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Article

A missense mutation in the WD40 domain of murine Lyst is linked to severe progressive Purkinje cell degeneration.

Acta neuropathologica - 1 Sept 2006

Rudelius Martina, Osanger Andreas, Kohlmann Stephanie, Augustin Martin, Piontek Guido, Heinzmann Ulrich, Jennen Gisela, Russ Andreas, Matiasek Kaspar, Stumm Gabriele, Schlegel Juergen

Abstract excerpt

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...

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PMID: 16791600
DOI: 10.1007/s00401-006-0092-6

Genes

LYST

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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