Thoms, Sven

[["dc.bibliographiccitation.firstpage","293"],["dc.bibliographiccitation.issue","7"],["dc.bibliographiccitation.journal","Trends in Molecular Medicine"],["dc.bibliographiccitation.lastpage","302"],["dc.bibliographiccitation.volume","15"],["dc.contributor.author","Thoms, Sven"],["dc.contributor.author","Gronborg, Sabine"],["dc.contributor.author","Gärtner, Jutta"],["dc.date.accessioned","2017-09-07T11:47:25Z"],["dc.date.available","2017-09-07T11:47:25Z"],["dc.date.issued","2009"],["dc.description.abstract","Peroxisomes are no longer regarded as autonomous organelles because evidence for their interplay with other cellular organelles is emerging. Peroxisomes interact with mitochondria in several metabolic pathways, including P-oxidation of fatty acids and the metabolism of reactive oxygen species. Both organelles are in close contact with the endoplasmic reticulum (ER) and share several proteins, including organelle fission factors. Today, the study of peroxisome biogenesis disorders mainly focuses on metabolic defects such as accumulation of very long chain fatty acids or plasmalogen deficiency. In addition to metabolic dysregulation, mitochondria and ER abnormalities have also been observed. Whether these contribute to disease pathology is not yet known, but recent findings suggest that this possibility should be considered. Here, we discuss the potential involvement of organelle interplay in peroxisomal disorders."],["dc.identifier.doi","10.1016/j.molmed.2009.05.002"],["dc.identifier.gro","3143096"],["dc.identifier.isi","000268616800002"],["dc.identifier.pmid","19560974"],["dc.identifier.purl","https://resolver.sub.uni-goettingen.de/purl?gs-1/6320"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/573"],["dc.notes.intern","WoS Import 2017-03-10 / Funder: Deutsche Forschungsgemeinschaft"],["dc.notes.intern","Merged from goescholar"],["dc.notes.status","final"],["dc.notes.submitter","PUB_WoS_Import"],["dc.publisher","Elsevier Sci Ltd"],["dc.relation.issn","1471-4914"],["dc.rights","Goescholar"],["dc.rights.uri","https://goescholar.uni-goettingen.de/licenses"],["dc.title","Organelle interplay in peroxisomal disorders"],["dc.type","review"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dspace.entity.type","Publication"],["local.message.claim","2020-08-07T08:23:16.626+0000|||rp114519|||submit_approve|||dc_contributor_author|||None"]]

[["dc.bibliographiccitation.artnumber","109"],["dc.bibliographiccitation.journal","BMC Medical Genetics"],["dc.bibliographiccitation.volume","12"],["dc.contributor.author","Thoms, Sven"],["dc.contributor.author","Gronborg, Sabine"],["dc.contributor.author","Rabenau, Jana"],["dc.contributor.author","Ohlenbusch, Andreas"],["dc.contributor.author","Rosewich, Hendrik"],["dc.contributor.author","Gärtner, Jutta"],["dc.date.accessioned","2017-09-07T11:43:26Z"],["dc.date.available","2017-09-07T11:43:26Z"],["dc.date.issued","2011"],["dc.description.abstract","Background: Mutations in PEX1 are the most common primary cause of Zellweger syndrome. In addition to exonic mutations, deletions and splice site mutations two 5' polymorphisms at c.-137 and c.-53 with a potential influence on PEX1 protein levels have been described in the 5' untranslated region (UTR) of the PEX1 gene. Methods: We used RACE and in silico promoter prediction analysis to study the 5' UTR of PEX1. We determined the distribution of PEX1 5' polymorphisms in a cohort of 30 Zellweger syndrome patients by standard DNA sequencing. 5' polymorphisms were analysed in relation to the two most common mutations in PEX1 and were incorporated into a novel genotype-phenotype analysis by correlation of three classes of PEX1 mutations with patient survival. Results: We provide evidence that the polymorphism 137 bp upstream of the ATG codon is not part of the UTR, rendering it a promoter polymorphism. We show that the first, but not the second most common PEX1 mutation arose independently of a specific upstream polymorphic constellation. By genotype-phenotype analysis we identified patients with identical exonic mutation and identical 5' polymorphisms, but strongly differing survival. Conclusions: Our study suggests that two different types of PEX1 5' polymorphisms have to be distinguished: a 5' UTR polymorphism at position c.-53 and a promoter polymorphism 137 bp upstream of the PEX1 start codon. Our results indicate that the exonic PEX1 mutation correlates with patient survival, but the two 5' polymorphisms analysed in this study do not have to be considered for diagnostic and/or prognostic purposes."],["dc.identifier.doi","10.1186/1471-2350-12-109"],["dc.identifier.gro","3142685"],["dc.identifier.isi","000294566100001"],["dc.identifier.pmid","21846392"],["dc.identifier.purl","https://resolver.sub.uni-goettingen.de/purl?gs-1/6929"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/116"],["dc.notes.intern","WoS Import 2017-03-10 / Funder: BMBF (German LEUKONET); Deutsche Forschungsgemeinschaft [GA354/7-1]"],["dc.notes.intern","Merged from goescholar"],["dc.notes.status","final"],["dc.notes.submitter","PUB_WoS_Import"],["dc.publisher","Biomed Central Ltd"],["dc.relation.issn","1471-2350"],["dc.rights","CC BY 2.0"],["dc.rights.uri","https://creativecommons.org/licenses/by/2.0"],["dc.title","Characterization of two common 5 ' polymorphisms in PEX1 and correlation to survival in PEX1 peroxisome biogenesis disorder patients"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.subtype","original"],["dc.type.version","published_version"],["dspace.entity.type","Publication"],["local.message.claim","2020-08-07T08:23:16.626+0000|||rp114519|||submit_approve|||dc_contributor_author|||None"]]