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A missense allele of PEX5 is responsible for the defective import of PTS2 cargo proteins into peroxisomes.
Ali M, Khan SY, Rodrigues TA, Francisco T, Jiao X, Qi H, Kabir F, Irum B, Rauf B, Khan AA, Mehmood A, Naeem MA, Assir MZ, Ali MH, Shahzad M, Abu-Amero KK, Akram SJ, Akram J, Riazuddin S, Riazuddin S, Robinson ML, Baes M, Azevedo JE, Hejtmancik JF, Riazuddin SA. Ali M, et al. Among authors: azevedo je. Hum Genet. 2021 Apr;140(4):649-666. doi: 10.1007/s00439-020-02238-z. Epub 2021 Jan 2. Hum Genet. 2021. PMID: 33389129
PEX13 Enters the RING, Lives Fast, Dies Young.
Rodrigues TA, Francisco T, Azevedo JE. Rodrigues TA, et al. Among authors: azevedo je. J Mol Biol. 2018 May 25;430(11):1559-1561. doi: 10.1016/j.jmb.2018.04.005. Epub 2018 Apr 12. J Mol Biol. 2018. PMID: 29655985 No abstract available.
102 results