Concepedia

A common PEX1 frameshift mutation in patients with disorders of peroxisome biogenesis correlates with the severe Zellweger syndrome phenotype

Megan Maxwell, P. V. Nelson, Sharon Chin, Barbara C. Paton, W.F. Carey, Denis I. Crane

Human Genetics · 1999 · 40 citations · 19 references

DOI

Concepts

References

19

A conserved tripeptide sorts proteins to peroxisomes.

Stephen J. Gould, G A Keller, Nancy Hosken et al. · The Journal of Cell Biology · 1989 · 1.1K citations · Full text

, , +17

A novel, cleavable peroxisomal targeting signal at the amino‐terminus of the rat 3‐ketoacyl‐CoA thiolase.

Bart W. Swinkels, Stephen J. Gould, Andrea Bodnár et al. · The EMBO Journal · 1991 · 626 citations · Full text

, , +11

Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata

Nancy Braverman, Gary Steel, Cassandra Obie et al. · Nature Genetics · 1997 · 445 citations

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Amino-terminal presequence of the precursor of peroxisomal 3-ketoacyl-CoA thiolase is a cleavable signal peptide for peroxisomal targeting

Takashi Osumi, Toshiro Tsukamoto, Shingo Hata et al. · Biochemical and Biophysical Research Communications · 1991 · 287 citations

, , +17

Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor

Alison M. Motley, Ewald H. Hettema, Eveline M. Hogenhout et al. · Nature Genetics · 1997 · 272 citations

, , +10