Results 61 to 70 of about 4,355 (175)

The Nrf2 induction prevents ferroptosis in Friedreich’s ataxia [PDF]

, 2021
Ferroptosis is an iron-dependent cell death caused by impaired glutathione metabolism, lipid peroxidation and mitochondrial failure. Emerging evidences report a role for ferroptosis in Friedreich’s Ataxia (FRDA), a neurodegenerative disease caused by the
Berardinelli, Francesco, Bertini, Enrico S., Lettieri-Barbato, Daniele, Turchi, Riccardo, Vasco, Gessica, Bertini, Enrico S, La Rosa, Piergiorgio, Aquilano, Katia, Fiorenza, Maria Teresa, Schirinzi, Tommaso, Petrillo, Sara, Piemonte, Fiorella   +11 more
core   +1 more source

IGF-1 in Friedreich’s Ataxia – proof-of-concept trial [PDF]

, 2014
[Background] Friedreich’s ataxia is an autosomal recessive, severely incapacitating disorder. There is little objective evidence regarding FRDA management.
Irene Sanz-Gallego, Sanz-Gallego, Irene, Ignacio Torres-Aleman, Torres Alemán, Ignacio, Javier Arpa, Arpa, Javier   +5 more
core   +1 more source

Technologies for engineering repetitive DNA

Quantitative Biology, Volume 14, Issue 3, September 2026.
Abstract Repetitive DNA, a fundamental architectural element of genomes, is widespread across organisms and comprises about 54% of the human genome. With advances in long‐read sequencing and bioinformatics approaches, highly repetitive sequences can now be characterized in depth.
Shuting Ma, Yali Cui, Yi Wu
wiley   +1 more source

Safety and Efficacy of The Stem Cell Transplantation in Friedreich’s Ataxia: A Report of Three Cases

International Journal of Physiotherapy, 2021
Background: Friedreich’s ataxia is a progressive degenerative disorder caused by deficiency of the frataxin protein. Expanded GAA repeats in intron 1 of the FXN gene lead to its heterochromatinization and transcriptional silencing.
Riza Azeri, Duygu Koyuncu Irmak, Eda Sun, Erdal Karaöz   +3 more
doaj   +1 more source

Pharmacological Activation of NRF2 by Omaveloxolone Upregulates NRF2‐Target Proteins in SMA Type I Human Fibroblasts

The FASEB Journal, Volume 40, Issue 12, 30 June 2026.
SMA type I patient‐derived fibroblasts exhibit reduced basal NRF2 pathway output, reflected by decreased NQO1, xCT, and PGC1α. Pharmacological NRF2 activation with omaveloxolone (OMAV) increases cell viability and induces NRF2 target proteins in both control and SMA fibroblasts.
Sofia Vrettou, Sebastian Zetzsche, Brunhilde Wirth   +2 more
wiley   +1 more source

Somatic instability of the expanded GAA triplet-repeat sequence in Friedreich ataxia progresses throughout life

, 2007
Friedreich ataxia (FRDA) patients are homozygous for expanded GAA triplet-repeat alleles in the FXN gene. Primary neurodegeneration involving the dorsal root ganglia (DRG) results in progressive ataxia.
Ramussen, A, De Biase, Irene, Monticelli, A, Bidichandani, Sanjay I., De Biase, I, Al-Mahdawi, S, Pook, Mark, Cocozza, S, Al-Mahdawi, Sahar, Pook, M A, Bidichandani, S, Monticelli, Antonella, Cocozza, Sergio, Rasmussen, Astrid   +13 more
core   +1 more source

Remote Monitoring in Myasthenia Gravis: Exploring Symptom Variability

Annals of Clinical and Translational Neurology, Volume 13, Issue 6, Page 1106-1117, June 2026.
ABSTRACT Background Myasthenia gravis (MG) is a rare, autoimmune disorder characterized by fluctuating muscle weakness and potential life‐threatening crises. While continuous specialized care is essential, access barriers often delay timely interventions. To address this, we developed MyaLink, a telemedical platform for MG patients.
Maike Stein, Maximilian Mönch, Meret Herdick, Frauke Stascheit, Sarah Hoffmann, Hannah Preßler, Philipp Mergenthaler, Carla Dusemund, Paolo Doksani, Haoqi Sun, Pushpa Narayanaswami, Andreas Meisel, Lea Gerischer, Sophie Lehnerer   +13 more
wiley   +1 more source

Pms2 suppresses large expansions of the (GAA·TTC)n sequence in neuronal tissues

, 2012
Copyright @ 2012 Bourn et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source ...
De Biase, I, Al-Mahdawi, S, De Biase Irene, Al-Mahdawi Sahar, Pinto Ricardo Mouro, Sandi, C, Pook, MA, Pinto, RM, Sahar Al-Mahdawi, Chiranjeevi Sandi, Sandi Chiranjeevi, Sanjay I Bidichandani, Bourn Rebecka L., Bidichandani, S, Irene De Biase, Bourn, RL, Ricardo Mouro Pinto, Pook Mark A., Rebecka L Bourn, Bidichandani Sanjay I., Mark A Pook   +20 more
core   +1 more source

Scoliosis Surgery in a Patient With Advanced Friedreich's Ataxia—It Is Not Too Late

Annals of Clinical and Translational Neurology
Friedreich's ataxia is a multisystem disorder with scoliosis being the most common non‐neurological manifestation. While scoliosis surgery is typically performed in adolescent, ambulatory patients, few data exist on surgical outcomes in patients with ...
Kathrin Reetz, Stella A. Lischewski, Jörg B. Schulz, Maximilian Praster, Miguel Pishnamaz, the FACROSS study group, Imis Dogan, Sandro Romanzetti, Ravi Dadsena, Kerstin Konrad, Thomas Clavel, Vera Jankowski, Joachim Jankowski, Oliver Pabst, Nikolaus Marx, Julia Moellmann, Malte Jacobsen, Katharina Marx‐Schütt, Juergen Dukart, Simon Eickhoff, Ralf‐Dieter Hilgers   +20 more
doaj   +1 more source

Predicting Loss of Ambulation in Limb Girdle Muscular Dystrophy R9

Annals of Clinical and Translational Neurology, Volume 13, Issue 6, Page 1154-1159, June 2026.
ABSTRACT Background Limb girdle muscular dystrophy type R9 (LGMDR9) results from biallelic variants in FKRP. There is limited data to predict loss of ambulation (LOA) among those with LGMDR9. Methods Participants in an ongoing dystroglycanopathy natural history study (NCT00313677) with FKRP variants who had achieved ambulation and were more than 3 ...
Chandra L. Miller, Lauren N. Coffey, Shelley R. H. Mockler, Katie M. Laubscher, Carrie M. Stephan, M. Bridget Zimmerman, Katherine D. Mathews   +6 more
wiley   +1 more source