frataxin is essential for zebrafish embryogenesis and pronephros formation

frataxin is essential for zebrafish embryogenesis and pronephros formation. Wesley S. Ercanbrack, Austin Dungan, Ella Gaul, Mateo Ramirez, Rebecca A. Wingert; Front. Cell Dev. Biol. Sec. Embryonic Development Volume 12 - 2024 | doi: 10.3389/fcell.2024.1496244

Here, we developed a zebrafish loss of function model to study the role of Fxn during early embryogenesis. fxn-deficient zebrafish exhibited failure to thrive, edema, elevated cell death in the central nervous system, craniofacial defects, as well as stunted renal development and reduced kidney function that was associated with alterations in nephron lineage formation. Our findings reveal that Fxn is crucial for the normal development of multiple embryonic tissues, and disclose for the first time that Fxn plays important roles in supporting the pattern formation of the embryonic kidney.

PTC Therapeutics Provides Corporate Update and Reports Third Quarter 2024 Financial Results

WARREN, N.J., Nov. 7, 2024 /PRNewswire/ -- PTC Therapeutics, Inc. "We continue to achieve excellent revenue performance allowing us to raise full-year revenue guidance. In addition, we have submitted three approval applications to FDA so far this year, all of which have been accepted for review, and plan a fourth submission for vatiquinone for Friedreich ataxia in December. 

PTC plans to submit an NDA for vatiquinone for the treatment of Friedreich ataxia in December 2024.

Design Therapeutics Announces Third Quarter 2024 Financial Results and Reviews Near-term Milestones for GeneTACTM Portfolio

CARLSBAD, Calif., Nov. 07, 2024 (GLOBE NEWSWIRE) Friedreich Ataxia (FA) Design is on track to initiate the Phase 1 single ascending dose, normal healthy volunteer trial for DT-216P2 in the first half of 2025. The company anticipates beginning FA patient dosing later in 2025.

Abnormal visual cortex activity using functional magnetic resonance imaging in treatment resistant photophobia in Friedreich Ataxia

Araliya N. Gunawardene, Nicholas Reyes, David Valdes-Arias, Alpen Ortug, Jaime Martinez, Anat Galor, Eric A. Moulton, Abnormal visual cortex activity using functional magnetic resonance imaging in treatment resistant photophobia in Friedreich Ataxia, American Journal of Ophthalmology Case Reports, 2024, 102213,ISSN 2451-9936, doi:10.1016/j.ajoc.2024.102213. 

Our study highlights photophobia as one potential ocular manifestation of FDRA and suggests that one underlying contributor may be a decoupled cortical neurovascular response to light. Our study provides novel information that may guide physiologic understanding and future treatments in this disease.