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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: ali mh. Hum Genet. 2021 Apr;140(4):649-666. doi: 10.1007/s00439-020-02238-z. Epub 2021 Jan 2. Hum Genet. 2021. PMID: 33389129
The role of FYCO1-dependent autophagy in lens fiber cell differentiation.
Khan SY, Ali M, Kabir F, Na CH, Delannoy M, Ma Y, Qiu C, Costello MJ, Hejtmancik JF, Riazuddin SA. Khan SY, et al. Among authors: ali m. Autophagy. 2022 Sep;18(9):2198-2215. doi: 10.1080/15548627.2022.2025570. Epub 2022 Mar 28. Autophagy. 2022. PMID: 35343376 Free PMC article.
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