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Lysosomal integral membrane protein-2 (LIMP-2/SCARB2) is involved in lysosomal cholesterol export.
Heybrock S, Kanerva K, Meng Y, Ing C, Liang A, Xiong ZJ, Weng X, Ah Kim Y, Collins R, Trimble W, Pomès R, Privé GG, Annaert W, Schwake M, Heeren J, Lüllmann-Rauch R, Grinstein S, Ikonen E, Saftig P, Neculai D. Heybrock S, et al. Among authors: ikonen e. Nat Commun. 2019 Aug 6;10(1):3521. doi: 10.1038/s41467-019-11425-0. Nat Commun. 2019. PMID: 31387993 Free PMC article.
Role for LAMP-2 in endosomal cholesterol transport.
Schneede A, Schmidt CK, Hölttä-Vuori M, Heeren J, Willenborg M, Blanz J, Domanskyy M, Breiden B, Brodesser S, Landgrebe J, Sandhoff K, Ikonen E, Saftig P, Eskelinen EL. Schneede A, et al. Among authors: ikonen e. J Cell Mol Med. 2011 Feb;15(2):280-95. doi: 10.1111/j.1582-4934.2009.00973.x. J Cell Mol Med. 2011. PMID: 19929948 Free PMC article.
Severe neurodegenerative disease in brothers with homozygous mutation in POLR1A.
Kara B, Köroğlu Ç, Peltonen K, Steinberg RC, Maraş Genç H, Hölttä-Vuori M, Güven A, Kanerva K, Kotil T, Solakoğlu S, Zhou Y, Olkkonen VM, Ikonen E, Laiho M, Tolun A. Kara B, et al. Among authors: ikonen e. Eur J Hum Genet. 2017 Feb;25(3):315-323. doi: 10.1038/ejhg.2016.183. Epub 2017 Jan 4. Eur J Hum Genet. 2017. PMID: 28051070 Free PMC article.
268 results