Article

Mouse Gnal transcripts and transcriptomics in isolated dystonia

2025-08-29

Abstract excerpt

<title>Abstract</title> <p>Heterozygous loss-of-function <italic>GNAL</italic> mutations are one established cause of isolated dystonia and hyposmia. Homozygous <italic>GNAL</italic> mutations have been reported in siblings with generalized dystonia and intellectual disability. <italic>GNAL</italic> encodes major [NM_001369387.1; Gα(olf)] and long [NM_182978.4; XLGα(olf)] isoforms. In striatal medium spiny neuron...

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Literature Corpus work: 2a2f90c6-67f1-5c53-a2fd-cce2f18cf6bd
DOI: 10.21203/rs.3.rs-7222154/v1

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