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Dokumenttyp:
journal article 
Autor(en):
Rudelius, M; Osanger, A; Kohlmann, S; Augustin, M; Piontek, G; Heinzmann, U; Jennen, G; Russ, A; Matiasek, K; Stumm, G; Schlegel, J 
Titel:
A missense mutation in the WD40 domain of murine Lyst is linked to severe progressive Purkinje cell degeneration. 
Abstract:
Disturbance of intracellular trafficking plays a major role in several neurodegenerative disorders including Alzheimer or Parkinson's disease. The Chediak-Higashi syndrome (CHS), a life-threatening autosomal recessive disease with frequent mutations in the LYST gene, and its animal model, the beige mouse, are both characterized by lysosomal defects with accumulation of giant lysosomes. Clinically they manifest as hypopigmentation, abnormal bleeding and increased susceptibility to infection with...    »
 
Zeitschriftentitel:
Acta Neuropathol (Berl) 
Jahr:
2006 
Band / Volume:
112 
Heft / Issue:
Seitenangaben Beitrag:
267-76 
Sprache:
eng 
Print-ISSN:
0001-6322 
TUM Einrichtung:
r Allgemeine Pathologie und pathologische Anatomie