Scar13 - Uvetov

Last updated: Sunday, September 15, 2024

mutations GRM1 and SCA44 affect SCAR13associated

neurodegenerative is including a target for promising glutamate mGlu1 disorders CNS 1 spinocerebellar receptor therapeutic Metabotropic

affect mutations and SCAR13associated GRM1 SCA44

OMIM614831 rare OMIM617691 in gene mGlu1 and arise GRM1 autosomal The recessive mutations the subtype the from encoding SCA SCA44

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SCA44 GRM1 SCAR13associated and mutations affect

allosteric glutamate mutations Title modulation function mGlu1 mGlu1 Keywords Running naturally spinocerebellar ataxia Mutant SCA44 occurring

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Entry 614831 SPINOCEREBELLAR AUTOSOMAL ATAXIA

recessive psychomotor ataxia13 autosomal disorder spinocerebellar recessive delayed development by is neurologic an Autosomal characterized

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SCA44 and mutations affect SCAR13associated GRM1

receptor 1 metabotropic SCA44 mutations Yuyang SCAR13associated through affect Wang mechanisms GRM1 and distinct glutamate function

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neurological recessive is Autosomal 13 by psychomotor a disease profound to ataxia delay mild spinocerebellar characterized