Results 31 to 40 of about 5,555 (166)
Translational Neurodegeneration, 2023 Friedreich ataxia (FRDA) is a rare genetic multisystem disorder caused by a pathological GAA trinucleotide repeat expansion in the FXN gene. The numerous drawbacks of historical cellular and rodent models of FRDA have caused difficulty in performing ...
Saumya Maheshwari +2 more
doaj +1 more source
Frontiers in Molecular Biosciences, 2020 Friedreich’s ataxia (FRDA) is a multi-faceted disease characterized by progressive sensory–motor loss, neurodegeneration, brain iron accumulation, and eventual death by hypertrophic cardiomyopathy.
Frances M. Smith, Daniel J. Kosman
doaj +1 more source
Frataxin mRNA Isoforms in FRDA Patients and Normal Subjects: Effect of Tocotrienol Supplementation [PDF]
BioMed Research International, 2013 Friedreich’s ataxia (FRDA) is caused by deficient expression of the mitochondrial protein frataxin involved in the formation of iron-sulphur complexes and by consequent oxidative stress. We analysed low-dose tocotrienol supplementation effects on the expression of the three splice variant isoforms (FXN-1,FXN-2, andFXN-3) in mononuclear blood cells of ...
ABRUZZO, PROVVIDENZA MARIA +8 more
openaire +3 more sources
Cerebral compensation during motor function in Friedreich ataxia: The IMAGE‐FRDA study [PDF]
Movement Disorders, 2017 ABSTRACTBackground: Friedreich ataxia is characterized by progressive motor incoordination that is linked to peripheral, spinal, and cerebellar neuropathology. Cerebral abnormalities are also reported in Friedreich ataxia, but their role in disease expression remains unclear.Methods: In this cross‐sectional functional magnetic resonance imaging study ...
Ian H. Harding +6 more
openaire +3 more sources
Arquivos de Neuro-Psiquiatria, 1999 Friedreich ataxia (FRDA), the most common autosomal recessive ataxia, is caused in 94% of cases by homozygous expansions of an unstable GAA repeat localised in intron 1 of the X25 gene.
IDA V.D. SCHWARTZ +5 more
doaj +1 more source
Retinal hypoplasia and degeneration result in vision loss in Friedreich ataxia
Annals of Clinical and Translational Neurology, 2023 Objective Friedreich ataxia (FRDA) is an inherited condition caused by a GAA triplet repeat (GAA‐TR) expansion in the FXN gene. Clinical features of FRDA include ataxia, cardiomyopathy, and in some, vision loss. In this study, we characterize features of
Layne N. Rodden +9 more
doaj +1 more source
Metal Homeostasis Regulators Suppress FRDA Phenotypes in a Drosophila Model of the Disease
PLOS ONE, 2016 Friedreich's ataxia (FRDA), the most commonly inherited ataxia in populations of European origin, is a neurodegenerative disorder caused by a decrease in frataxin levels. One of the hallmarks of the disease is the accumulation of iron in several tissues including the brain, and frataxin has been proposed to play a key role in iron homeostasis. We found
Soriano, Sirena +7 more
openaire +7 more sources
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Friedreich Ataxia (FRDA) is a neurodegenerative disorder of children and young adults associated with cardiomyopathy and other systemic complications. We report a 10‐year‐old girl who presented simultaneously with Acute Myelogenous Leukemia and FRDA who was successfully treated for her leukemia with allogeneic hematopoietic stem cell ...
Alexandra Gitman +5 more
wiley +1 more source
CRISPR-Cas9 Gene Editing of Hematopoietic Stem Cells from Patients with Friedreich’s Ataxia
Molecular Therapy: Methods & Clinical Development, 2020 Friedreich’s ataxia (FRDA) is an autosomal recessive neurodegenerative disorder caused by expansion of GAA repeats in intron 1 of the frataxin (FXN) gene, leading to significant decreased expression of frataxin, a mitochondrial iron-binding protein.
Celine J. Rocca +7 more
doaj +1 more source
Animal Research and One Health, EarlyView.Heat stress disrupts gut microbial balance in poultry, impairing nutrient absorption and immunity. This review outlines the interplay between thermal stress and microbiome dynamics and discusses integrative mitigation strategies, probiotics, phytogenics, cooling systems, and genetic adaptation to enhance poultry resilience.
O. E. Oke +9 more
wiley +1 more source