Article

A nonsense <i>mutation in Myelin Protein Zero</i> causes congenital hypomyelination neuropathy through altered P0 membrane targeting and gain of abnormal function

2018-06-27

Abstract excerpt

Protein Zero (P0) is the major structural protein in peripheral myelin and mutations in the Myelin Protein Zero ( Mpz ) gene produce wide ranging hereditary neuropathy phenotypes. To gain insight in the mechanisms underlying a particularly severe form, congenital hypomyelination (CH), we targeted mouse Mpz to encode P0Q215X, a nonsense mutation associated with the disease, that we show escapes nonsense mediated...

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Literature Corpus work: fdff3cb8-00bb-54f6-bade-a5f30cfb5286
DOI: 10.1101/352112

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