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Cell type-selective targeted delivery of a recombinant lysosomal enzyme for enzyme therapies.
Mol Ther. 2021 Dec 1;29(12):3512-3524. doi: 10.1016/j.ymthe.2021.08.020. Epub 2021 Aug 14.
Mol Ther. 2021.
PMID: 34400331
Free PMC article.
A murine Niemann-Pick C1 I1061T knock-in model recapitulates the pathological features of the most prevalent human disease allele.
Praggastis M, Tortelli B, Zhang J, Fujiwara H, Sidhu R, Chacko A, Chen Z, Chung C, Lieberman AP, Sikora J, Davidson C, Walkley SU, Pipalia NH, Maxfield FR, Schaffer JE, Ory DS.
Praggastis M, et al.
J Neurosci. 2015 May 27;35(21):8091-106. doi: 10.1523/JNEUROSCI.4173-14.2015.
J Neurosci. 2015.
PMID: 26019327
Free PMC article.
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Reduction of TMEM97 increases NPC1 protein levels and restores cholesterol trafficking in Niemann-pick type C1 disease cells.
Ebrahimi-Fakhari D, Wahlster L, Bartz F, Werenbeck-Ueding J, Praggastis M, Zhang J, Joggerst-Thomalla B, Theiss S, Grimm D, Ory DS, Runz H.
Ebrahimi-Fakhari D, et al. Among authors: praggastis m.
Hum Mol Genet. 2016 Aug 15;25(16):3588-3599. doi: 10.1093/hmg/ddw204. Epub 2016 Jul 4.
Hum Mol Genet. 2016.
PMID: 27378690
Free PMC article.
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