Kornfeld S - Search Results

1

Mice lacking alpha/beta subunits of GlcNAc-1-phosphotransferase exhibit growth retardation, retinal degeneration, and secretory cell lesions.

Gelfman CM, Vogel P, Issa TM, Turner CA, Lee WS, Kornfeld S, Rice DS. Gelfman CM, et al. Among authors: kornfeld s. Invest Ophthalmol Vis Sci. 2007 Nov;48(11):5221-8. doi: 10.1167/iovs.07-0452. Invest Ophthalmol Vis Sci. 2007. PMID: 17962477

2

Murine UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase lacking the gamma-subunit retains substantial activity toward acid hydrolases.

Lee WS, Payne BJ, Gelfman CM, Vogel P, Kornfeld S. Lee WS, et al. Among authors: kornfeld s. J Biol Chem. 2007 Sep 14;282(37):27198-27203. doi: 10.1074/jbc.M704067200. Epub 2007 Jul 25. J Biol Chem. 2007. PMID: 17652091 Free article.

3

Role of spacer-1 in the maturation and function of GlcNAc-1-phosphotransferase.

Liu L, Lee WS, Doray B, Kornfeld S. Liu L, et al. Among authors: kornfeld s. FEBS Lett. 2017 Jan;591(1):47-55. doi: 10.1002/1873-3468.12525. Epub 2017 Jan 1. FEBS Lett. 2017. PMID: 27981560 Free PMC article.

4

Mice lacking mannose 6-phosphate uncovering enzyme activity have a milder phenotype than mice deficient for N-acetylglucosamine-1-phosphotransferase activity.

Boonen M, Vogel P, Platt KA, Dahms N, Kornfeld S. Boonen M, et al. Among authors: kornfeld s. Mol Biol Cell. 2009 Oct;20(20):4381-9. doi: 10.1091/mbc.e09-05-0398. Epub 2009 Aug 26. Mol Biol Cell. 2009. PMID: 19710420 Free PMC article.

5

Functions of the alpha, beta, and gamma subunits of UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase.

Qian Y, Lee I, Lee WS, Qian M, Kudo M, Canfield WM, Lobel P, Kornfeld S. Qian Y, et al. Among authors: kornfeld s. J Biol Chem. 2010 Jan 29;285(5):3360-70. doi: 10.1074/jbc.M109.068650. Epub 2009 Dec 2. J Biol Chem. 2010. PMID: 19955174 Free PMC article.

6

Identification of the minimal lysosomal enzyme recognition domain in cathepsin D.

Steet R, Lee WS, Kornfeld S. Steet R, et al. Among authors: kornfeld s. J Biol Chem. 2005 Sep 30;280(39):33318-23. doi: 10.1074/jbc.M505994200. Epub 2005 Aug 4. J Biol Chem. 2005. PMID: 16081416 Free article.

7

Multiple Domains of GlcNAc-1-phosphotransferase Mediate Recognition of Lysosomal Enzymes.

van Meel E, Lee WS, Liu L, Qian Y, Doray B, Kornfeld S. van Meel E, et al. Among authors: kornfeld s. J Biol Chem. 2016 Apr 8;291(15):8295-307. doi: 10.1074/jbc.M116.714568. Epub 2016 Feb 1. J Biol Chem. 2016. PMID: 26833567 Free PMC article.

8

Disease-causing missense mutations within the N-terminal transmembrane domain of GlcNAc-1-phosphotransferase impair endoplasmic reticulum translocation or Golgi retention.

Lee WS, Jennings BC, Doray B, Kornfeld S. Lee WS, et al. Among authors: kornfeld s. Hum Mutat. 2020 Jul;41(7):1321-1328. doi: 10.1002/humu.24019. Epub 2020 Apr 8. Hum Mutat. 2020. PMID: 32220096 Free PMC article.

9

Neurologic abnormalities in mouse models of the lysosomal storage disorders mucolipidosis II and mucolipidosis III γ.

Idol RA, Wozniak DF, Fujiwara H, Yuede CM, Ory DS, Kornfeld S, Vogel P. Idol RA, et al. Among authors: kornfeld s. PLoS One. 2014 Oct 14;9(10):e109768. doi: 10.1371/journal.pone.0109768. eCollection 2014. PLoS One. 2014. PMID: 25314316 Free PMC article.

10

Engineering of GlcNAc-1-Phosphotransferase for Production of Highly Phosphorylated Lysosomal Enzymes for Enzyme Replacement Therapy.

Liu L, Lee WS, Doray B, Kornfeld S. Liu L, et al. Among authors: kornfeld s. Mol Ther Methods Clin Dev. 2017 Mar 29;5:59-65. doi: 10.1016/j.omtm.2017.03.006. eCollection 2017 Jun 16. Mol Ther Methods Clin Dev. 2017. PMID: 28480305 Free PMC article.

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