Generalised and conditional inactivation of Pex genes in mice.
During the past 10 years, several Pex genes have been knocked out in the mouse with the purpose to generate models to study the pathogenesis of peroxisome biogenesis disorders and/or to investigate the physiological importance of the Pex proteins. More recently, mice with selective inactivation of a Pex gene in particular cell types were created. The metabolic abnormalities in peroxisome deficient mice paralleled to a large extent those of Zellweger patients. Several but not all of the clinical and histological features reported in patients also occurred in peroxisome deficient mice as for example hypotonia, cortical and cerebellar malformations, endochondral ossification defects, hepatomegaly, liver fibrosis and ultrastructural abnormalities of mitochondria in hepatocytes. Although the molecular origins of the observed pathologies have not yet been resolved, several new insights on the importance of peroxisomes in different tissues have emerged.
Baes
Myriam
M
Laboratory for Cell Metabolism, Campus Gasthuisberg Onderwijs en Navorsing II, bus 823 Herestraat 49 B-3000, Department of Pharmaceutical Sciences, Katholieke Universiteit Leuven, Leuven, Belgium. Myriam.Baes@pharm.kuleuven.be
Van Veldhoven
Paul P
PP
D000818:Animals; D022781:Hepatocytes / Q000378:metabolism; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics / Q000378:metabolism*; D051379:Mice; D018345:Mice, Knockout; D018901:Peroxisomal Disorders / Q000235:genetics*; D000074437:Peroxisomal Targeting Signal 2 Receptor; D000074435:Peroxisome-Targeting Signal 1 Receptor; D020675:Peroxisomes / Q000235:genetics* / Q000502:physiology*; D018160:Receptors, Cytoplasmic and Nuclear / Q000235:genetics / Q000378:metabolism*; D012708:Sertoli Cells / Q000378:metabolism; D015211:Zellweger Syndrome / Q000235:genetics / Q000378:metabolism
D008565:Membrane Proteins; D000074437:Peroxisomal Targeting Signal 2 Receptor; D000074435:Peroxisome-Targeting Signal 1 Receptor; C469727:Pex11alpha protein, mouse; D018160:Receptors, Cytoplasmic and Nuclear