Pasutto Francesca

Pulasani Sai, Zenkel Matthias, Lämmer Robert, Jünemann Anselm, Gießl Andreas, Korn Klaus et al.

Researchers developed an in vitro model using PEX patient fibroblasts that successfully replicated key PEX fibrillar aggregates. This model offers a valuable tool for studying disease mechanisms and testing new therapies for PEX glaucoma.

Siggs Owen M, Souzeau Emmanuelle, Pasutto Francesca, Dubowsky Andrew, Smith James E H, Taranath Deepa et al.

This study found FOXC1 variants in 6.1% of suspected PCG cases, revealing subtle Axenfeld-Rieger syndrome features. This supports genetic testing for accurate diagnosis and management of childhood glaucoma.

Berner Daniel, Zenkel Matthias, Pasutto Francesca, Hoja Ursula, Liravi Panah, Gusek-Schneider Gabriele C et al.

This study found that alternative splicing and NMD regulate LOXL1 expression, adapting it to PEX-associated stresses, which may explain LOXL1's role in pseudoexfoliation glaucoma.

Schlötzer-Schrehardt Ursula, Hammer Christian M, Krysta Anita W, Hofmann-Rummelt Carmen, Pasutto Francesca, Sasaki Takako et al.

LOXL1 deficiency and elastic fiber disruption in the lamina cribrosa of pseudoexfoliation eyes create an elastinopathy, increasing glaucoma risk by making the optic nerve vulnerable to damage.

Krumbiegel Mandy, Pasutto Francesca, Mardin Christian Y, Weisschuh Nicole, Paoli Daniela, Gramer Eugen et al.

This study found no association between APOE genotypes and pseudoexfoliation syndrome or glaucoma in German and Italian populations, suggesting APOE is not a genetic risk factor for these conditions.

Wolf Christiane, Gramer Eugen, Müller-Myhsok Bertram, Pasutto Francesca, Gramer Gwendolyn, Wissinger Bernd et al.

LOXL1 gene polymorphisms were studied in German glaucoma patients. They were strongly linked to exfoliation glaucoma, but not significantly to normal tension or pigmentary glaucoma, except for one variant affecting pigmentary glaucoma onset age.

Pasutto Francesca, Chavarria-Soley Gabriela, Mardin Christian Y, Michels-Rautenstrauss Karin, Ingelman-Sundberg Magnus, Fernández-Martínez Lorena et al.

This study found heterozygous loss-of-function CYP1B1 variants significantly increase primary open-angle glaucoma risk (OR=5.4), highlighting their role in disease susceptibility.

Krumbiegel Mandy, Pasutto Francesca, Mardin Christian Y, Weisschuh Nicole, Paoli Daniela, Gramer Eugen et al.

This study found a CLU gene variant (rs2279590) associated with PEX syndrome in Germans, but not Italians, suggesting population-specific genetic risk for this glaucoma-related condition.

Pasutto Francesca, Krumbiegel Mandy, Mardin Christian Y, Paoli Daniela, Lämmer Robert, Weber Bernhard H F et al.

This study confirmed LOXL1 gene variants are strongly associated with pseudoexfoliation and glaucoma in German/Italian patients, reinforcing its global role in disease risk.

Pasutto Francesca, Mardin Christian Y, Michels-Rautenstrauss Karin, Weber Bernhard H F, Sticht Heinrich, Chavarria-Soley Gabriela et al.

This study found eight WDR36 gene variants were significantly more prevalent in German glaucoma patients, suggesting WDR36 is a minor glaucoma-causing gene, warranting further functional study.