作者
Vootele Võikar, Heikki Rauvala, Elina Ikonen
发表日期
2002/4/15
期刊
Behavioural brain research
卷号
132
期号
1
页码范围
1-10
出版商
Elsevier
简介
Niemann-Pick disease type C (NPC) is a fatal, autosomal recessive lipidosis characterized by a unique error in cellular trafficking of cholesterol. In the disease, unesterified cholesterol as well as sphingolipids accumulate in the late endosomes/lysosomes due to mutations in either of two recently isolated genes, NPC1 or NPC2. A metabolic and neurological disorder reminiscent of human NPC disease has been described in Balb/C mice, and it was recently shown that the mutation in the NPC mice resides in the orthologous murine Npc1 gene. Here we have followed the growth rate and applied behavioural methods in order to establish the onset and development of the major symptoms in the NPC mouse model. Wild type and NPC mice were studied during 28–59 days of age. Both male and female NPC mice displayed retarded growth at the age between 25 and 35 days. At the age of 35–45 days the weight was …
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V Võikar, H Rauvala, E Ikonen - Behavioural brain research, 2002