cellular
• the neurons of the cerebral cortex have defects in autophagy leading to a build up of cytoplasmic inclusion bodies that contain ubiquitinated proteins
• these inclusion bodies are visible two days after birth and grow in size and number during development
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• increased apoptosis of the neurons occurs in the cerebellar nucleus and the cerebral cortex
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homeostasis/metabolism
• the neurons of the cerebral cortex have defects in autophagy leading to a build up of cytoplasmic inclusion bodies that contain ubiquitinated proteins
• these inclusion bodies are visible two days after birth and grow in size and number during development
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nervous system
• large pyramidal neurons in the hippocampus are absent
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• large pyramidal neurons in the cerebral cortex are absent
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• myelinated axons of the cerebellar nuclei are frequently enlarged and contain aberrant membranous structures and degenerated material
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• the neurons of the cerebral cortex have defects in autophagy leading to a build up of cytoplasmic inclusion bodies that contain ubiquitinated proteins
• these inclusion bodies are visible two days after birth and grow in size and number during development
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• increased apoptosis of the neurons occurs in the cerebellar nucleus and the cerebral cortex
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behavior/neurological
• abnormal limb clasping is observed in mice
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