Results 1 to 10 of about 5,555 (166)

Characterization and immunoprotective efficacy of a fumarate reductase frdA mutant of Salmonella enteritidis [PDF]

Frontiers in Microbiology
BackgroundSalmonella has the ability to adapt to variable environments by modulating metabolism. The Tricarboxylic Acid Cycle (TCA), as a core metabolic process, is critical for the environmental adaptation and infection process of Salmonella.
Qiumei Shi, Shi Qiumei, Sun Xinyi
exaly   +6 more sources

Generation and characterization of iPSC lines from Friedreich’s ataxia patient (FRDA) with GAA.TTC repeat expansion in the Frataxin (FXN) gene’s first intron (IGIBi016-A) and a non-FRDA healthy control individual (IGIBi017-A)

Stem Cell Research
Friedreich’s ataxia is a spinocerebellar degenerative disease caused by microsatellite (GAA.TTC)n repeat expansion in the first intron of FXN gene. Here, we developed iPSC lines from an FRDA patient (IGIBi016-A) and non-FRDA healthy control (IGIBi017-A).
Mohammed Faruq, Achal Kumar Srivastava
exaly   +5 more sources

Positron emission tomography reveals increased myocardial glucose uptake in a subset of Friedreich ataxia patients [PDF]

Scientific Reports
Why some but not all patients with the rare disease Friedreich ataxia (FRDA) are at increased risk of poor cardiovascular outcome and death is unclear and unpredictable.
R. Mark Payne, Thomas M. O’Connell, P. Melanie Pride, Gregg R. Wagner, George J. Eckert, Tiffany R. Johnson, Weinian Shou, Gary D. Hutchins   +7 more
doaj   +2 more sources

Myo-inositol elevation as an in vivo marker of reactive gliosis in pediatric Friedreich ataxia: evidence from HERMES-edited MR spectroscopy [PDF]

NeuroImage: Clinical
Background: Friedreich ataxia (FRDA) is a rare neurodegenerative disorder caused by frataxin deficiency and is characterized by mitochondrial dysfunction, oxidative stress, and progressive motor dysfunction.
William Gaetz, Muhammad G. Saleh, Charlotte Birnbaum, Luke Bloy, Timothy P.L. Roberts, David R. Lynch   +5 more
doaj   +2 more sources

Oxidative Stress and Antioxidant Therapies in Friedreich’s Ataxia [PDF]

Cells
The pathogenesis of Friedreich’s ataxia (FRDA) remains poorly understood. The most important event is the deficiency of frataxin, a protein related to iron metabolism and, therefore, involved in oxidative stress.
Félix Javier Jiménez-Jiménez, Hortensia Alonso-Navarro, Elena García-Martín, Alba Cárcamo-Fonfría, Miguel Angel Martín-Gómez, José A. G. Agúndez   +5 more
doaj   +2 more sources

Friedreich's Ataxia Frequency in a Large Cohort of Genetically Undetermined Ataxia Patients

Frontiers in Neurology, 2021
Background: Patients with suspected genetic ataxia are often tested for Friedreich's ataxia (FRDA) and/or a variety of spinocerebellar ataxias (SCAs). FRDA can present with atypical, late-onset forms and so may be missed in the diagnostic process.
Alexander F. Brown, Michael H. Parkinson, Hector Garcia-Moreno, Ese Mudanohwo, Robyn Labrum, Mary Sweeney, Paola Giunti   +6 more
doaj   +1 more source

Ocular Involvement in Friedreich Ataxia Patients and Its Relationship with Neurological Disability, a Follow-Up Study

Diagnostics, 2020
Background: This study compared functional and structural visual changes in Friedreich ataxia (FRDA) patients with healthy controls (HC) and correlated these changes with neurological disability.
Pilar Rojas, Ana I. Ramírez, Rosa de Hoz, Manuel Cadena, Antonio Ferreras, Blanca Monsalve, Elena Salobrar-García, José L. Muñoz-Blanco, José L. Urcelay-Segura, Juan J. Salazar, José M. Ramírez   +10 more
doaj   +1 more source

Bone Mineral Density and Current Bone Health Screening Practices in Friedreich’s Ataxia

Frontiers in Neuroscience, 2022
IntroductionFriedreich’s Ataxia (FRDA) is a progressive neurological disorder caused by mutations in both alleles of the frataxin (FXN) gene. Impaired bone health is a complication of other disorders affecting mobility, but there is little information ...
Julia Dunn, Jaclyn Tamaroff, Jaclyn Tamaroff, Anna DeDio, Sara Nguyen, Kristin Wade, Nicolette Cilenti, David R. Weber, David R. Weber, David R. Lynch, David R. Lynch, Shana E. McCormack, Shana E. McCormack   +12 more
doaj   +1 more source

Perspectives on current models of Friedreich’s ataxia

Frontiers in Cell and Developmental Biology, 2022
Friedreich’s ataxia (FRDA, OMIM#229300) is the most common hereditary ataxia, resulting from the reduction of frataxin protein levels due to the expansion of GAA repeats in the first intron of the FXN gene.
Simge Kelekçi, Abdullah Burak Yıldız, Kenan Sevinç, Deniz Uğurlu Çimen, Tamer Önder   +4 more
doaj   +1 more source

Advantages and Limitations of Gene Therapy and Gene Editing for Friedreich’s Ataxia

Frontiers in Genome Editing, 2022
Friedreich’s ataxia (FRDA) is an inherited, multisystemic disorder predominantly caused by GAA hyper expansion in intron 1 of frataxin (FXN) gene. This expansion mutation transcriptionally represses FXN, a mitochondrial protein that is required for iron ...
Anusha Sivakumar, Stephanie Cherqui
doaj   +1 more source