Sylvia Bolz
University of Tübingen
AnatomyOphthalmologyPathologyEndoplasmic-reticulum-associated protein degradationOrgan-on-a-chipNeuroscienceChemistryRhodopsinProteasomeRetinaRetinal ganglion cellElectroretinographyRetinalRetinal degenerationRetinitis pigmentosaRetinal ganglionProgrammed cell deathOrganoidBiochemistryNMDA receptorMedicineBiologyCell biology
46Publications
13H-index
743Citations
Publications 45
Newest
#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
view all 6 authors...
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...
1 CitationsSource
#1Blanca Arango-Gonzalez (University of Tübingen)H-Index: 18
#2Merve Sen (University of Tübingen)H-Index: 2
Last. Marius Ueffing (University of Tübingen)H-Index: 72
view all 15 authors...
Due to continuously high production rates of rhodopsin (RHO) and high metabolic activity, photoreceptor neurons are especially vulnerable to defects in proteostasis. A proline to histidine substitution at position 23 (P23H) leads to production of structurally misfolded RHO, causing the most common form of autosomal dominant Retinitis Pigmentosa (adRP) in North America. The AAA-ATPase valosin-containing protein (VCP) extracts misfolded proteins from the ER membrane for cytosolic degradation. Here...
4 CitationsSource
#1Angela ArmentoH-Index: 5
#2Sabina HonischH-Index: 16
Last. Marius UeffingH-Index: 72
view all 10 authors...
Polymorphisms in the Complement Factor H (CFH) gene, coding for the Factor H protein (FH), can increase the risk for age-related macular degeneration (AMD). AMD-associated CFH risk variants, Y402H in particular, impair FH function leading to complement overactivation. Whether this alone suffices to trigger AMD pathogenesis remains unclear. In AMD, retinal homeostasis is compromised due to the dysfunction of retinal pigment epithelium (RPE) cells. To investigate the impact of endogenous FH loss o...
14 CitationsSource
#1Merve Sen (University of Tübingen)H-Index: 2
#2Oksana KutsyrH-Index: 4
Last. Marius Ueffing (University of Tübingen)H-Index: 72
view all 7 authors...
Source
#1Kevin AchbergerH-Index: 6
#2Christopher Probst (Fraunhofer Society)H-Index: 16
Last. Peter Loskill (Fraunhofer Society)H-Index: 24
view all 15 authors...
The devastating effects and incurable nature of hereditary and sporadic retinal diseases such as Stargardt disease, age-related macular degeneration or retinitis pigmentosa urgently require the development of new therapeutic strategies. Additionally, a high prevalence of retinal toxicities is becoming more and more an issue of novel targeted therapeutic agents. Ophthalmologic drug development, to date, largely relies on animal models, which often do not provide results that are translatable to h...
105 CitationsSource
#2Merve Sen (University of Tübingen)H-Index: 2
Last. Marius UeffingH-Index: 72
view all 7 authors...
#1Kevin AchbergerH-Index: 6
#2Christopher Probst (Fraunhofer Society)H-Index: 16
Last. Stefan LiebauH-Index: 21
view all 11 authors...
#1Merve Sen (University of Tübingen)H-Index: 2
#2Oksana Kutsyr (University of Alicante)H-Index: 4
Last. Marius UeffingH-Index: 72
view all 7 authors...
#1Kevin AchbergerH-Index: 6
#2Christopher Probst (Fraunhofer Society)H-Index: 16
Last. Peter Loskill (Fraunhofer Society)H-Index: 24
view all 15 authors...
2 CitationsSource
#1Virginia CoraH-Index: 3
#2Jasmin HaderspeckH-Index: 4
Last. Stefan LiebauH-Index: 21
view all 11 authors...
Human induced pluripotent stem cell (hiPSC)-derived organoids mimicking tissues and organs in vitro have advanced medical research, as they opened up new possibilities for in-depth basic research on human organ development as well as providing a human in vitro model for personalized therapeutic approaches. hiPSC-derived retinal organoids have proven to be of great value for modeling the human retina featuring a very similar cellular composition, layering, and functionality. The technically chall...
19 CitationsSource