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Title:

Mutations in dynein link motor neuron degeneration to defects in retrograde transport.

Document type:
Journal Article
Author(s):
Hafezparast, M; Klocke, R; Ruhrberg, C; Marquardt, A; Ahmad-Annuar, A; Bowen, S; Lalli, G; Witherden, AS; Hummerich, H; Nicholson, S; Morgan, PJ; Oozageer, R; Priestley, JV; Averill, S; King, VR; Ball, S; Peters, J; Toda, T; Yamamoto, A; Hiraoka, Y; Augustin, M; Korthaus, D; Wattler, S; Wabnitz, P; Dickneite, C; Lampel, S; Boehme, F; Peraus, G; Popp, A; Rudelius, M; Schlegel, J; Fuchs, H; Hrabé de Angelis, M; Schiavo, G; Shima, DT; Russ, AP; Stumm, G; Martin, JE; Fisher, EM
Abstract:
Degenerative disorders of motor neurons include a range of progressive fatal diseases such as amyotrophic lateral sclerosis (ALS), spinal-bulbar muscular atrophy (SBMA), and spinal muscular atrophy (SMA). Although the causative genetic alterations are known for some cases, the molecular basis of many SMA and SBMA-like syndromes and most ALS cases is unknown. Here we show that missense point mutations in the cytoplasmic dynein heavy chain result in progressive motor neuron degeneration in heteroz...     »
Journal title abbreviation:
Science
Year:
2003
Journal volume:
300
Journal issue:
5620
Pages contribution:
808-12
Language:
eng
Fulltext / DOI:
doi:10.1126/science.1083129
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/12730604
Print-ISSN:
0036-8075
TUM Institution:
Institut für Allgemeine Pathologie und Pathologische Anatomie
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