Marius Ueffing
University of Tübingen
CiliumProteomePathologyMolecular biologyChemistryImmunologyRetinaCiliopathyRetinalRetinal degenerationRetinitis pigmentosaCiliopathiesProteomicsGeneticsBiochemistryBioinformaticsComputational biologyMedicineBiologyCell biology
390Publications
72H-index
11.8kCitations
Publications 391
Newest
#1Angela Armento (University of Tübingen)H-Index: 5
#2T. L. Schmidt (University of Tübingen)H-Index: 1
Last. Marius UeffingH-Index: 72
view all 8 authors...
Age-related macular degeneration (AMD), the leading cause of vision loss in the elderly, is a degenerative disease of the macula, where retinal pigment epithelium (RPE) cells are damaged in the early stages of the disease and chronic inflammatory processes may be involved. Besides ageing and lifestyle factors as drivers of AMD, a strong genetic association to AMD is found in genes of the complement system, with a single polymorphism in the complement factor H gene (CFH), accounting for the major...
1 CitationsSource
#1Angela ArmentoH-Index: 5
#2Aparna Murali (UQ: University of Queensland)H-Index: 2
Last. Marius UeffingH-Index: 72
view all 10 authors...
Age-related Macular degeneration (AMD) is a degenerative disease of the macula affecting the elderly population. Treatment op-tions are limited, partly due to the lack of understanding of AMD pathology and the sparse availability of research models, that replicate the complexity of the human macula and the intricate interplay of the genetic, aging and life-style risk factors contrib-uting to AMD. One of the main genetic risks associated with AMD is located on Complement Factor H (CFH) gene, lead...
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#1Julia Busch (University of Giessen)H-Index: 3
#2Rita Moreno (Dund.: University of Dundee)H-Index: 7
Last. Uwe LinneH-Index: 46
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The ubiquitin E3 ligase TNF Receptor Associated Factor 6 (TRAF6) participates in a large number of different biological processes including innate immunity, differentiation and cell survival, raising the need to specify and shape the signaling output. Here, we identify a lipopolysaccharide (LPS)-dependent increase in TRAF6 association with the kinase IKKe (inhibitor of NF-κB kinase subunit e) and IKKe-mediated TRAF6 phosphorylation at five residues. The reconstitution of TRAF6-deficient cells, w...
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#1Johanna M. Colijn (Erasmus University Medical Center)H-Index: 13
#1Johanna Colijn (Erasmus University Medical Center)H-Index: 2
Last. C.C.W. Klaver (Erasmus University Medical Center)H-Index: 4
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Purpose Age-related macular degeneration (AMD) is a common multifactorial disease in the elderly with a prominent genetic basis. Many risk variants have been identified, but the interpretation remains challenging. We investigated the genetic distribution of AMD-associated risk variants in a large European consortium, calculated attributable and pathway-specific genetic risks, and assessed the influence of lifestyle on genetic outcomes. Design Pooled analysis of cross-sectional data from the Euro...
1 CitationsSource
#1Anja Beckers (MHH: Hannover Medical School)H-Index: 3
#2Franziska Fuhl (University of Hohenheim)H-Index: 4
Last. Elisabeth KremmerH-Index: 104
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Cilia are protrusions of the cell surface and composed of hundreds of proteins many of which are evolutionary and functionally well conserved. In cells assembling motile cilia the expression of numerous ciliary components is under the control of the transcription factor FOXJ1. Here, we analyse the evolutionary conserved FOXJ1 target CFAP161 in Xenopus and mouse. In both species Cfap161 expression correlates with the presence of motile cilia and depends on FOXJ1. Tagged CFAP161 localises to the b...
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Last. Gossler A
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#1Merve Sen (University of Tübingen)H-Index: 2
#2Oksana Kutsyr (University of Alicante)H-Index: 4
Last. Marius Ueffing (University of Tübingen)H-Index: 72
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1.Rhodopsin (RHO) misfolding mutations are a common cause of the blinding disease autosomal dominant retinitis pigmentosa (adRP). The most prevalent mutation, RHOP23H, results in its misfolding and retention in the Endoplasmic Reticulum (ER). Under homeostatic conditions, misfolded proteins are selectively identified, retained at the ER, and cleared via ER-associated degradation (ERAD) and/or autophagy. Overload of these degradation processes for a prolonged period leads to imbalanced proteostas...
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#1Sebiha Cevik (Abdullah Gül University)H-Index: 1
#1Sebiha Cevik (Abdullah Gül University)H-Index: 8
Last. Felix Hoffmann (University of Tübingen)H-Index: 1
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The term "ciliopathy" refers to a group of over 35 rare disorders characterized by defective cilia and many overlapping clinical features, such as hydrocephalus, cerebellar vermis hypoplasia, polydactyly, and retinopathy. Even though many genes have been implicated in ciliopathies, the genetic pathogenesis in certain cases remains still undisclosed. Here, we identified a homozygous truncating variant in WDR31 in a patient with a typical ciliopathy phenotype encompassing congenital hydrocephalus,...
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#1Merve Sen (University of Tübingen)H-Index: 2
#2Al-Amin M (UNIPD: University of Padua)
Last. Marius Ueffing (University of Tübingen)H-Index: 72
view all 10 authors...
1.Mutations in rhodopsin lead to its misfolding resulting in autosomal dominant retinitis pigmentosa (adRP). Pharmacological inhibition of the ATP-driven chaperone valosin- containing protein (VCP), a molecular checkpoint for protein quality control, slows down retinal degeneration in animal models. However, poor water-solubility of VCP inhibitors poses a challenge to their clinical translation as intravitreal injections for retinal treatment. In order to enable the delivery of VCP inhibitors, w...
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