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Disorders of Peroxisome Biogenesis Due to Mutations in PEX1: Phenotypes and PEX1 Protein Levels

Claudia Walter, Jeannette Gootjes, Petra A.W. Mooijer, Herma Portsteffen, Christina Klein, Hans R. Waterham, P. G. Barth, Jörg T. Epplen, Wolf‐H. Kunau, Ronald J. A. Wanders,

The American Journal of Human Genetics · 2001 · 107 citations · 29 references

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29

A simple salting out procedure for extracting DNA from human nucleated cells

S.A. Miller, Dale D. Dykes, Herbert F. Polesky · Nucleic Acids Research · 1988 · 20.4K citations · Full text

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When cells stop making sense: effects of nonsense codons on RNA metabolism in vertebrate cells.

Lynne E. Maquat · PubMed · 1995 · 514 citations

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Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders

Gabriele Dodt, Nancy Braverman, C Wong et al. · Nature Genetics · 1995 · 426 citations

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Multiple PEX genes are required for proper subcellular distribution and stability of Pex5p, the PTS1 receptor: evidence that PTS1 protein import is mediated by a cycling receptor.

Gabriele Dodt, S. J. GOULD · The Journal of Cell Biology · 1996 · 318 citations · Full text

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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

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