Jonas Carl-Otto Bjorkman

TL;DR: It is concluded that Pex13p functions as a docking factor for the predominantly cytoplasmic PTS1 receptor and eliminates import of peroxisomal matrix proteins that contain either the type-1 or type-2 peroxISomal targeting signal but does not affect targeting and insertion of integral perox isomal membrane proteins.

TL;DR: It is demonstrated that a portion of ATM co-localizes with catalase, that ATM is present in purified mouse peroxisomes, and that there are reduced levels of ATM in the post-mitochondrial membrane fraction of cells from a patient with a peroxISome biogenesis disorder.

TL;DR: Pex13−/− mice reproduce many of the features of Zellweger syndrome and PEX13 deficiency in humans, and the brains of these animals showed disordered lamination in the cerebral cortex, consistent with a neuronal migration defect.

TL;DR: Results provide strong evidence that mutations in PEX13 are responsible for disease in patient PBD222 and, by extension, in complementation group 13 of the PBDs.

TL;DR: It is found that remnant peroxisomes in fibroblasts from patients with PEX1-null Zellweger syndrome or D-BP deficiency exhibited clustering and loss of alignment along peripheral microtubules, which indicate defects at different stages inperoxisome proliferation and division reflect processes that require association of these structures with, and dispersal along, micro Tubules.