Results 11 to 20 of about 6,668 (188)

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).
Istaq Ahmad, Asangla Kamai, Sana Zahra, Himanshi Kapoor, Achal Kumar Srivastava, Mohammed Faruq   +5 more
doaj   +4 more sources

Generation and characterisation of Friedreich ataxia YG8R mouse fibroblast and neural stem cell models. [PDF]

PLoS ONE, 2014
BackgroundFriedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disease caused by GAA repeat expansion in the first intron of the FXN gene, which encodes frataxin, an essential mitochondrial protein.
Chiranjeevi Sandi, Madhavi Sandi, Harvinder Jassal, Vahid Ezzatizadeh, Sara Anjomani-Virmouni, Sahar Al-Mahdawi, Mark A Pook   +6 more
doaj   +2 more sources

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
core   +10 more sources

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   +4 more sources

Mapping the Friedreich ataxia locus (FRDA) by linkage disequilibrium analysis with highly polymorphic microsatellites

Biomedicine & Pharmacotherapy, 1994
The Friedreich's ataxia locus (FRDA) is tightly linked to markers D9S5 and D9S15 located in 9q13-q21. Cumulated maximum lod scores between FRDA and D9S5 and between FRDA and D9S15 are above 36 and 61, respectively, at a recombination fraction of 0, indicating that recombination events needed to orient the search of the gene are very difficult to ...
Sirugo, G, Duclos, F, Fujita, R, Keats, J B, Pandolfo, Massimo, Mandel, J L, Koenig, Michel   +6 more
openaire   +4 more sources

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

The canine FRDA gene maps to CFA 1q31.1→q31.3 [PDF]

Cytogenetic and Genome Research, 2002
Supported by a grant of the Gesellschaft zur Forderung kynologischer Forschung (GKF) e.V., Bonn. Heidi Kuiper is supported by a grant from the affirmative action program for women of the School of Veterinary Medicine Hannover. Pascale Quignon is supported by funds from the Conseil Regional de Bretagne. The authors would like to thank Heike Klippert and
H, Kuiper, C, Drögemüller, S, Rak, T, Leeb, P, Quignon, C, André, O, Distl   +6 more
openaire   +2 more sources

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

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

A new FRDA mouse model [Fxnnull:YG8s(GAA) > 800] with more than 800 GAA repeats [PDF]

, 2023
[eng] Introduction: Friedreich's ataxia (FRDA) is an inherited recessive neurodegenerative disorder caused by a homozygous guanine-adenine-adenine (GAA) repeat expansion within intron 1 of the FXN gene, which encodes the essential mitochondrial protein ...
Kalef-Ezra, E., Valle, A., Pook, M.A., Khonsari, H., Oggianu, C., Al-Mahdawi, S., Edzeamey, F.J., Anjomani Virmouni, S., Kleine, P.   +8 more
core   +2 more sources