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Improving the folding/aggregation changes observed with mutant ATXN3 has been successful with compounds such as 17-DMAG (an Hsp90 inhibitor and autophagy inducer), temsirolimus (a rapamycin analog that increases autophagy), cordycepin (autophagy inducer), and H1152 (a ROCK inhibitor shown to decrease levels of mutant ATXN3) [84, 90, 92, 172]

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While a majority of the cobalamin disorders are a combination of both HCU and MMA, not all are

For patients who have difficulty absorbing vitamin B12 from food or oral supplementssuch as older adults or those with certain digestive conditionsvitamin B12 injections offer an effective solution

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