Friedreich Ataxia Scientific News

Friedreich Ataxia and close related scientific news. Topics related to rare diseases.

Sunday, January 22, 2023

Protoporphyrin IX Binds to Iron(II)-Loaded and to Zinc-Loaded Human Frataxin

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Bernardo-Seisdedos G, Schedlbauer A, Pereira-Ortuzar T, Mato JM, Millet O.; Life (Basel). 2023 Jan 12;13(1):222. doi: 10.3390/life13010222. ...
Friday, January 20, 2023

Small-molecule inhibitors of proteasome increase CjCas9 protein stability

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Yaméogo P, Majeau N, Mbakam CH, Tremblay JP (2023) . PLoS ONE 18(1): e0280353. doi:10.1371/journal.pone.0280353  We observed that the CjCas9...
Thursday, January 19, 2023

A wearable motion capture suit and machine learning predict disease progression in Friedreich’s ataxia

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Balasundaram Kadirvelu, Constantinos Gavriel, Sathiji Nageshwaran, Jackson Ping Kei Chan, Suran Nethisinghe, Stavros Athanasopoulos, Valeria...

Proprioceptors-enriched neuronal cultures from induced pluripotent stem cells from Friedreich ataxia patients show altered transcriptomic and proteomic profiles, abnormal neurite extension, and impaired electrophysiological properties

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Chiara Dionisi, Marine Chazalon, Myriam Rai, Céline Keime, Virginie Imbault, David Communi, Hélène Puccio, Serge N Schiffmann, Massimo Pando...
Wednesday, January 18, 2023

Form S-1/A JUPITER NEUROSCIENCES

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As filed with the U.S. Securities and Exchange Commission on January 17, 2023.  JOTROL™ is a micellar non-aqueous solution of resveratrol de...
Monday, January 16, 2023

Neurobehavioral deficits of mice expressing a low level of G127V mutant frataxin

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Daniel Fil, Robbie L. Conley, Aamir R. Zuberi, Cathleen M. Lutz, Terry Gemelli, Marek Napierala, Jill S. Napierala; Neurobiology of Disease,...

Quantitative Oculomotor Assessment in Hereditary Ataxia: Discriminatory Power, Correlation with Severity Measures, and Recommended Parameters for Specific Genotypes

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Pilar Garces, Chrystalina A. Antoniades, Anna Sobanska, Norbert Kovacs, Sarah H. Ying, Anoopum S. Gupta, Susan Perlman, David J. Szmulewicz,...
Sunday, January 15, 2023

Ketolysis is Required for the Proper Development and Function of the Somatosensory Nervous System

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Jonathan Enders, Jarrid Jack, Sarah Thomas, Paige Lynch, Sarah Lasnier, Xin Cao, M Taylor Swanson, Janelle M Ryals, John P Thyfault, Patrycj...
Saturday, January 14, 2023

FXN gene methylation determines carrier status in Friedreich ataxia

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Lam C, Gilliam KM, Rodden LN, Schadt KA, Lynch DR, Bidichandani S.; J Med Genet. 2023 Jan 12:jmedgenet-2022-108742. doi: 10.1136/jmg-2022-10...
Tuesday, January 10, 2023

Prime Medicine (PRME) Announces Recent Progress and Highlights 2023 Strategic Priorities

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January 9, 2023; “Today, we are pleased to announce accomplishments across our portfolio and platform, including new preclinical proof-of-co...
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