Results 1 to 10 of about 5,527 (152)

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.
Siping Zhu, Xinyi Sun, Xinyi Sun, Hong Li, Yongmei Su, Chihuan Li, Xintong Zhu, Chao Ren, Xiaochen Liu, Yulai Dong, Qiumei Shi, Zhiqiang Zhang   +11 more
doaj   +4 more sources

Frataxin expression rescues mitochondrial dysfunctions in FRDA cells [PDF]

Human Molecular Genetics, 2001
Friedreich's ataxia (FRDA) is the result of mutations in the nuclear-encoded frataxin gene, which is expressed in mitochondria. Several lines of evidence have suggested that frataxin is involved in mitochondrial iron homeostasis. We have transfected the frataxin gene into lymphoblasts of FRDA compound heterozygotes (FRDA-CH) with deficient frataxin ...
Bo Lonnerdal, Cinzia Gellera, Gino Cortopassi   +2 more
exaly   +3 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

Comparison of three clinical rating scales in Friedreich ataxia (FRDA)

Movement Disorders, 2009
AbstractTo test the validity and reliability of the scale for the assessment and rating of ataxia (SARA) in Friedreich ataxia (FRDA). SARA is limited to eight items and can be performed rapidly. Ninety‐six patients with a molecular genetic diagnosis of FRDA were rated using three different clinical scales, the FRDA Rating Scale (FARS), the ...
Stefanie Wolf, Suzette Heck, Sascha Hering   +2 more
exaly   +4 more sources

Efficient attenuation of Friedreich's ataxia (FRDA) cardiomyopathy by modulation of iron homeostasis-human induced pluripotent stem cell (hiPSC) as a drug screening platform for FRDA [PDF]

International Journal of Cardiology, 2016
Friedreich's ataxia (FRDA), a recessive neurodegenerative disorder commonly associated with hypertrophic cardiomyopathy, is caused by silencing of the frataxin (FXN) gene encoding the mitochondrial protein involved in iron-sulfur cluster biosynthesis.Application of our previously established FRDA human induced pluripotent stem cell (hiPSC) derived ...
Yee-Ki Lee, Yee-Man Lau, Kwong-Man Ng
exaly   +5 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

Haplotype construction of the FRDA gene and evaluation of its role in type II diabetes [PDF]

European Journal of Human Genetics, 2005
A GAA-repeat in the X25 gene is causing Friedreich's ataxia (FRDA), a common neurodegenerative disease and >20% of FRDA patients develop type II diabetes (T2D). Linkage has previously been detected between T2D and chromosome 9p13-q21, the region that harbours the X25 gene, but association studies of this gene in T2D have been contradicting.
Marco Zucchelli, Juha Kêre, Leif Groop   +2 more
exaly   +3 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

Iron, FRDA, and intermediary metabolism [PDF]

Blood, 2021
Kostas Pantopoulos, Pantopoulos Kostas
exaly   +3 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