Article
CRISPR-mediated gene correction links the ATP7A M1311V mutations with amyotrophic lateral sclerosis pathogenesis in one individual.
Communications biology - 20 Jan 2020
Yun Yeomin, Hong Sung-Ah, Kim Ka-Kyung, Baek Daye, Lee Dongsu, Londhe Ashwini M, Lee Minhyung, Yu Jihyeon, McEachin Zachary T, Bassell Gary J, Bowser Robert, Hales Chadwick M, Cho Sung-Rae, Kim Janghwan, Pae Ae Nim, Cheong Eunji, Kim Sangwoo, Boulis Nicholas M, Bae Sangsu, Ha Yoon
Abstract excerpt
Amyotrophic lateral sclerosis (ALS) is a severe disease causing motor neuron death, but a complete cure has not been developed and related genes have not been defined in more than 80% of cases. Here we compared whole genome sequencing results from a male ALS patient and his healthy parents to identify relevant variants, and chose one variant in the X-linked ATP7A gene, M1311V, as a strong disease-linked candidate...
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