Article
A recessive Trim2 mutation causes an axonal neuropathy in mice.
Neurobiology of disease - 1 Jul 2020
Li Jian J, Sarute Nicolas, Lancaster Eunjoo, Otkiran-Clare Guliz, Fagla Bani Medegan, Ross Susan R, Scherer Steven S
Abstract excerpt
We analyzed Trim2A/A mice, generated by CRISPR-Cas9, which have a recessive, null mutation of Trim2. Trim2A/A mice develop ataxia that is associated with a severe loss of cerebellar Purkinje cells and a peripheral neuropathy. Myelinated axons in the CNS, including those in the deep cerebellar nuclei, have focal enlargements that contain mitochondria and neurofilaments. In the PNS, there is a loss of myelinated...
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