lenti, C., Paganoni, P., Sangermani, R. Italian journal of neurological sciences. (1991) [Pubmed]
  24. Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor. Purdue, P.E., Zhang, J.W., Skoneczny, M., Lazarow, P.B. Nat. Genet. (1997) [Pubmed]
  25. PEX7 gene structure, alternative transcripts, and evidence for a founder haplotype for the frequent RCDP allele, L292ter. Braverman, N., Steel, G., Lin, P., Moser, A., Moser, H., Valle, D. Genomics (2000) [Pubmed]
  26. Stability of alkyl-dihydroxyacetonephosphate synthase in human control and peroxisomal disorder fibroblasts. Biermann, J., Gootjes, J., Wanders, R.J., van den Bosch, H. IUBMB Life (1999) [Pubmed]
  27. Dihydroxyacetone phosphate acyltransferase and alkyldihydroxyacetone phosphate synthase activities in rat liver subcellular fractions and human skin fibroblasts. Singh, H., Usher, S., Poulos, A. Arch. Biochem. Biophys. (1989) [Pubmed]
  28. Fatty alcohol accumulation in the autosomal recessive form of rhizomelic chondrodysplasia punctata. Rizzo, W.B., Craft, D.A., Judd, L.L., Moser, H.W., Moser, A.B. Biochem. Med. Metab. Biol. (1993) [Pubmed]
WikiGenes - Universities