Concepedia

A PEX6-Defective Peroxisomal Biogenesis Disorder with Severe Phenotype in an Infant, versus Mild Phenotype Resembling Usher Syndrome in the Affected Parents

Annick Raas‐Rothschild, Ronald J. A. Wanders, Petra A.W. Mooijer, Jeannette Gootjes, Hans R. Waterham, Alisa Gutman, Yasuyuki Suzuki, Nobuyuki Shimozawa, Naomi Kondo, Gideon Eshel,

The American Journal of Human Genetics · 2002 · 72 citations · 26 references

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Concepts

References

26

Plasma very long chain fatty acids in 3,000 peroxisome disease patients and 29,000 controls

Ann B. Moser, Nancy A. Kreiter, Lena Bezman et al. · Annals of Neurology · 1999 · 350 citations · Full text

, , +15

Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups

Ann B. Moser, Magnhild Rasmussen, Sakkubai Naidu et al. · The Journal of Pediatrics · 1995 · 244 citations

, , +12

The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for stability of the PTS1 receptor.

T. Yahraus, Nancy Braverman, Gabriele Dodt et al. · The EMBO Journal · 1996 · 187 citations · Full text

, , +10

Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of the major disease-causing mutation in the α-subunit of the mitochondrial trifunctional protein

Lodewijk IJlst, R. J. A. Wanders, S. Ushikubo et al. · Biochimica et Biophysica Acta (BBA) - Lipids and Lipid Metabolism · 1994 · 159 citations

, , +17

The Peroxisome Biogenesis Factors Pex4p, Pex22p, Pex1p, and Pex6p Act in the Terminal Steps of Peroxisomal Matrix Protein Import

Cynthia S. Collins, Jennifer E. Kalish, James C. Morrell et al. · Molecular and Cellular Biology · 2000 · 159 citations · Full text

, , +14