Kornfeld S - Search Results

1

Rare recessive loss-of-function methionyl-tRNA synthetase mutations presenting as a multi-organ phenotype.

van Meel E, Wegner DJ, Cliften P, Willing MC, White FV, Kornfeld S, Cole FS. van Meel E, et al. Among authors: kornfeld s. BMC Med Genet. 2013 Oct 8;14:106. doi: 10.1186/1471-2350-14-106. BMC Med Genet. 2013. PMID: 24103465 Free PMC article.

2

Tuberous sclerosis, polycystic kidney disease and mucolipidosis III gamma caused by a microdeletion unmasking a recessive mutation.

Barea JJ, van Meel E, Kornfeld S, Bird LM. Barea JJ, et al. Among authors: kornfeld s. Am J Med Genet A. 2015 Nov;167A(11):2844-6. doi: 10.1002/ajmg.a.37213. Epub 2015 Jun 24. Am J Med Genet A. 2015. PMID: 26108976 Free PMC article. No abstract available.

3

Mucolipidosis III GNPTG Missense Mutations Cause Misfolding of the γ Subunit of GlcNAc-1-Phosphotransferase.

van Meel E, Kornfeld S. van Meel E, et al. Among authors: kornfeld s. Hum Mutat. 2016 Jul;37(7):623-6. doi: 10.1002/humu.22993. Epub 2016 Apr 22. Hum Mutat. 2016. PMID: 27038293 Free PMC article.

4

Mislocalization of phosphotransferase as a cause of mucolipidosis III αβ.

van Meel E, Qian Y, Kornfeld SA. van Meel E, et al. Proc Natl Acad Sci U S A. 2014 Mar 4;111(9):3532-7. doi: 10.1073/pnas.1401417111. Epub 2014 Feb 18. Proc Natl Acad Sci U S A. 2014. PMID: 24550498 Free PMC article.

5

The DMAP interaction domain of UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase is a substrate recognition module.

Qian Y, Flanagan-Steet H, van Meel E, Steet R, Kornfeld SA. Qian Y, et al. Proc Natl Acad Sci U S A. 2013 Jun 18;110(25):10246-51. doi: 10.1073/pnas.1308453110. Epub 2013 Jun 3. Proc Natl Acad Sci U S A. 2013. PMID: 23733939 Free PMC article.

6

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.

7

Vacuolization of mucolipidosis type II mouse exocrine gland cells represents accumulation of autolysosomes.

Boonen M, van Meel E, Oorschot V, Klumperman J, Kornfeld S. Boonen M, et al. Among authors: kornfeld s. Mol Biol Cell. 2011 Apr 15;22(8):1135-47. doi: 10.1091/mbc.E10-07-0584. Epub 2011 Feb 16. Mol Biol Cell. 2011. PMID: 21325625 Free PMC article.

8

Analysis of mucolipidosis II/III GNPTAB missense mutations identifies domains of UDP-GlcNAc:lysosomal enzyme GlcNAc-1-phosphotransferase involved in catalytic function and lysosomal enzyme recognition.

Qian Y, van Meel E, Flanagan-Steet H, Yox A, Steet R, Kornfeld S. Qian Y, et al. Among authors: kornfeld s. J Biol Chem. 2015 Jan 30;290(5):3045-56. doi: 10.1074/jbc.M114.612507. Epub 2014 Dec 11. J Biol Chem. 2015. PMID: 25505245 Free PMC article.

9

The lysosomal enzyme receptor protein (LERP) is not essential, but is implicated in lysosomal function in Drosophila melanogaster.

Hasanagic M, van Meel E, Luan S, Aurora R, Kornfeld S, Eissenberg JC. Hasanagic M, et al. Among authors: kornfeld s. Biol Open. 2015 Sep 24;4(10):1316-25. doi: 10.1242/bio.013334. Biol Open. 2015. PMID: 26405051 Free PMC article.

10

Exome sequencing for mucolipidosis III: Detection of a novel GNPTAB gene mutation in a patient with a very mild phenotype.

Sperb-Ludwig F, Alegra T, Velho RV, Ludwig N, Kim CA, Kok F, Kitajima JP, van Meel E, Kornfeld S, Burin MG, Schwartz IVD. Sperb-Ludwig F, et al. Among authors: kornfeld s. Mol Genet Metab Rep. 2014 Dec 5;2:34-37. doi: 10.1016/j.ymgmr.2014.12.001. eCollection 2015 Mar. Mol Genet Metab Rep. 2014. PMID: 28649523 Free PMC article.

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