Scar13 - Ixaqeled

Last updated: Friday, September 13, 2024

Entry 614831 AUTOSOMAL ATAXIA SPINOCEREBELLAR

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

mutations SCAR13associated affect SCA44 GRM1 and

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

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SCA44 mutations GRM1 and SCAR13associated affect

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

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affect GRM1 mutations and SCAR13associated SCA44

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

in Severe Autosomal Neurodevelopmental Disorder Recessive

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

SCAR13associated and GRM1 SCA44 mutations affect

spinocerebellar occurring scar13 Running glutamate function mGlu1 Title mutations naturally Mutant SCA44 modulation Keywords allosteric mGlu1 ataxia

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