Article
Generation and characterization of induced pluripotent stem cell (iPSC) line (JUCTCi002-A) from a patient with ataxia with oculomotor apraxia type 1 (AOA1) harboring a homozygous mutation in the APTX gene.
Stem cell research - 1 Oct 2020
Ababneh Nidaa A, Al-Kurdi Ban, Ali Dema, Abuarqoub Duaa, Barham Raghda, Alzibdeh Abdulla M, Khanfar Asim N, Altantawi Ahmad M, Ryalat Abdee T, Sharrack Basil, Awidi Abdalla
Abstract excerpt
Ataxia with Oculomotor Apraxia Type 1 (AOA1) is an autosomal-recessive cerebellar ataxia characterized by early-onset cerebellar atrophy and axonal sensorimotor polyneuropathy. AOA1 is related to mutations in the aprataxin (APTX) gene encoding for the aprataxin protein. The aprataxin protein has been reported to be involved in DNA single-strand break repair (SSBR) machinery and it localizes to the mitochondria to...
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