Results 61 to 70 of about 6,668 (188)

Clinical management guidelines for Friedreich ataxia: best practice in rare diseases

Orphanet Journal of Rare Diseases, 2022
Background Individuals with Friedreich ataxia (FRDA) can find it difficult to access specialized clinical care. To facilitate best practice in delivering healthcare for FRDA, clinical management guidelines (CMGs) were developed in 2014. However, the lack
Louise A. Corben, Veronica Collins, Sarah Milne, Jennifer Farmer, Ann Musheno, David Lynch, Sub Subramony, Massimo Pandolfo, Jörg B. Schulz, Kim Lin, Martin B. Delatycki, the Clinical Management Guidelines Writing Group   +11 more
doaj   +1 more source

Gene editing improves endoplasmic reticulum-mitochondrial contacts and unfolded protein response in Friedreich’s ataxia iPSC-derived neurons

Frontiers in Pharmacology
Friedreich ataxia (FRDA) is a multisystemic, autosomal recessive disorder caused by homozygous GAA expansion mutation in the first intron of frataxin (FXN) gene.
Priyanka Mishra, Anusha Sivakumar, Avalon Johnson, Avalon Johnson, Carla Pernaci, Carla Pernaci, Anna S. Warden, Anna S. Warden, Lilas Rony El-Hachem, Emily Hansen, Emily Hansen, Rafael A. Badell-Grau, Veenita Khare, Gabriela Ramirez, Gabriela Ramirez, Sydney Gillette, Sydney Gillette, Angelyn B. Solis, Peng Guo, Nicole Coufal, Nicole Coufal, Stephanie Cherqui   +21 more
doaj   +1 more source

In vivo survival and differentiation of Friedreich ataxia iPSC‐derived sensory neurons transplanted in the adult dorsal root ganglia

Stem Cells Translational Medicine, 2021
Friedreich ataxia (FRDA) is an autosomal recessive disease characterized by degeneration of dorsal root ganglia (DRG) sensory neurons, which is due to low levels of the mitochondrial protein Frataxin.
Serena Viventi, Stefano Frausin, Sara E. Howden, Shiang Y. Lim, Rocio K. Finol‐Urdaneta, Jeffrey R. McArthur, Kwaku Dad Abu‐Bonsrah, Wayne Ng, Jason Ivanusic, Lachlan Thompson, Mirella Dottori   +10 more
doaj   +1 more source

Genotype and phenotype characterisation of Friedreich ataxia mouse models and cells [PDF]

, 2013
This thesis was submitted for the degree of Doctor of Philosophy and awarded by Brunel UniversityFriedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder, caused by a GAA repeat expansion mutation within intron 1 of the FXN gene ...
Anjomani Virmouni, Sara
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An RNA-seq study in Friedreich ataxia patients identified hsa-miR-148a-3p as a putative prognostic biomarker of the disease

Human Genomics
Friedreich ataxia (FRDA) is a life-threatening hereditary ataxia; its incidence is 1:50,000 individuals in the Caucasian population. A unique therapeutic drug for FRDA, the antioxidant Omaveloxolone, has been recently approved by the US Food and Drug ...
Chiara Vancheri, Andrea Quatrana, Elena Morini, Caterina Mariotti, Alessia Mongelli, Mario Fichera, Alessandra Rufini, Ivano Condò, Roberto Testi, Giuseppe Novelli, Florence Malisan, Francesca Amati   +11 more
doaj   +1 more source

DNA methylation in Friedreich ataxia silences expression of frataxin isoform E

Scientific Reports, 2022
Epigenetic silencing in Friedreich ataxia (FRDA), induced by an expanded GAA triplet-repeat in intron 1 of the FXN gene, results in deficiency of the mitochondrial protein, frataxin.
Layne N. Rodden, Kaitlyn M. Gilliam, Christina Lam, Teerapat Rojsajjakul, Clementina Mesaros, Chiara Dionisi, Mark Pook, Massimo Pandolfo, David R. Lynch, Ian A. Blair, Sanjay I. Bidichandani   +10 more
doaj   +1 more source

Novel Mutation in FRDA Gene among Iranian Patients with Friedreich's Ataxia

Archives of Advances in Biosciences, 2020
Introduction: Friedrich Ataxia’s diagnosis is typically based on clinical symptoms and extended GAA repeats. However, in some rare cases the disease is caused as a result of the mutation in the exons of the FRDA (Friedreich's ataxia) gene. The current study aimed to examine point mutations in exon 1 of the FRDA gene with the goal of finding a better ...
Mousavi Niri, Neda, Houshmand, Seyed Massoud, Naseroleslami, Maryam   +2 more
openaire   +1 more source

Enhanced frataxin expression in FXN-transfected FRDA fibroblasts increases catalase expression.

, 2013
(A) FRDA fibroblast culture transfected with a GFP-tagged FXN gene. (B) Immunoblotting of human frataxin in GFP-tagged frataxin transfected (right) and untransfected (left) FRDA fibroblasts. Upper panels correspond to frataxin; lower panel corresponds to
Kevin Kemp (342472), Elizabeth Mallam (342473), Jonathan Witherick (342475), Alastair Wilkins (342477), Kelly Hares (342474), Neil Scolding (342476)   +5 more
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Circulating miR-323-3p is a biomarker for cardiomyopathy and an indicator of phenotypic variability in Friedreich’s ataxia patients

Scientific Reports, 2017
MicroRNAs (miRNAs) are noncoding RNAs that contribute to gene expression modulation by regulating important cellular pathways. In this study, we used small RNA sequencing to identify a series of circulating miRNAs in blood samples taken from Friedreich’s
M. Seco-Cervera, D. González-Rodríguez, J. S. Ibáñez-Cabellos, L. Peiró-Chova, P. González-Cabo, E. García-López, J. J. Vílchez, I. Sanz-Gallego, F. V. Pallardó, J. L. García-Giménez   +9 more
doaj   +1 more source

Quantitative investigations of FXN transcription and epigenetic modifications, including histone acetylation and methylation, in FRDA human and mouse tissues

, 2009
This thesis was submitted for the degree of Master of Philosophy and awarded by Brunel University.Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder characterized by progressive gait and, limb ataxia, cardiomayopathy ...
Trabzuni, Daniah M
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