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Extra info for Analytic sets. London school 1978
This type of abnormality is referred to as a defect in neuronal migration. For a general discussion of this topic see Barth (1937). In the cerebellum a large number of heterotopic Purkinje cells are scattered throughout the cerebellar cortex and in the granule cell layer. Finally, there is an abnormality of the inferior olivary nucleus that appears to be unique to Zellweger syndrome, namely laminar discontinuities that involve the principal olivary nucleus and are presumed to be secondary to the Purkinje cell abnormalities.
1986), with the 22-, 68-, and 70-kD PMPs being most prominent. Imanaka et al. (1991) have recently identified a novel 57-kD peroxisomal integral membrane protein that is located on the cytoplasmic surface and is induced by peroxisome proliferators. In an important recent advance, Kamijo et al. (1990) determined the complete nucleotide cDNA sequence of the 70-kD PMP. , 1990). This conclusion is based upon sequence homology between the carboxy-terminal portion of the 70-kD PMP and these ATP-binding proteins.
They stated that, while "it is difficult, it not impossible to unequivocally demonstrate the absence of an organelle by morphological studies. , 1983). Indeed, the presence of a significant number of catalase-containing particles excludes the diagnosis of Zellweger syndrome or of the other disorders of peroxisome biogenesis. Peroxisomes are also markedly reduced in number or are absent in cultured skin fibroblasts of Zellweger patients (Santos et al. , 1985). , 1986d). , 1988d), from which it can be inferred that peroxisomes are reduced also in this disorder.
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