Exome sequencing in HFE C282Y homozygous men with extreme phenotypes identifies a GNPAT variant associated with severe iron overload

Christine E. McLaren, Mary J. Emond, V. Nathan Subramaniam, Pradyumna D. Phatak, James C. Barton, Paul C. Adams, Justin B. Goh, Cameron J. McDonald, Lawrie W. Powell, Lyle C. Gurrin, Katrina J. Allen, Deborah A. Nickerson, Tin Louie, Grant A. Ramm, Gregory J. Anderson, Gordon D.

Valproic acid‐induced hepatotoxicity in alpers syndrome is associated with mitochondrial permeability transition pore opening‐dependent apoptotic sensitivity in an induced pluripotent stem cell model

Shengbiao Li, Jingyi Guo, Zhongfu Ying, Shen Chen, Liang Yang, Keshi Chen, Qi Long, Dajiang Qin, Duanqing Pei, Xingguo Liu – 20 January 2015 – Valproic acid (VPA) is widely used to treat epilepsy, migraine, chronic headache, bipolar disorder, and as adjuvant chemotherapy, but potentially causes idiosyncratic liver injury. Alpers‐Huttenlocher syndrome (AHS), a neurometabolic disorder caused by mutations in mitochondrial DNA polymerase gamma (POLG), is associated with an increased risk of developing fatal VPA hepatotoxicity.

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