Results 31 to 40 of about 5,660 (167)

Molecular Defects in Friedreich’s Ataxia: Convergence of Oxidative Stress and Cytoskeletal Abnormalities

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

Late onset Friedreich's disease: clinical features and mapping of mutation to the FRDA locus. [PDF]

Journal of Neurology, Neurosurgery & Psychiatry, 1994
Twenty two patients from 17 families with Friedreich's disease phenotype but with onset ranging from the ages of 21 to 36 are described. Comparison with "typical" Friedreich's disease with onset before 20 years of age showed only a lower occurrence of skeletal deformities.
DEMICHELE G, FILLA A, CAVALCANTI F, DIMAIO L, PIANESE L, CASTALDO I, CALABRESE O, MONTICELLI A, VARRONE S, CAMPANELLA G, LEONE M, PANDOLFO M, COCOZZA S   +12 more
openaire   +4 more sources

Patient-derived iPSC models of Friedreich ataxia: a new frontier for understanding disease mechanisms and therapeutic application

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, Gabriela Vilema-Enríquez, Richard Wade-Martins   +2 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, Kellie McIntyre, Medina Keita, Mckenzie Wells, Courtney Park, Victoria Profeta, Amy Waldman, Christian Rummey, Laura J. Balcer, David R. Lynch   +9 more
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, MARINI, MARINA, BOLOTTA, ALESSANDRA, Gemma Malisardi, Stefano Manfredini, GHEZZO, ALESSANDRO, Antonella Pini, TASCO, GIANLUCA, CASADIO, RITA   +8 more
openaire   +3 more sources

Clinical and molecular studies in five Brazilian cases of Friedreich ataxia Avaliação clínica e molecular de cinco pacientes brasileiros com ataxia de Friedreich

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, LAURA B. JARDIM, ANA C.S. PUGA, SÉRGIO COCOZZA, SANDRA LEISTNER, LUCIANE C. LIMA   +5 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, Calap-Quintana, Pablo, Vicente Llorens, Jose, Al-Ramahi, Ismael, Gutierrez, Lucia, Jose Martinez-Sebastian, Maria, Botas, Juan, Dolores Molto, Maria   +7 more
openaire   +7 more sources

Disarrangement of Endoplasmic reticulum-mitochondria communication impairs Ca ²⁺ homeostasis in FRDA [PDF]

, 2020
Abstract Friedreich ataxia (FRDA) is a neurodegenerative disorder characterized by neuromuscular and neurological manifestations. It is caused by mutations in gene FXN, which results in loss of the mitochondrial protein frataxin. Endoplasmic Reticulum-mitochondria associated membranes (MAMs) are inter-organelle structures involved in ...
Rodríguez, Laura R., Calap-Quintana, Pablo, Lapeña-Luzón, Tamara, Pallardó, Federico V., Schneuwly, Stephan, Navarro, Juan A., Gonzalez-Cabo, Pilar   +6 more
openaire   +1 more source

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, Louise A. Corben, Martin B. Delatycki, Monique R. Stagnitti, Elsdon Storey, Gary F. Egan, Nellie Georgiou‐Karistianis   +6 more
openaire   +3 more sources

Heat Stress and Gut Microbiome Dynamics in Poultry: Interplay, Consequences, and Mitigation Strategies

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, A. I. Oni, O. A. Akosile, K. M. Oliyide, C. A. Ishola, M. O. Logunleko, O. A. Jimoh, C. P. Njoku, L. O. Fasasi, V. A. Uyanga   +9 more
wiley   +1 more source