Advances in Human Genetics 21 - download pdf or read online

By Hugo W. Moser (auth.), Harry Harris, Kurt Hirschhorn (eds.)

ISBN-10: 146136311X

ISBN-13: 9781461363118

ISBN-10: 1461530105

ISBN-13: 9781461530107

The present quantity contains chapters on peroxisomal issues, genetic points of melanoma, Gaucher sickness, and different topics.

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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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Advances in Human Genetics 21 by Hugo W. Moser (auth.), Harry Harris, Kurt Hirschhorn (eds.)

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