Achromatopsia: Genetics and Gene Therapy

por Michalakis, Stylianos, Gerhardt, Maximilian, Rudolph, Günther, Priglinger, Siegfried, Priglinger, Claudia
Publicado 2021

Spectral domain optical coherence tomography-based retinochoroidal cystine crystal score: a window into infantile nephropathic cystinosis

por Keidel, Leonie, Hohenfellner, Katharina, Schworm, Benedikt, Priglinger, Siegfried, Luft, Nikolaus, Priglinger, Claudia
Publicado 2023

Nanoscopic Approach to Study the Early Stages of Epithelial to Mesenchymal Transition (EMT) of Human Retinal Pigment Epithelial (RPE) Cells In Vitro

por Chtcheglova, Lilia A., Ohlmann, Andreas, Boytsov, Danila, Hinterdorfer, Peter, Priglinger, Siegfried G., Priglinger, Claudia S.
Publicado 2020

Endogenous Galectin-1 Modulates Cell Biological Properties of Immortalized Retinal Pigment Epithelial Cells In Vitro

por Liesenhoff, Caspar, Paulus, Simon Martin, Havertz, Caroline, Geerlof, Arie, Priglinger, Siegfried, Priglinger, Claudia Sybille, Ohlmann, Andreas
Publicado 2023

Intraocular DHODH-inhibitor PP-001 suppresses relapsing experimental uveitis and cytokine production of human lymphocytes, but not of RPE cells

por Diedrichs-Möhring, Maria, Niesik, Sandy, Priglinger, Claudia S., Thurau, Stephan R., Obermayr, Franz, Sperl, Stefan, Wildner, Gerhild
Publicado 2018

Galectin-1 and -3 in high amounts inhibit angiogenic properties of human retinal microvascular endothelial cells in vitro

por Hillenmayer, Anna, Wertheimer, Christian M., Geerlof, Arie, Eibl, Kirsten H., Priglinger, Siegfried, Priglinger, Claudia, Ohlmann, Andreas
Publicado 2022

Anti-angiogenic properties of rapamycin on human retinal pericytes in an in vitro model of neovascular AMD via inhibition of the mTOR pathway

por Asani, Ben, Siedlecki, Jakob, Wertheimer, Christian, Liegl, Raffael, Wolf, Armin, Ohlmann, Andreas, Priglinger, Siegfried, Priglinger, Claudia
Publicado 2022

Vitamin B12 in Leber hereditary optic neuropathy mutation carriers: a prospective cohort study

por Zibold, Julia, von Livonius, Bettina, Kolarova, Hana, Rudolph, Günter, Priglinger, Claudia S., Klopstock, Thomas, Catarino, Claudia B.
Publicado 2022

Characterization of a novel non‐canonical splice site variant (c.886‐5T>A) in NBAS and description of the associated phenotype

por Priglinger, Claudia S., Rudolph, Günter, Schmid, Irene, Mazzola, Pascale, Haack, Tobias B., Reith, Milda, Stingl, Katarina, Weisschuh, Nicole
Publicado 2022

Smoking and alcohol, health-related quality of life and psychiatric comorbidities in Leber’s Hereditary Optic Neuropathy mutation carriers: a prospective cohort study

por Rabenstein, Andrea, Catarino, Claudia B., Rampeltshammer, Verena, Schindler, David, Gallenmüller, Constanze, Priglinger, Claudia, Pogarell, Oliver, Rüther, Tobias, Klopstock, Thomas
Publicado 2021

Profound Re-Organization of Cell Surface Proteome in Equine Retinal Pigment Epithelial Cells in Response to In Vitro Culturing

por Szober, Christoph M., Hauck, Stefanie M., Euler, Kerstin N., Fröhlich, Kristina J. H., Alge-Priglinger, Claudia, Ueffing, Marius, Deeg, Cornelia A.
Publicado 2012

Inhibition of human retinal pigment epithelial cell attachment, spreading, and migration by the human lectin galectin-1

por Alge-Priglinger, Claudia S., André, Sabine, Kreutzer, Thomas C., Deeg, Cornelia A., Kampik, Anselm, Kernt, Marcus, Schöffl, Harald, Priglinger, Siegfried G., Gabius, Hans-Joachim
Publicado 2009

Gene Therapy with Voretigene Neparvovec Improves Vision and Partially Restores Electrophysiological Function in Pre-School Children with Leber Congenital Amaurosis

por Gerhardt, Maximilian J., Priglinger, Claudia S., Rudolph, Günther, Hufendiek, Karsten, Framme, Carsten, Jägle, Herbert, Salchow, Daniel J., Anschütz, Andreas, Michalakis, Stylianos, Priglinger, Siegfried G.
Publicado 2022

