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Page 1
Coatopathies: Genetic Disorders of Protein Coats.
Dell'Angelica EC, Bonifacino JS. Dell'Angelica EC, et al. Annu Rev Cell Dev Biol. 2019 Oct 6;35:131-168. doi: 10.1146/annurev-cellbio-100818-125234. Epub 2019 Aug 9. Annu Rev Cell Dev Biol. 2019. PMID: 31399000 Free PMC article. Review.
Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics.
De Pace R, Maroofian R, Paimboeuf A, Zamani M, Zaki MS, Sadeghian S, Azizimalamiri R, Galehdari H, Zeighami J, Williamson CD, Fleming E, Zhou D, Gannon JL, Thiffault I, Roze E, Suri M, Zifarelli G, Bauer P, Houlden H, Severino M, Patten SA, Farrow E, Bonifacino JS. De Pace R, et al. Brain. 2024 May 3;147(5):1751-1767. doi: 10.1093/brain/awad427. Brain. 2024. PMID: 38128568 Free PMC article.
TSSC1 is novel component of the endosomal retrieval machinery.
Gershlick DC, Schindler C, Chen Y, Bonifacino JS. Gershlick DC, et al. Mol Biol Cell. 2016 Sep 15;27(18):2867-78. doi: 10.1091/mbc.E16-04-0209. Epub 2016 Jul 20. Mol Biol Cell. 2016. PMID: 27440922 Free PMC article.
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