Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

24 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
GORAB Missense Mutations Disrupt RAB6 and ARF5 Binding and Golgi Targeting.
Egerer J, Emmerich D, Fischer-Zirnsak B, Chan WL, Meierhofer D, Tuysuz B, Marschner K, Sauer S, Barr FA, Mundlos S, Kornak U. Egerer J, et al. Among authors: marschner k. J Invest Dermatol. 2015 Oct;135(10):2368-2376. doi: 10.1038/jid.2015.192. Epub 2015 May 22. J Invest Dermatol. 2015. PMID: 26000619 Free article.
Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.
Kolanczyk M, Krawitz P, Hecht J, Hupalowska A, Miaczynska M, Marschner K, Schlack C, Emmerich D, Kobus K, Kornak U, Robinson PN, Plecko B, Grangl G, Uhrig S, Mundlos S, Horn D. Kolanczyk M, et al. Among authors: marschner k. Eur J Hum Genet. 2015 May;23(5):633-8. doi: 10.1038/ejhg.2014.109. Epub 2014 Jun 11. Eur J Hum Genet. 2015. PMID: 24916641 Free PMC article.
Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.
Kolanczyk M, Krawitz P, Hecht J, Hupalowska A, Miaczynska M, Marschner K, Schlack C, Emmerich D, Kobus K, Kornak U, Robinson PN, Plecko B, Grangl G, Uhrig S, Mundlos S, Horn D. Kolanczyk M, et al. Among authors: marschner k. Eur J Hum Genet. 2015 May;23(5):720. doi: 10.1038/ejhg.2014.278. Eur J Hum Genet. 2015. PMID: 25880334 Free PMC article. No abstract available.
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: marschner k. 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.
Proteolytic processing of the gamma-subunit is associated with the failure to form GlcNAc-1-phosphotransferase complexes and mannose 6-phosphate residues on lysosomal enzymes in human macrophages.
Pohl S, Tiede S, Marschner K, Encarnação M, Castrichini M, Kollmann K, Muschol N, Ullrich K, Müller-Loennies S, Braulke T. Pohl S, et al. Among authors: marschner k. J Biol Chem. 2010 Jul 30;285(31):23936-44. doi: 10.1074/jbc.M110.129684. Epub 2010 May 19. J Biol Chem. 2010. PMID: 20489197 Free PMC article.
24 results