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FARAFARA Cure FA

MutLα Heterodimers Modify the Molecular Phenotype of Friedreich Ataxia

BACKGROUND:

Friedreich ataxia (FRDA), the most common autosomal recessive ataxia disorder, is caused by a dynamic GAA repeat expansion mutation within intron 1 of FXN gene, resulting in down-regulation of frataxin expression. Studies of cell and mouse models have revealed a role for the mismatch repair (MMR) MutS-heterodimer complexes and the PMS2 component of the MutLα complex in the dynamics of intergenerational and somatic GAA repeat expansions: MSH2, MSH3 and MSH6 promote GAA repeat expansions, while PMS2 inhibits GAA repeat expansions

Read More: MutLα Heterodimers Modify the Molecular Phenotype of Friedreich Ataxia


About the Author

Jen Farmer

Jen Farmer

Executive Director

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