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Skarnes WC, Pellegrino E, McDonough JA. Improving homology-directed repair efficiency in human stem cells. Methods. 2019 Jul 15; 164-165:18-28.
Klickstein JA, Johnson MA, Antonoudiou P, Maguire J, Paulo JA, Gygi SP, Weihl C, Raman M. ALS-related p97 R155H mutation disrupts lysophagy in iPSC-derived motor neurons. Stem Cell Reports. 2024 Mar 12; 19(3):366-82.
Khan M, Chen XXL, Dias M, Santos JR, Kour S, You J, van Bruggen R, Youssef MMM, Wan YW, Liu Z, Rosenfeld JA, Tan Q, Pandey UB, Yalamanchili HK, Park J. MATR3 pathogenic variants differentially impair its cryptic splicing repression function. FEBS Lett. 2024 Feb; 598(4):415-36.
Sampognaro PJ, Arya S, Knudsen GM, Gunderson EL, Sandoval-Perez A, Hodul M, Bowles K, Craik CS, Jacobson MP, Kao AW. Mutations in alpha-synuclein, TDP-43 and tau prolong protein half-life through diminished degradation by lysosomal proteases. Mol Neurodegener. 2023 May 2; 18(1):29.
Lee H, Cho S, Kim MJ, Park YJ, Cho E, Jo YS, Kim YS, Lee JY, Thoudam T, Woo SH, Lee SI, Jeon J, Lee YS, Suh BC, Yoon JH, Go Y, Lee IK, Seo J. ApoE4-dependent lysosomal cholesterol accumulation impairs mitochondrial homeostasis and oxidative phosphorylation in human astrocytes. Cell Rep. 2023 Oct 31; 42(10):113183.Klickstein JA, Johnson MA, Antonoudiou P, Maguire J, Paulo JA, Gygi SP, Weihl C, Raman M. ALS-related p97 R155H mutation disrupts lysophagy in iPSC-derived motor neurons. Stem Cell Reports. 2024 Mar 12; 19(3):366-82.
Khan M, Chen XXL, Dias M, Santos JR, Kour S, You J, van Bruggen R, Youssef MMM, Wan YW, Liu Z, Rosenfeld JA, Tan Q, Pandey UB, Yalamanchili HK, Park J. MATR3 pathogenic variants differentially impair its cryptic splicing repression function. FEBS Lett. 2024 Feb; 598(4):415-36.
Sampognaro PJ, Arya S, Knudsen GM, Gunderson EL, Sandoval-Perez A, Hodul M, Bowles K, Craik CS, Jacobson MP, Kao AW. Mutations in alpha-synuclein, TDP-43 and tau prolong protein half-life through diminished degradation by lysosomal proteases. Mol Neurodegener. 2023 May 2; 18(1):29.
Lee H, Cho S, Kim MJ, Park YJ, Cho E, Jo YS, Kim YS, Lee JY, Thoudam T, Woo SH, Lee SI, Jeon J, Lee YS, Suh BC, Yoon JH, Go Y, Lee IK, Seo J. ApoE4-dependent lysosomal cholesterol accumulation impairs mitochondrial homeostasis and oxidative phosphorylation in human astrocytes. Cell Rep. 2023 Oct 31; 42(10):113183.
Funes S, Gadd DH, Mosqueda M, Zhong J, Jung J, Shankaracharya, Unger M, Cameron D, Dawes P, Keagle PJ, McDonough JA, Boopathy S, Sena-Esteves M, Lutz C, Skarnes WC, Lim ET, Schafer DP, Massi F, Landers JE, Bosco DA. Expression of ALS-PFN1 impairs vesicular degradation in iPSC-derived microglia. Nature Communications. 2024 Mar 20; 15(1):2497. Lin YC, Kumar MS, Ramesh N, Anderson EN, Nguyen AT, Kim B, Cheung S, McDonough JA, Skarnes WC, Lopez-Gonzalez R, Landers JE, Fawzi NL, Mackenzie IRA, Lee EB, Nickerson JA, Grunwald D, Pandey UB, Bosco DA. Interactions between ALS-linked FUS and nucleoporins are associated with defects in the nucleocytoplasmic transport pathway. Nat Neurosci. 2021 Aug; 24(8):1077-88.
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