Novel mutations in the PEX12 gene of patients with a peroxisome biogenesis disorder

The metabolic and molecular bases of inherited disease

Ying-Tsong Chen · Medical Entomology and Zoology · 2001 · 6.9K citations

Life Sciences, Genetics, Molecular Genetics +14

Severe plasmalogen deficiency in tissues of infants without peroxisomes (Zellweger syndrome)

H. S. A. Heymans, R. B. H. Schutgens, Raymond K. Tan et al. · Nature · 1983 · 351 citations

Medicine, Pathology, Pediatrics +13

Deficiency of Enzymes Catalyzing the Biosynthesis of Glycerol-Ether Lipids in Zellweger Syndrome

Nabanita S. Datta, Golder N. Wilson, Amiya K. Hajra · New England Journal of Medicine · 1984 · 188 citations

Life Sciences, Biochemistry, Molecular Genetics +17

Genetic heterogeneity in the cerebrohepatorenal (Zellweger) syndrome and other inherited disorders with a generalized impairment of peroxisomal functions. A study using complementation analysis.

Stanley Brul, A. Westerveld, Anneke Strijland et al. · Journal of Clinical Investigation · 1988 · 164 citations · Full text

Life Sciences, Biochemistry, Genetics +16

Pex12 Interacts with Pex5 and Pex10 and Acts Downstream of Receptor Docking in Peroxisomal Matrix Protein Import

Chia‐Che Chang, Daniel Warren, Katherine A. Sacksteder et al. · The Journal of Cell Biology · 1999 · 151 citations · Full text

Life Sciences, Molecular Biology, Molecular Genetics +13