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TPC2 rescues lysosomal storage in mucolipidosis type IV, Niemann-Pick type C1, and Batten disease.
EMBO Mol Med. 2022 Sep 7;14(9):e15377. doi: 10.15252/emmm.202115377. Epub 2022 Aug 5.
EMBO Mol Med. 2022.
PMID: 35929194
Free PMC article.
Principles of antibodies with ultralong complementarity-determining regions and picobodies.
Passon M, De Smedt S, Svilenov HL.
Passon M, et al.
Biotechnol Adv. 2023 May-Jun;64:108120. doi: 10.1016/j.biotechadv.2023.108120. Epub 2023 Feb 9.
Biotechnol Adv. 2023.
PMID: 36764335
Review.
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Human genome diversity data reveal that L564P is the predominant TPC2 variant and a prerequisite for the blond hair associated M484L gain-of-function effect.
Böck J, Krogsaeter E, Passon M, Chao YK, Sharma S, Grallert H, Peters A, Grimm C.
Böck J, et al. Among authors: passon m.
PLoS Genet. 2021 Jan 19;17(1):e1009236. doi: 10.1371/journal.pgen.1009236. eCollection 2021 Jan.
PLoS Genet. 2021.
PMID: 33465068
Free PMC article.
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