Results 71 to 80 of about 3,918 (176)

An Exploration of Vitamin D Deficiency and Clinical Status in Friedreich's Ataxia Patients in the UK

Movement Disorders Clinical Practice, EarlyView.
Zofia Fleszar, Gilbert Thomas‐Black, Hector Garcia‐Moreno, Arron Cook, Paola Giunti   +4 more
wiley   +1 more source

When R‐Loops Go Awry: Genome Instability and Neurological Diseases

European Journal of Neuroscience, Volume 63, Issue 8, April 2026.
DNA normally exists as a double helix formed by two complementary strands. During gene transcription, however, one strand of DNA can bind to RNA, causing the other DNA strand to be displaced. This creates a structure called an R‐loop. R‐loops play important roles in normal cellular processes such as gene expression, DNA replication, and transcription ...
Nur Rasyiqin Rasli, Yu Katsuyama
wiley   +1 more source

Coexistence of Friedreich's Ataxia and Esophageal Cancer: A Case Report

Clinical Case Reports, Volume 14, Issue 3, March 2026.
ABSTRACT Friedreich's ataxia (FA) is a rare autosomal recessive neurodegenerative disorder. Although FA is frequently associated with cardiomyopathy and diabetes mellitus, its coexistence with solid malignancies is exceptionally rare. To date, only a limited number of gastrointestinal cancers have been reported in patients with FA.
Alireza Mehrban, Abdolreza Babamahmoodi, Mohammad Taghi Hamidian, Bahar Amiri, Parand Ramzani, Mehdi Karimi   +5 more
wiley   +1 more source

Nerve Ultrasound in Patients With Friedreich Ataxia

Muscle &Nerve, Volume 73, Issue 3, Page 395-402, March 2026.
ABSTRACT Introduction/Aims Nerve enlargement has been reported in patients with Friedreich ataxia (FRDA). The underlying cause remains unclear, and both inflammatory processes and dysmyelination have been suggested as potential mechanisms. This study was aimed at assessing nerve morphology with high‐resolution ultrasound, to identify and describe ...
Katharina Kneer, Jan‐Hendrik Stahl, Natalie Winter, Julia Wittlinger, Stephanie Männlin, Toghrul Gasimli, Ludger Schöls, Zofia Fleszar, Stefanie Hayer, Alexander Grimm   +9 more
wiley   +1 more source

Ancestral roles of eukaryotic frataxin: mitochondrial frataxin function and heterologous expression of hydrogenosomal Trichomonas homologues in trypanosomes [PDF]

Molecular Microbiology, 2008
SummaryFrataxin is a small conserved mitochondrial protein; in humans, mutations affecting frataxin expression or function result in Friedreich's ataxia. Much of the current understanding of frataxin function comes from informative studies with yeast models, but considerable debates remain with regard to the primary functions of this ubiquitous protein.
Long, Shaojun, Jirku, Milan, Mach, Jan, Ginger, Michael L., Sutak, Robert, Richardson, Des, Tachezy, Jan, Lukes, Julius   +7 more
openaire   +2 more sources

High‐Throughput Platform for Discovery of Chemical Inhibitors of Heat Shock Protein 70 (Hsp70): Adaptation for the Specialized Bacterial HscA–HscB–IscU Complex

Chemical Biology &Drug Design, Volume 107, Issue 3, March 2026.
The HscA–HscB–IscU system functions in iron–sulfur (Fe‐S) cluster biogenesis in bacteria and fungi, including pathogenic strains. Here, we describe a high‐throughput screen (HTS) to measure inorganic phosphate release from the ATPase HscA within this reconstituted, multi‐protein complex.
Arielle Shkedi, Aneta Grabinska‐Rogala, Jason Hernandez, Rafał Dutkiewicz, Jaroslaw Marszalek, Jason E. Gestwicki   +5 more
wiley   +1 more source

Turning Saccharomyces cerevisiae into a Frataxin-Independent Organism.

PLoS Genetics, 2015
Frataxin (Yfh1 in yeast) is a conserved protein and deficiency leads to the neurodegenerative disease Friedreich's ataxia. Frataxin is a critical protein for Fe-S cluster assembly in mitochondria, interacting with other components of the Fe-S cluster ...
Heeyong Yoon, Simon A B Knight, Alok Pandey, Jayashree Pain, Serdar Turkarslan, Debkumar Pain, Andrew Dancis   +6 more
doaj   +1 more source

ALDH2 Mediated Ferroptosis Regulation in Ischemia–Reperfusion Injury

Journal of Cellular and Molecular Medicine, Volume 30, Issue 6, March 2026.
ABSTRACT Ischemia–reperfusion injury (IRI) is a common complication in diverse clinical settings, including myocardial infarction, stroke, organ transplantation and major surgery. Its pathological core lies in the metabolic disruption caused by blood flow cessation, followed by oxidative stress, inflammatory cascades and cell death upon reperfusion ...
Liang Han, Wen Zhai
wiley   +1 more source

Placental iron utilisation in fetal growth restriction: alterations in mitochondrial haem synthesis and iron–sulphur cluster assembly pathways

The Journal of Physiology, Volume 604, Issue 5, Page 2229-2249, 1 March 2026.
Abstract figure legend Altered iron handling and mitochondrial pathways in FGR placentas. Placental tissue from FGR pregnancies showed increased expression of iron importers, transferrin and divalent metal transporter 1, and decreased expression of the iron exporter ferroportin, suggesting that the FGR placenta is retaining iron to meet its own ...
Veronica B. Botha, Heather C. Murray, Siddharth Acharya, Kirsty G. Pringle, Roger Smith, Joshua J. Fisher   +5 more
wiley   +1 more source

Domain Specific Placebo Response in the Modified Friedreich's Ataxia Rating Scale

Annals of Clinical and Translational Neurology, Volume 13, Issue 2, Page 393-398, February 2026.
ABSTRACT The placebo response in clinical trials in ataxias complicates outcome interpretation and potentially obscures genuine treatment effects. We analyzed placebo group data from past trials in Friedreich Ataxia and observed notable responses in appendicular items, in contrast to minimal changes in axial function, as measured by respective ...
Christian Rummey, Jennifer M. Farmer, David R. Lynch   +2 more
wiley   +1 more source