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Identification of the RAG-1 as a suitable mouse model for mitochondrial DNA disease

✍ Scribed by Deborah Pye; Diana J Watt; Chris Walker; Robert N Lightowlers; Douglass M Turnbull

Book ID
116792175
Publisher
Elsevier Science
Year
2004
Tongue
English
Weight
459 KB
Volume
14
Category
Article
ISSN
0960-8966

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## Abstract Sly disease (MPS VII) is an autosomal‐recessive lysosomal storage disorder resulting from beta‐glucuronidase deficiency, which is characterized by a severe neurological impairment. MPS VII mice accumulate undegraded glycosaminoglycans and mimic the human neurodegenerative disorder, thus