July 19, 2018 ~ Clearwater Beach, FL

Pathomechanism(s) of Barth Syndrome

Genetically modified mouse models of Barth syndrome
William T. Pu, MD — Boston Children´s Hospital, Boston, MA

Defective mitochondrial Ca2 + uptake in heart, but not skeletal muscle in Barth syndrome
Christoph Maack, MD — University Clinic Würzburg, Würzburg, Germany

Activation of the mitochondrial stress response underlies a specific heart phenotype in Barth syndrome
Douglas Strathdee, PhD — Cancer Research UK Beatson Institute, Glasgow, United Kingdom

Nicotinamide replacement improves mitochondrial function in preclinical models of Barth syndrome
Christian Reynolds, PhD — Wayne State University, Detroit, MI

Increased ROS-mediated CaMKII activation contributes to Barth syndrome iPS-CMs pathogenesis
Xujie Liu, PhD — Boston Children’s Hospital, Boston, MA

Altered islet function may promote a lean phenotype in tafazzin deficient mice
Laura Cole, PhD — University of Manitoba, Winnipeg, Canada