Read e-book online Huntington's Disease: Etiology and Symptoms, Diagnosis and PDF

By Thomas J. Visser

ISBN-10: 1617284513

ISBN-13: 9781617284519

ISBN-10: 1617287490

ISBN-13: 9781617287497

Huntington's affliction, chorea or disease (HD) is an incurable neurodegenerative genetic affliction, which impacts muscle co-ordination and a few cognitive features, in general turning into visible in center age. it's the most typical genetic reason for irregular involuntary writhing pursuits referred to as chorea and is far extra universal in humans of Western ecu descent than in these from Asia or Africa. The illness is attributable to a dominant mutation on both of the 2 copies of a gene referred to as Huntington. This ebook gathers and provides present study within the research of Huntington's sickness together with the outlining results of mutant htt within the nucleus and cytoplasm and the function of cell-cell interactions in Huntington's illness pathology, in addition to a evaluation of the position of Huntington (HTT) interacting proteins.

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Extra resources for Huntington's Disease: Etiology and Symptoms, Diagnosis and Treatment (Neuroscience Research Progress)

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2001). " J Neurosci Res, 65(4), 289-97. Kalchman, M. A. & Koide H. B. , (1997). "HIP1, a human homologue of S. " Nat Genet, 16(1), 4453. Kegel, K. B. & Meloni A. R. , (2002). " J Biol Chem, 277(9), 7466-76. , Powell, S. & Jankovic, J. (2007) “Autopsy-proven Huntington´s disease with 29 trinucleotide repeats”. Mov Disord, 22, 127-130. Kim, Y. J. & Yi Y. et al. (2001). " Proc Natl Acad Sci, U S A 98(22), 12784-9. Kita, H. & Carmichael J. et al. (2002). " Hum Mol Genet, 11(19), 2279-87. Kittler, J.

2006). , 1998). , 2003). , 2006). , 2003). The interactions of HIP1 with these proteins may constitute a protein complex involved in clathrin-mediated endocytosis. , 1997). This finding suggests that HIP1 requires interaction with htt for normal function, whereas dissociation from mutant htt may impair its function. Although the interactions of htt with HAP1, HIP1, and other cytoplasmic proteins suggests that htt is involved in intracellular trafficking, more compelling evidence has come from the studies of trafficking function in cells that express mutant htt.

H. et al. (2003). " J Neurosci, 23(6), 2193-202. Zala, D. & Colin, E. , (2008). “Phosphorylation of mutant huntingtin at S421 restores anterograde and retrograde transport in neurons”. , 15, 17(24), 3837-46 Molecular Mechanisms Involved in the Pathogenesis of Huntington Disease 37 Zeitlin, S. & Liu J. P. et al. (1995). " Nat Genet 11(2), 155-63. Zeron, M. M. & Hansson, O. et al. (2002). " Neuron, 33(6), 849-60. Zhou, H. & Cao, F. et al. (2003). " J Cell Biol, 163(1), 109-18. Zoghbi, H. Y. & Orr, H.

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Huntington's Disease: Etiology and Symptoms, Diagnosis and Treatment (Neuroscience Research Progress) by Thomas J. Visser

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