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SCA44- and SCAR13-associated GRM1 mutations affect metabotropic glutamate receptor 1 function through distinct mechanisms

2023-07-05

Abstract excerpt

Metabotropic glutamate receptor 1 (mGlu 1 ) is a promising therapeutic target for neurodegenerative CNS disorders including spinocerebellar ataxias (SCAs). Clinical reports have identified naturally-occurring mGlu 1 mutations in rare SCA subtypes and clinical symptoms of mGlu 1 mutations have been described. However, how mutations alter mGlu 1 function remains unknown. We explored SCA-associated mutation effec...

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Literature Corpus work: f63f9704-7bfe-55d8-9064-0504f444a175
DOI: 10.1101/2023.07.05.545810

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SCA44- and SCAR13-associated <i>GRM1</i> mutations affect metabotropic glutamate receptor 1 function through distinct mechanisms

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