Results 51 to 60 of about 5,660 (167)

Mesenchymal Stem Cell‐Based Therapy for Cerebellar Ataxia: From Bench to Bedside

CNS Neuroscience &Therapeutics, Volume 32, Issue 7, July 2026.
Allogeneic hMSCs transplanted across LPS, Ara‐C, and SCA2 cerebellar ataxia (CA) models suppress neuroinflammation and restore the neurotrophin axis, collectively preserving Purkinje cell integrity. These preclinical findings are being translated clinically, from a first‐in‐human case report to an ongoing Phase II/III randomized trial (NCT02540655 ...
Kyoungho Suk, Ho‐Won Lee, Sang Ryong Kim   +2 more
wiley   +1 more source

Human frataxin, the Friedreich ataxia deficient protein, interacts with mitochondrial respiratory chain

Cell Death and Disease, 2023
Friedreich ataxia (FRDA) is a rare, inherited neurodegenerative disease caused by an expanded GAA repeat in the first intron of the FXN gene, leading to transcriptional silencing and reduced expression of frataxin.
Davide Doni, Federica Cavion, Marco Bortolus, Elisa Baschiera, Silvia Muccioli, Giulia Tombesi, Federica d’Ettorre, Daniele Ottaviani, Elena Marchesan, Luigi Leanza, Elisa Greggio, Elena Ziviani, Antonella Russo, Milena Bellin, Geppo Sartori, Donatella Carbonera, Leonardo Salviati, Paola Costantini   +17 more
doaj   +1 more source

Petropower in Law‐Enforcement Advertising at Super Bowl LIX

The Geographical Journal, Volume 192, Issue 2, June 2026.
Short Abstract This paper examines a recruitment commercial from the Super Bowl on 9 February 2025 in terms of its spectacularisation of petroleum's abiding yet volatile influence. The minute‐long piece on behalf of federal law enforcement indicates how the workings of power in the United States of America are entangled with the ubiquity of oil ...
Daniel A. Finch‐Race, Pancho Lewis
wiley   +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

Strict Aerobic Lifestyle and Anaerobic Survival of Bacteria: Inseparable Twins?

Molecular Microbiology, Volume 125, Issue 6, Page 546-551, June 2026.
ABSTRACT For many decades the existence of strict aerobic bacteria was part of every textbook. However, considering habitats like soils or surfaces, many of these microorganisms are exposed to drastic changes in oxygen tension. A simple rain shower can change oxygen diffusion rates by a factor of 10.000.
Meina Neumann‐Schaal, José Manuel Borrero‐de Acuña, Dieter Jahn   +2 more
wiley   +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

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

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

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

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