PTCD1 Is required for mitochondrial oxidative-phosphorylation: possible genetic association with Alzheimer's disease

Fleck D, Phu L, Verschueren E, Hinkle T, Reichelt M, Bhangale T, Haley B, Wang Y, Graham R, Kirkpatrick DS, Sheng M, Bingol B.

Journal of Neuroscience, 2019


PTCD1 was identified as an Alzheimer's target using whole-exome sequencing data of 4549 cases with 3332 age-matched controls. The role of PTCD1 in mitochondrial function and synaptic activity of neurons is investigated.

Keywords: Alzheimer's disease, AD, neurodegeneration, whole-exome sequencing, PTCD1, mitochondrial dysfunction, oxidative phosphorylation, metabolism