Zur Kurzanzeige

Untersuchungen zur molekularen Ursache der Multiplen Sulfatase-Defizienz: Reinigung, Funktions- und Strukturanalyse von varianten Proteinen des Formylglycin-generierenden Enzyms

dc.contributor.advisorRehling, Peter Prof. Dr.
dc.contributor.authorMühlhausen, Helene
dc.date.accessioned2014-12-05T09:58:29Z
dc.date.available2015-01-21T23:50:05Z
dc.date.issued2014-12-05
dc.identifier.urihttp://hdl.handle.net/11858/00-1735-0000-0023-9953-2
dc.identifier.urihttp://dx.doi.org/10.53846/goediss-4808
dc.language.isodeude
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/3.0/
dc.subject.ddc610de
dc.titleUntersuchungen zur molekularen Ursache der Multiplen Sulfatase-Defizienz: Reinigung, Funktions- und Strukturanalyse von varianten Proteinen des Formylglycin-generierenden Enzymsde
dc.typedoctoralThesisde
dc.title.translatedThe molecular cause of multiple sulfatase deficiency: cleaning, functional and structural analysis of variant proteins of formylglycine-generating enzymede
dc.contributor.refereeSchön, Margarete Prof. Dr.
dc.date.examination2015-01-14
dc.description.abstractengThe Multiple sulfatase deficiency (MSD) is an inherited metabolic disease caused by mutations in the SUMF1 gene. The encoded ER-located Cα-formylglycine-generating enzyme (FGE) catalyzes the activation of newly synthesized sulfatases by cotranslationally oxidizing a conserved cysteine residue to the Cα-formylglycine (FGly), the catalytically active amino acid residue of sulfatases. Some FGE mutants have already been characterized biochemically and initial assumptions about the relationship between genotype and phenotype of the disease are set up. Crystallization of the FGE-WT enabled - about the localization of the mutations in the model - to make predictions in terms of their expected damage. The confirmation of the suspected relationship between genotypic and phenotypic specificities effects, using the crystal structure model of a FGE mutant could not be achieved to date. Currently no data from completely purified FGE mutants exists.de
dc.contributor.coRefereeZweckstetter, Markus Prof. Dr.
dc.subject.gerFormylglycin generierendes Enzymde
dc.subject.gerMultiple Sulfatase Defizienzde
dc.subject.gerAufreinigungde
dc.subject.gerMutantende
dc.subject.gerAffinitätschromatographiede
dc.subject.gerAnionenaustauschchromatographiede
dc.subject.gerSubstratbindungde
dc.subject.gerKristallstrukturde
dc.subject.engFGEde
dc.subject.engmutantsde
dc.subject.engpurificationde
dc.subject.engsubstrate bindingde
dc.subject.engcrystal structurede
dc.subject.engmultiple sulfatase deficiencyde
dc.subject.engformylglycine generating enzymede
dc.subject.engaffinity chromatographyde
dc.subject.engvariant proteinsde
dc.identifier.urnurn:nbn:de:gbv:7-11858/00-1735-0000-0023-9953-2-3
dc.affiliation.instituteMedizinische Fakultätde
dc.subject.gokfullMedizin (PPN619874732)de
dc.description.embargoed2015-01-21
dc.identifier.ppn810737655


Dateien

Thumbnail

Das Dokument erscheint in:

Zur Kurzanzeige