intro_s11 - von-Hippel Lindau(VHL hereditary cancer...

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von-Hippel Lindau (VHL) hereditary cancer syndrome Images removed due to copyright considerations. See Figures 1 through 5, Table 1, and Box 1 in Kaelin Jr., WG. 200. 2002. Molecular basis of the VHL hereditary cancer syndrome. Nature Rev. Cancer 2; 673-682.
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Huntington’s disease (HD) To date, 10 neurological diseases, including Huntington’s and several ataxias , are caused by the lengthening of glutamine (Q) tracts in various proteins with no obvious functional or evolutionary relationships. This phenomenon results from a mutation involving a CAG repeat expansion in the corresponding genes. Even though the Q expansions arise in unrelated proteins, the diseases share three striking features: (1) The existence of a stretch of 35-45 glutamine residues in the mutant protein. (2) The Q-expanded proteins are expressed in many tissues, yet pathology is largely restricted to neurons . (3) The Q-expanded proteins or fragments thereof form nuclear inclusions that also contain ubiquitin, proteasomes and chaperones . Although they differ in their clinical presentation and neuropathological profile, the patients display different combinations of motor, psychiatric, cognitive, and sensory symptoms . In Huntington’s, the disease is caused by a mutation in the gene encoding for Huntingtin (a protein of unknown function, although has been recently implicated in the control of gene transcription). Huntingtin has been found to be ubiquitinated and also interacts with the ubiquitin-conjugating enzyme E2-25.
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