Tuesday, November 5, 2024

Differential Gene Expression in Late-Onset Friedreich Ataxia: A Comparative Transcriptomic Analysis Between Symptomatic and Asymptomatic Sisters

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Petrillo, S.; Perna, A.; Quatrana, A.; Silvestri, G.; Bertini, E.; Piemonte, F.; Santoro, M. Differential Gene Expression in Late-Onset Frie...

Navigating the Orphan Medicinal Product Designation: Evidence Requirements for Gene Therapies in Europe

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Palomo, G.M. et al., Navigating the Orphan Medicinal Product Designation: Evidence Requirements for Gene Therapies in Europe. Molecular Th...

At-home wearable-based monitoring predicts clinical measures and biological biomarkers of disease severity in Friedreich’s Ataxia

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Mishra, R.K., Nunes, A.S., Enriquez, A. et al. At-home wearable-based monitoring predicts clinical measures and biological biomarkers of dis...

Uniparental IsoDisomy: a case study on a new mechanism of Friedreich ataxia

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Sperelakis-Beedham, B., Gitiaux, C., Rajaoba, M. et al. Uniparental IsoDisomy: a case study on a new mechanism of Friedreich ataxia. Eur J H...
Monday, October 28, 2024

Utility of Optical Genome Mapping in Repeat Disorders

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Mutlu MB, Karakaya T, Çelebi HBG, Duymuş F, Seyhan S, Yılmaz S, Yiş U, Atik T, Yetkin MF, Gümüş H. Utility of Optical Genome Mapping in Repe...
Sunday, October 27, 2024

Design and validation of cell-based potency assays for frataxin supplementation treatments

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Design and validation of cell-based potency assays for frataxin supplementation treatments; Shibani Mukherjee, Larisa Pereboeva, Daniel Fil,...
Tuesday, October 15, 2024

Papillon Therapeutics Receives Rare Pediatric Disease Designation from the U.S. Food and Drug Administration for PPL-001 for the Treatment of Friedreich's Ataxia

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October 15, 2024. SAN DIEGO--Papillon Therapeutics Inc., today announced that the U.S. Food and Drug Administration (FDA) has granted Rare P...
Wednesday, October 9, 2024

PTC Therapeutics Announces Positive Results from Long-Term Treatment Studies and Updates on Regulatory Progress for Vatiquinone Friedreich Ataxia Program

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WARREN, N.J. ,  Oct. 8, 2024  /PRNewswire/ -- PTC Therapeutics, Inc. provided today several positive updates on the vatiquinone Friedreich a...
Monday, October 7, 2024

The SIRT-1/Nrf2/HO-1 Axis: Guardians of Neuronal Health in Neurological Disorders

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Pranshul Sethi, Sidharth Mehan, Zuber Khan, Pankaj Kumar Maurya, Nitish Kumar, Aakash Kumar, Aarti Tiwari, Tarun Sharma, Ghanshyam Das Gupta...
Saturday, September 28, 2024

Understanding the mechanisms of food effect on omaveloxolone pharmacokinetics through physiologically based biopharmaceutics modeling

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Pepin XJH, Hynes SM, Zahir H, Walker D, Semmens LQ, Suarez-Sharp S. Understanding the mechanisms of food effect on omaveloxolone pharmacokin...