Results 21 to 30 of about 6,264 (195)

Sensitivity of Neuroimaging Indicators in Monitoring the Effects of Interferon Gamma Treatment in Friedreich’s Ataxia

Frontiers in Neuroscience, 2020
The identification of efficient markers of disease progression and response to possibly effective treatments is a key priority for slowly progressive, rare and neurodegenerative diseases, such as Friedreich’s ataxia.
Marinela Vavla, Marinela Vavla, Filippo Arrigoni, Nicola Toschi, Nicola Toschi, Denis Peruzzo, Maria Grazia D’Angelo, Sandra Gandossini, Annamaria Russo, Eleonora Diella, Stefania Tirelli, Roberto Salati, Alessandra Rufini, Alessandra Rufini, Ivano Condo, Roberto Testi, Roberto Testi, Andrea Martinuzzi   +17 more
doaj   +1 more source

Friedreich Ataxia [PDF]

Journal of the Neurological Sciences, 2003
There has been rapid progress in the understanding of several aspects of Friedreich's ataxia (FA) since the gene mutation was identified in 1996. At the clinical level, now it is possible to confirm that the majority of patients fullfilling clinical criteria for classic FA have the FA gene mutation but some do not, indicating genetic heterogeneity ...
openaire   +4 more sources

Sensory ataxia and cardiac hypertrophy caused by neurovascular oxidative stress in chemogenetic transgenic mouse lines

Nature Communications, 2023
Oxidative stress is associated with cardiovascular and neurodegenerative diseases. Here we report studies of neurovascular oxidative stress in chemogenetic transgenic mouse lines expressing yeast D-amino acid oxidase (DAAO) in neurons and vascular ...
Shambhu Yadav, Markus Waldeck-Weiermair, Fotios Spyropoulos, Roderick Bronson, Arvind K. Pandey, Apabrita Ayan Das, Alexander C. Sisti, Taylor A. Covington, Venkata Thulabandu, Shari Caplan, William Chutkow, Benjamin Steinhorn, Thomas Michel   +12 more
doaj   +1 more source

In vivo overexpression of frataxin causes toxicity mediated by iron-sulfur cluster deficiency

Molecular Therapy: Methods & Clinical Development, 2022
Friedreich's ataxia is a rare disorder resulting from deficiency of frataxin, a mitochondrial protein implicated in the synthesis of iron-sulfur clusters.
Claudia Huichalaf, Tyler L. Perfitt, Anna Kuperman, Renea Gooch, Ramesh C. Kovi, Karrie A. Brenneman, Xian Chen, Dinesh Hirenallur-Shanthappa, Tiffany Ma, Basel T. Assaf, Ingrid Pardo, Tania Franks, Laura Monarski, Ting-Wen Cheng, Kevin Le, Chunyan Su, Suryanarayan Somanathan, Laurence O. Whiteley, Christine Bulawa, Marko J. Pregel, Alain Martelli   +20 more
doaj   +1 more source

FXN promoter silencing in the humanized mouse model of Friedreich Ataxia [PDF]

, 2015
Background - Friedreich ataxia is caused by an expanded GAA triplet-repeat sequence in intron 1 of the FXN gene that results in epigenetic silencing of the FXN promoter.
Bidichandani, SI, Chutake, YK, Costello, WN, Hughes, TT, Lam, CC, Michalopulos, MG, Parikh, AC, Pook, MA   +7 more
core   +4 more sources

The Friedreich ataxia GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse brain and heart tissues [PDF]

, 2007
Friedreich ataxia (FRDA) is caused by a homozygous GAA repeat expansion mutation within intron 1 of the FXN gene, leading to reduced expression of frataxin protein.
C. Sandi, D. Trabzuni, D. Varshney, M. Pook, O. Ismail, R. M. Pinto, S. Al-Mahdawi, S. Lymperi   +7 more
core   +1 more source

Symptom burden of people with progressive ataxia, and its wider impact on their friends and relatives: a cross-sectional study [version 2; peer review: 1 approved, 2 approved with reservations]

AMRC Open Research, 2023
Background: Progressive ataxias are complex disorders that result in a wide variety of symptoms. Whilst we currently have a relatively good understanding of the spectrum of symptoms associated with the various types of ataxia, and their progression over ...
Julie Greenfield, Anja Lowit, Ruby Wallis, Emily Cutting, Marios Hadjivassiliou   +4 more
doaj   +1 more source

Gene regulation and epigenotype in Friedreich's ataxia [PDF]

, 2008
Friedreich??????s ataxia (FRDA) is known to be provoked by an abnormal GAA-repeat expansion located in the first intron of the FXN gene. As a result of the GAA expansion, patients exhibit low levels of FXN mRNA, leading to FRDA.
Rothe, Nadine, Rothe, Nadine
core   +2 more sources

The smoothened agonist SAG reduces mitochondrial dysfunction and neurotoxicity of frataxin-deficient astrocytes

Journal of Neuroinflammation, 2022
Background Friedreich’s ataxia is a rare hereditary neurodegenerative disease caused by decreased levels of the mitochondrial protein frataxin. Similar to other neurodegenerative pathologies, previous studies suggested that astrocytes might contribute to
Andrés Vicente-Acosta, Alfredo Giménez-Cassina, Javier Díaz-Nido, Frida Loria   +3 more
doaj   +1 more source

Delivery of the 135kb human frataxin genomic DNA locus gives rise to different frataxin isoforms [PDF]

, 2015
© 2015 Elsevier Inc. Friedreich's ataxia (FRDA) is the most common form of hereditary ataxia caused by recessive mutations in the FXN gene. Recent results have indicated the presence of different frataxin isoforms due to alternative gene expression ...
Díaz-Nido, Javier, Fernández-Frias, I., Giménez-Cassina, Alfredo, Pérez-Luz, S., Wade-Martins, R.   +4 more
core   +1 more source