Muschol N - Search Results

1

The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations.

Velho RV, Harms FL, Danyukova T, Ludwig NF, Friez MJ, Cathey SS, Filocamo M, Tappino B, Güneş N, Tüysüz B, Tylee KL, Brammeier KL, Heptinstall L, Oussoren E, van der Ploeg AT, Petersen C, Alves S, Saavedra GD, Schwartz IV, Muschol N, Kutsche K, Pohl S. Velho RV, et al. Among authors: muschol n. Hum Mutat. 2019 Jul;40(7):842-864. doi: 10.1002/humu.23748. Epub 2019 Apr 13. Hum Mutat. 2019. PMID: 30882951

2

Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III A.

Muschol N, Storch S, Ballhausen D, Beesley C, Westermann JC, Gal A, Ullrich K, Hopwood JJ, Winchester B, Braulke T. Muschol N, et al. Hum Mutat. 2004 Jun;23(6):559-66. doi: 10.1002/humu.20037. Hum Mutat. 2004. PMID: 15146460

3

A novel mutation in UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) in two siblings with mucolipidosis type III alters a used glycosylation site.

Tiede S, Cantz M, Raas-Rothschild A, Muschol N, Bürger F, Ullrich K, Braulke T. Tiede S, et al. Among authors: muschol n. Hum Mutat. 2004 Dec;24(6):535. doi: 10.1002/humu.9293. Hum Mutat. 2004. PMID: 15532026

4

Missense mutations in N-acetylglucosamine-1-phosphotransferase alpha/beta subunit gene in a patient with mucolipidosis III and a mild clinical phenotype.

Tiede S, Muschol N, Reutter G, Cantz M, Ullrich K, Braulke T. Tiede S, et al. Among authors: muschol n. Am J Med Genet A. 2005 Sep 1;137A(3):235-40. doi: 10.1002/ajmg.a.30868. Am J Med Genet A. 2005. PMID: 16094673

5

The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome).

Meyer A, Kossow K, Gal A, Steglich C, Mühlhausen C, Ullrich K, Braulke T, Muschol N. Meyer A, et al. Among authors: muschol n. Hum Mutat. 2008 May;29(5):770. doi: 10.1002/humu.20738. Hum Mutat. 2008. PMID: 18407553

6

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. Among authors: muschol n. 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

7

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: muschol n. 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.

8

Residual activity and proteasomal degradation of p.Ser298Pro sulfamidase identified in patients with a mild clinical phenotype of Sanfilippo A syndrome.

Muschol N, Pohl S, Meyer A, Gal A, Ullrich K, Braulke T. Muschol N, et al. Am J Med Genet A. 2011 Jul;155A(7):1634-9. doi: 10.1002/ajmg.a.34053. Epub 2011 Jun 10. Am J Med Genet A. 2011. PMID: 21671382

9

The Lysosomal Protein Arylsulfatase B Is a Key Enzyme Involved in Skeletal Turnover.

Pohl S, Angermann A, Jeschke A, Hendrickx G, Yorgan TA, Makrypidi-Fraune G, Steigert A, Kuehn SC, Rolvien T, Schweizer M, Koehne T, Neven M, Winter O, Velho RV, Albers J, Streichert T, Pestka JM, Baldauf C, Breyer S, Stuecker R, Muschol N, Cox TM, Saftig P, Paganini C, Rossi A, Amling M, Braulke T, Schinke T. Pohl S, et al. Among authors: muschol n. J Bone Miner Res. 2018 Dec;33(12):2186-2201. doi: 10.1002/jbmr.3563. Epub 2018 Aug 24. J Bone Miner Res. 2018. PMID: 30075049 Free article.

10

"Missing mutations" in MPS I: Identification of two novel copy number variations by an IDUA-specific in house MLPA assay.

Jahic A, Günther S, Muschol N, Fossøy Stadheim B, Braaten Ø, Kjensli Hyldebrandt H, Kuiper GA, Tylee K, Wijburg FA, Beetz C. Jahic A, et al. Among authors: muschol n. Mol Genet Genomic Med. 2019 Sep;7(9):e00615. doi: 10.1002/mgg3.615. Epub 2019 Jul 18. Mol Genet Genomic Med. 2019. PMID: 31319022 Free PMC article. Clinical Trial.

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