By C. L. Wellington, B. R. Leavitt (auth.), Prof. Y. Mizuno, Prof. D. B. Calne, Dr. R. Horowski, Prof. W. Poewe, Prof. P. Riederer, Prof. M. B. H. Youdim (eds.)
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Extra resources for Advances in Research on Neurodegeneration: Volume 7
Furthermore, subcellular fractionation of brain tissues revealed that Parkin protein is mostly in the Golgi apparatus and cytosol and not in the nucleus. Thus, Parkin protein in PD patients is apparently involved in the Lewy body formation and proteasome pathway. Possible molecular functions of Parkin protein It may be useful to postulate possible functional roles for Parkin protein based on the available information. There are two major possibilities (Fig. 3). , 1988). , 1989). Its defect in ARlP may interfere with this proteolytic pathway.
As described below, the smn gene codes for a protein that binds to and synergizes with Bcl-2 in preventing cell death, is a determining gene for spinal muscular atrophy (SMA), a very common autosomal recessive genetic disorder. Spinal muscular atrophy Spinal muscular atrophy (SMA) is a motor neuron disease characterized by degeneration of the anterior horn cells of the spinal cord, leading to progressive muscular atrophy. SMA is a common fatal autosomal recessive disorder affecting 1 in 6,000 newborns.
Science 276: 2045-2047 Riess 0, Jakes R, Kruger R (1998) Genetic dissection of familial Parkinson's disease. Mol Med Today October: 438-444 Shimizu N (1999) Human genome project: current status, Keio strategy, and prospects. In: Uyemura K, Kawamura K, Yazaki T (eds) Keio University Symposium for Life Science and Medicine, vol 2. Neural development. Springer, Berlin Heidelberg New York Tokyo, pp 535-540 Shimura H, Hattori N, Kubo S, Yoshikawa M, Kitada T, Matsumine H, Asakawa S, Minoshima S, Yamamura Y, Shimizu N, Mizuno Y (1999) Immunohistochemical and subcellular localization of parkin protein: absence of protein in autosomal recessive juvenile parkinsonism patients.