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Publication

SIRT1 activation rescues the mislocalization of RNA-binding proteins and cognitive defects induced by inherited cobalamin disorders.

Rose Ghemrawi | Carole Arnold | Shyue-Fang Battaglia-Hsu | Grégory Pourié | Isabelle Trinh | Christine Bassila | Charif Rashka | Arnaud Wiedemann | Justine Flayac | Aurélie Robert | Natacha Dreumont | François Feillet | Jean-Louis Guéant | David Coelho
Metabolism: clinical and experimental | 2019

The molecular consequences of inborn errors of vitamin B12 or cobalamin metabolism are far from being understood. Moreover, innovative therapeutic strategies are needed for the treatment of neurological outcomes that are usually resistant to conventional treatments. Our previous findings suggest a link between SIRT1, cellular stress and RNA binding proteins (RBP) mislocalization in the pathological mechanisms triggered by impaired vitamin B12 metabolism.

Pubmed ID: 31672445

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C57BL/6J (tool)

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