Article

Human HINT1 Mutant Proteins that Cause Axonal Motor Neuropathy Exhibit Anomalous Interactions with Partner Proteins

2020-06-09

Abstract excerpt

<title>Abstract</title> <p>The 14 kDa histidine triad nucleotide-binding protein 1 (HINT1) is critical to maintain the normal function of motor neurons. Thus, a series of human HINT1 mutants cause autosomal recessive axonal neuropathy with neuromyotonia. HINT1 establishes a series of regulatory interactions with signaling proteins, some of which are enriched in motor neurons, such as the type 1 sigma receptor or...

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Literature Corpus work: 819b075c-168d-574c-9ca4-a5f73fc6a8b4
DOI: 10.21203/rs.3.rs-33434/v1

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