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Phospholipid synthesis is decreased in neuronal tissue in a mouse model of Sandhoff disease

✍ Scribed by Rosaria Buccoliero; Jacques Bodennec; Gerhild Van Echten-Deckert; Konrad Sandhoff; Anthony H. Futerman


Book ID
111178274
Publisher
John Wiley and Sons
Year
2004
Tongue
English
Weight
259 KB
Volume
90
Category
Article
ISSN
0022-3042

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## Abstract Alexander disease is a rare and usually fatal neurological disorder characterized by the abundant presence of protein aggregates in astrocytes. Most cases result from dominant missense __de novo__ mutations in the gene encoding glial fibrillary acidic protein (GFAP), but how these mutat