Article

Tracing the genetics of neurological disease to the mutation-directed addition of single hydrogen bonds

2021-12-06

Abstract excerpt

Mutations causative of neurological and neurodegenerative disease can occur in coding regions that specify protein domains of low sequence complexity. These autosomal dominant mutations can be idiosyncratic in their recurrent appearance at the same amino acid. Here we report studies of recurrent mutations in proline residues located within low complexity (LC) domains associated with the neurofilament light chain p...

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Literature Corpus work: eb421a60-8a83-5a5c-bbc8-777ab1a3d627
DOI: 10.1101/2021.12.05.471334

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