Selected Publications

Deletion of IFT20 exclusively in the RPE ablates primary cilia and leads to retinal degeneration.

Kretschmer V, Schneider S, Matthiessen PA, Reichert D, Hotaling N, Glasßer G, Lieberwirth I, Bharti K, De Cegli R, Conte I, Nandrot EF, May-Simera HL
2023 PLoS Biol. DOI: 10.1371/journal.pbio.3002402.

Emerging principles of primary cilia dynamics in controlling tissue organization and function.

Gopalakrishnan J, Feistel K, Friedrich BM, Grapin-Botton A, Jurisch-Yaksi N, Mass E, Mick DU, Müller RU, May-Simera H, Schermer B, Schmidts M, Walentek P, Wachten D.
2023 EMBO J. DOI: 10.15252/embj.202311389

Neofunctionalization of ciliary BBS proteins to nuclear roles is likely a frequent innovation across eukaryotesEmerging principles of primary cilia dynamics in controlling tissue organization and function.

Ewerling A, Maissl V, Wickstead B, May-Simera HL.
2023 iScience.  DOI: 10.1016/j.isci.2023.106410.

The actin-bundling protein Fascin-1 modulates ciliary signalling. Early disruption of photoreceptor cell architecture and loss of vision in a humanized pig model of usher syndromes.

Brücker L, Becker SK, Maissl V, Harms G, Parsons M, May-Simera HL
2023 J Mol Cell Biol. DOI: 10.1093/jmcb/mjad022

Early disruption of photoreceptor cell architecture and loss of vision in a humanized pig model of usher syndromes.

Grotz S, Schäfer J, Wunderlich KA, Ellederova Z, Auch H, Bähr A, Runa-Vochozkova P, Fadl J, Arnold V, Ardan T, Veith M, Santamaria G, Dhom G, Hitzl W, Kessler B, Eckardt C, Klein J, Brymova A, Linnert J, Kurome M, Zakharchenko V, Fischer A, Blutke A, Döring A, Suchankova S, Popelar J, Rodríguez-Bocanegra E, Dlugaiczyk J, Straka H, May-Simera H, Wang W, Laugwitz KL, Vandenberghe LH, Wolf E, Nagel-Wolfrum K, Peters T, Motlik J, Fischer MD, Wolfrum U, Klymiuk N.
2022 EMBO Mol Med.  DOI: 10.15252/emmm.202114817.

Bardet-Biedl Syndrome Proteins Modulate the Release of Bioactive Extracellular Vesicles.

Volz A-K, Frei A, Kretschmer V, de Jesus Domingues A M, Ketting RF, Ueffing M, Boldt K, Krämer-Albers E-M, May-Simera HL
2021 Nat. Com. DOI: 10.1038/s41467-021-25929-1

Translational readthrough of ciliopathy genes BBS2 and ALMS1 restores protein, ciliogenesis and function in patient fibroblasts.

PEintracht J, Forsythe E, May-Simera H, Moosajee M
2021 EBioMedicine. 70:103515

The Interplay between Nutrition, Innate Immunity, and the Commensal Microbiota in Adaptive Intestinal Morphogenesis.

Bayer F, Dremova O, Khuu MP, Mammadova K, Pontarollo G, Kiouptsi K, Soshnikova N, May-Simera HL, Endres K, Reinhardt C
2021 Nutrients. 13(7):2198

Loss of Ciliary Gene Bbs8 Results in Physiological Defects in the Retinal Pigment Epithelium.

Schneider S, De Cegli R, Nagarajan J, Kretschmer V, Matthiessen PA, Intartaglia D, Hotaling N, Ueffing M, Boldt K, Conte I and May-Simera HL
2021 Front. Cell Dev. Biol. 9:607121

Reliability of genomic variants across different next-generation sequencing platforms and bioinformatic processing pipelines.

Weißbach S, Sys S, Hewel C, Todorov H, Schweiger S, Winter J, Pfenninger M, Torkamani A, Evans D, Burger J, Everschor-Sitte K, May-Simera HL, Gerber S
2021 BMC Genomics 22(1):62

The entangled relationship between cilia and actin.

Brücker L, Kretschmer V, May-Simera HL
2020 Int J Biochem Cell Biol. 129:105877

Tissue-dependent differences in Bardet-Biedl syndrome gene expression.

Patnaik SR, Farag A, Brücker L, Volz AK, Schneider S, Kretschmer V, May-Simera HL
2020 Biol Cell 112(2):39-52

The Role of WNT Signaling During Ciliary-Dependent RPE Development.

Kretschmer V, May-Simera HL
2020 Klin Monbl Augenheilkd 237(3):248-258

Progressive characterization of visual phenotype in Bardet-Biedl Syndrome mutant mice.

Kretschmer V, Kretschmer F, Patnaik SR, Chwada M, Hernandez-Hernandez V, May-Simera HL
2019 IOVS 1;60(4):1132-1143

Bardet-Biedl Syndrome proteins regulate cilia disassembly during tissue maturation.

Patnaik SR, Kretschmer V, Brücker L, Schneider S, Volz AK, Oancea-Castillo LDR, May-Simera HL
2018 Cell Mol Life Sci. 76(4):757-775

Generation of an inducible RPE-specific Cre transgenic-mouse line.

Schneider S, Hotaling N, Campos M, Patnaik SR, Bharti K, May-Simera HL
2018 PLoS One. 15;13(11):e0207222

Primary Cilium Mediated Retinal Pigment Epithelium Maturation is Retarded in Ciliopathy Patient Cells.

Volz A-K, Frei A, Kretschmer V, de Jesus Domingues A M, Ketting RF, Ueffing M, Boldt K, Krämer-Albers E-M, May-Simera HL
2021 Nat. Com. DOI: 10.1038/s41467-021-25929-1