Galectin-3 Induces Clustering of CD147 and Integrin-β1 Transmembrane Glycoprotein Receptors on the RPE Cell Surface

por Priglinger, Claudia S., Szober, Christoph M., Priglinger, Siegfried G., Merl, Juliane, Euler, Kerstin N., Kernt, Marcus, Gondi, Gabor, Behler, Jennifer, Geerlof, Arie, Kampik, Anselm, Ueffing, Marius, Hauck, Stefanie M.
Publicado 2013

Epithelial-to-Mesenchymal Transition of RPE Cells In Vitro Confers Increased β1,6-N-Glycosylation and Increased Susceptibility to Galectin-3 Binding

por Priglinger, Claudia S., Obermann, Jara, Szober, Christoph M., Merl-Pham, Juliane, Ohmayer, Uli, Behler, Jennifer, Gruhn, Fabian, Kreutzer, Thomas C., Wertheimer, Christian, Geerlof, Arie, Priglinger, Siegfried G., Hauck, Stefanie M.
Publicado 2016

Long-Term Follow-Up After Unilateral Intravitreal Gene Therapy for Leber Hereditary Optic Neuropathy: The RESTORE Study

por Biousse, Valérie, Newman, Nancy J., Yu-Wai-Man, Patrick, Carelli, Valerio, Moster, Mark L., Vignal-Clermont, Catherine, Klopstock, Thomas, Sadun, Alfredo A., Sergott, Robert C., Hage, Rabih, Esposti, Simona, La Morgia, Chiara, Priglinger, Claudia, Karanja, Rustum, Blouin, Laure, Taiel, Magali, Sahel, José-Alain
Publicado 2021

Intravitreal Gene Therapy vs. Natural History in Patients With Leber Hereditary Optic Neuropathy Carrying the m.11778G>A ND4 Mutation: Systematic Review and Indirect Comparison

por Newman, Nancy J., Yu-Wai-Man, Patrick, Carelli, Valerio, Biousse, Valerie, Moster, Mark L., Vignal-Clermont, Catherine, Sergott, Robert C., Klopstock, Thomas, Sadun, Alfredo A., Girmens, Jean-François, La Morgia, Chiara, DeBusk, Adam A., Jurkute, Neringa, Priglinger, Claudia, Karanjia, Rustum, Josse, Constant, Salzmann, Julie, Montestruc, François, Roux, Michel, Taiel, Magali, Sahel, José-Alain
Publicado 2021

Indirect Comparison of Lenadogene Nolparvovec Gene Therapy Versus Natural History in Patients with Leber Hereditary Optic Neuropathy Carrying the m.11778G>A MT-ND4 Mutation

por Carelli, Valerio, Newman, Nancy J., Yu-Wai-Man, Patrick, Biousse, Valerie, Moster, Mark L., Subramanian, Prem S., Vignal-Clermont, Catherine, Wang, An-Guor, Donahue, Sean P., Leroy, Bart P., Sergott, Robert C., Klopstock, Thomas, Sadun, Alfredo A., Rebolleda Fernández, Gema, Chwalisz, Bart K., Banik, Rudrani, Girmens, Jean François, La Morgia, Chiara, DeBusk, Adam A., Jurkute, Neringa, Priglinger, Claudia, Karanjia, Rustum, Josse, Constant, Salzmann, Julie, Montestruc, François, Roux, Michel, Taiel, Magali, Sahel, José-Alain
Publicado 2022

Real-World Clinical Experience With Idebenone in the Treatment of Leber Hereditary Optic Neuropathy

por Catarino, Claudia B., von Livonius, Bettina, Priglinger, Claudia, Banik, Rudrani, Matloob, Selma, Tamhankar, Madhura A., Castillo, Lorena, Friedburg, Christoph, Halfpenny, Christopher A., Lincoln, John A., Traber, Ghislaine L., Acaroglu, Gölge, Black, Graeme C. M., Doncel, Carlos, Fraser, Clare L., Jakubaszko, Joanna, Landau, Klara, Langenegger, Stefan J., Muñoz-Negrete, Francisco J., Newman, Nancy J., Poulton, Joanna, Scoppettuolo, Elisabetta, Subramanian, Prem, Toosy, Ahmed T., Vidal, Mariona, Vincent, Andrea L., Votruba, Marcela, Zarowski, Marcin, Zermansky, Adam, Lob, Felice, Rudolph, Günther, Mikazans, Oskars, Silva, Magda, Llòria, Xavier, Metz, Günther, Klopstock, Thomas
Publicado 2020