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• W2074095345 abstract "Abstract Niemann Pick disease is a family of autosomal recessive disorders characterized by cholesterol accumulation. The most common type is Niemann Pick type A/B (NPA/B), resulting from deficient acid sphingomyelinase activity, which leads to sphingomyelin and cholesterol accumulation. The neuropathology of NPA/B includes widespread neuronal degeneration. An acid sphingomyelinase knockout mouse model of NPA/B (ASMKO) has been developed by the targeted deletion of the acid sphingomyelinase gene. When cerebellar morphology was examined in the ASMKO mouse at postnatal day 60 (P60), a dramatic pattern of longitudinal stripes was revealed in which roughly half the Purkinje cells had died, leaving a highly stereotyped, bilaterally symmetrical array of stripes. Antizebrin II immunocytochemistry revealed that the absent Purkinje cells corresponded exactly to the zebrin II‐negative subset, leaving the zebrin II‐positive subset apparently intact. By P120, some of the zebrin II‐positive Purkinje cells had also been eliminated from the posterior vermis and hemispheres. By P180, all Purkinje cells had been lost from the anterior lobe. Finally at P240, almost all Purkinje cells had disappeared to leave a stereotyped distribution in lobules VI, IX–X and the flocculus and paraflocculus. The temporal pattern of Purkinje cell death demonstrates differential susceptibility of morphologically identical cells that appear to be linked to their molecular phenotypes." @default.
• W2074095345 created "2016-06-24" @default.
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• W2074095345 date "2001-05-01" @default.
• W2074095345 modified "2023-10-16" @default.
• W2074095345 title "Patterned cerebellar Purkinje cell death in a transgenic mouse model of Niemann Pick type A/B disease" @default.
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• W2074095345 doi "https://doi.org/10.1046/j.0953-816x.2001.01564.x" @default.
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