Pohl S - Search Results

1

Combined in vitro and in silico analyses of missense mutations in GNPTAB provide new insights into the molecular bases of mucolipidosis II and III alpha/beta.

Danyukova T, Ludwig NF, Velho RV, Harms FL, Güneş N, Tidow H, Schwartz IV, Tüysüz B, Pohl S. Danyukova T, et al. Among authors: pohl s. Hum Mutat. 2020 Jan;41(1):133-139. doi: 10.1002/humu.23928. Epub 2019 Oct 14. Hum Mutat. 2020. PMID: 31579991

2

Molecular analysis of the GlcNac-1-phosphotransferase.

Braulke T, Pohl S, Storch S. Braulke T, et al. Among authors: pohl s. J Inherit Metab Dis. 2008 Apr;31(2):253-7. doi: 10.1007/s10545-008-0862-5. Epub 2008 Apr 15. J Inherit Metab Dis. 2008. PMID: 18425436 Review.

3

Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTG) gene in patients with mucolipidosis III gamma.

Persichetti E, Chuzhanova NA, Dardis A, Tappino B, Pohl S, Thomas NS, Rosano C, Balducci C, Paciotti S, Dominissini S, Montalvo AL, Sibilio M, Parini R, Rigoldi M, Di Rocco M, Parenti G, Orlacchio A, Bembi B, Cooper DN, Filocamo M, Beccari T. Persichetti E, et al. Among authors: pohl s. Hum Mutat. 2009 Jun;30(6):978-84. doi: 10.1002/humu.20959. Hum Mutat. 2009. PMID: 19370764

4

Mannose phosphorylation in health and disease.

Kollmann K, Pohl S, Marschner K, Encarnação M, Sakwa I, Tiede S, Poorthuis BJ, Lübke T, Müller-Loennies S, Storch S, Braulke T. Kollmann K, et al. Among authors: pohl s. Eur J Cell Biol. 2010 Jan;89(1):117-23. doi: 10.1016/j.ejcb.2009.10.008. Epub 2009 Nov 28. Eur J Cell Biol. 2010. PMID: 19945768 Review.

5

Loss of N-acetylglucosamine-1-phosphotransferase gamma subunit due to intronic mutation in GNPTG causes mucolipidosis type III gamma: Implications for molecular and cellular diagnostics.

Pohl S, Encarnacão M, Castrichini M, Müller-Loennies S, Muschol N, Braulke T. Pohl S, et al. Am J Med Genet A. 2010 Jan;152A(1):124-32. doi: 10.1002/ajmg.a.33170. Am J Med Genet A. 2010. PMID: 20034096

6

Mucolipidosis II-related mutations inhibit the exit from the endoplasmic reticulum and proteolytic cleavage of GlcNAc-1-phosphotransferase precursor protein (GNPTAB).

De Pace R, Coutinho MF, Koch-Nolte F, Haag F, Prata MJ, Alves S, Braulke T, Pohl S. De Pace R, et al. Among authors: pohl s. Hum Mutat. 2014 Mar;35(3):368-76. doi: 10.1002/humu.22502. Epub 2014 Jan 15. Hum Mutat. 2014. PMID: 24375680

7

Analyses of disease-related GNPTAB mutations define a novel GlcNAc-1-phosphotransferase interaction domain and an alternative site-1 protease cleavage site.

Velho RV, De Pace R, Klünder S, Sperb-Ludwig F, Lourenço CM, Schwartz IV, Braulke T, Pohl S. Velho RV, et al. Among authors: pohl s. Hum Mol Genet. 2015 Jun 15;24(12):3497-505. doi: 10.1093/hmg/ddv100. Epub 2015 Mar 18. Hum Mol Genet. 2015. PMID: 25788519 Free PMC article.

8

Site-1 protease-activated formation of lysosomal targeting motifs is independent of the lipogenic transcription control.

Klünder S, Heeren J, Markmann S, Santer R, Braulke T, Pohl S. Klünder S, et al. Among authors: pohl s. J Lipid Res. 2015 Aug;56(8):1625-32. doi: 10.1194/jlr.M060756. Epub 2015 Jun 24. J Lipid Res. 2015. PMID: 26108224 Free PMC article.

9

Subunit interactions of the disease-related hexameric GlcNAc-1-phosphotransferase complex.

De Pace R, Velho RV, Encarnação M, Marschner K, Braulke T, Pohl S. De Pace R, et al. Among authors: pohl s. Hum Mol Genet. 2015 Dec 1;24(23):6826-35. doi: 10.1093/hmg/ddv387. Epub 2015 Sep 18. Hum Mol Genet. 2015. PMID: 26385638

10

Identification of the interaction domains between α- and γ-subunits of GlcNAc-1-phosphotransferase.

Velho RV, De Pace R, Tidow H, Braulke T, Pohl S. Velho RV, et al. Among authors: pohl s. FEBS Lett. 2016 Dec;590(23):4287-4295. doi: 10.1002/1873-3468.12456. Epub 2016 Oct 25. FEBS Lett. 2016. PMID: 27736005 Free article.

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