Listar por autor "Krishna, Sindhu"

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Lack of aprataxin impairs mitochondrial functions via downregulation of the APE1/NRF1/NRF2 pathway.

Garcia Diaz, Beatriz; Emmanuele, Valentina; Balreira, Andrea; Lopez, Luis C; Tadesse, Saba; Krishna, Sindhu; Naini, Ali; Mariotti, Caterina; Castellotti, Barbara; Quinzii, Catarina M.[et al.] (Oxford University Press, 2015)

Ataxia oculomotor apraxia type 1 (AOA1) is an autosomal recessive disease caused by mutations in APTX, which encodes the DNA strand-break repair protein aprataxin (APTX). CoQ10 deficiency has been identified in fibroblasts ...