Muschol NM - Search Results

1

Pathogenic variants in GNPTAB and GNPTG encoding distinct subunits of GlcNAc-1-phosphotransferase differentially impact bone resorption in patients with mucolipidosis type II and III.

Di Lorenzo G, Westermann LM, Yorgan TA, Stürznickel J, Ludwig NF, Ammer LS, Baranowsky A, Ahmadi S, Pourbarkhordariesfandabadi E, Breyer SR, Board TN, Foster A, Mercer J, Tylee K, Velho RV, Schweizer M, Renné T, Braulke T, Randon DN, Sperb-Ludwig F, de Camargo Pinto LL, Moreno CA, Cavalcanti DP, Amling M, Kutsche K, Winter D, Muschol NM, Schwartz IVD, Rolvien T, Danyukova T, Schinke T, Pohl S. Di Lorenzo G, et al. Among authors: muschol nm. Genet Med. 2021 Dec;23(12):2369-2377. doi: 10.1038/s41436-021-01285-9. Epub 2021 Aug 2. Genet Med. 2021. PMID: 34341521 Free PMC article.

2

Secretion of phosphomannosyl-deficient arylsulphatase A and cathepsin D from isolated human macrophages.

Muschol N, Matzner U, Tiede S, Gieselmann V, Ullrich K, Braulke T. Muschol N, et al. Biochem J. 2002 Dec 15;368(Pt 3):845-53. doi: 10.1042/BJ20020249. Biochem J. 2002. PMID: 12296771 Free PMC article.

3

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

4

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. Hum Mutat. 2004 Dec;24(6):535. doi: 10.1002/humu.9293. Hum Mutat. 2004. PMID: 15532026

5

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. 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

6

Disease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase (GCDH).

Keyser B, Mühlhausen C, Dickmanns A, Christensen E, Muschol N, Ullrich K, Braulke T. Keyser B, et al. Hum Mol Genet. 2008 Dec 15;17(24):3854-63. doi: 10.1093/hmg/ddn284. Epub 2008 Sep 5. Hum Mol Genet. 2008. PMID: 18775954

7

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

8

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. 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.

9

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

10

Mannose 6 phosphorylation of lysosomal enzymes controls B cell functions.

Otomo T, Schweizer M, Kollmann K, Schumacher V, Muschol N, Tolosa E, Mittrücker HW, Braulke T. Otomo T, et al. J Cell Biol. 2015 Jan 19;208(2):171-80. doi: 10.1083/jcb.201407077. J Cell Biol. 2015. PMID: 25601403 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

78 results

Search Page