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
core
RTA‐408 Enhances Radiosensitivity and Inhibited Tumor Progression via JNK Pathway in Glioblastoma
The Kaohsiung Journal of Medical Sciences, Volume 42, Issue 6, June 2026.ABSTRACT Glioblastoma (GBM) is an aggressive brain tumor with poor prognosis owing to its high invasiveness and resistance to therapy. RTA‐408, a synthetic triterpenoid and nuclear factor erythroid 2‐related factor 2 activator, exhibits anti‐inflammatory and anti‐cancer properties; however, its effects on GBM remain unclear. This study investigated the
Hung‐Pei Tsai +6 more
wiley +1 more source
Expression and processing of mature human frataxin after gene therapy in mice
Scientific ReportsFriedreich’s ataxia is a degenerative and progressive multisystem disorder caused by mutations in the highly conserved frataxin (FXN) gene that results in FXN protein deficiency and mitochondrial dysfunction.
Teerapat Rojsajjakul +10 more
doaj +1 more source
Friedreich's ataxia: the vicious circle hypothesis revisited
BMC Medicine, 2011 Friedreich's ataxia, the most frequent progressive autosomal recessive disorder involving the central and peripheral nervous systems, is mostly associated with unstable expansion of GAA trinucleotide repeats in the first intron of the FXN gene, which ...
Camadro Jean-Michel +3 more
doaj +1 more source
Unveiling the Power of Deuterium in Drug Discovery: A Comprehensive Overview
MedComm, Volume 7, Issue 6, June 2026.The role of deuterium replacement in drug discovery, its progress, opportunities, and challenges. ABSTRACT Deuterium, the heavy isotope of hydrogen, has unfolded as a cornerstone in modern drug discovery due to its potential to influence metabolic stability and pharmacokinetic behavior.
Mukta Lele +7 more
wiley +1 more source
Redox Regulation and Oxidative Stress in Health and Disease: Mechanisms and Therapeutic Targeting
MedComm – Future Medicine, Volume 5, Issue 2, June 2026.Reactive species serve crucial roles which are tightly regulated in both physiological as well as disease states. At physiological levels, these species are integral to redox signaling, while uncontrolled redox promotes disease pathology. This review examines the dysregulation of these processes.
Mohammad Hossein Azadi +2 more
wiley +1 more source
An Exploration of Vitamin D Deficiency and Clinical Status in Friedreich's Ataxia Patients in the UK
Movement Disorders Clinical Practice, EarlyView.
Zofia Fleszar +4 more
wiley +1 more source
Advanced Science, Volume 13, Issue 26, 8 May 2026.Hyperosmotic stress drives ferroptosis in corneal epithelium via SIRT1 downregulation. This work demonstrates that SIRT1 activation stabilizes HIF1α, which transcriptionally upregulates GPX4 to inhibit lipid peroxidation and cell death. The identified SIRT1/HIF1α/GPX4 axis reveals a novel defense mechanism and potential therapy for dry eye disease ...
Lili Lian +11 more
wiley +1 more source
Transplantation of wild-type mouse hematopoietic stem and progenitor cells ameliorates deficits in a mouse model of Friedreich’s ataxia [PDF]
, 2017 YG8R mice, a model of Friedreich’s ataxia, show amelioration of the disease phenotype when transplanted with wild-type mouse hematopoietic stem and progenitor cells.
Jordan Blondelle +23 more
core +1 more source
The m.14484T>C MT‐ND6 Mutation Presenting with a Hereditary Spastic‐Paraparesis Phenotype
Movement Disorders Clinical Practice, EarlyView.
Gabriel Amorelli +4 more
wiley +1 more source