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Description
Evidence of perturbations of cell cycle and DNA repair pathways as a consequence of human and murine NF1-haploinsufficiency
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They discovered a unique and specific manganese-binding site within the cytosolic cavity of the transporter that is formed by residues Asp40, Asn127, Asp248, and Ser252, and showed that the conserved residue Asp40 is critical, as its mutation abolishes Mn 2+ binding and transport
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Independent reviewers consistently note that rodent-model time courses do not transfer one-for-one to humans
