Results 41 to 50 of about 389 (134)
Frataxin Shows Developmentally Regulated Tissue-Specific Expression in the Mouse Embryo
Neurobiology of Disease, 1997 Friedreich ataxia (FRDA) is an autosomal recessive degenerative disease caused either by an intronic GAA triplet repeat expansion that suppresses the expression of the frataxin gene on chromosome 9q13, or, rarely, by point mutations in the frataxin gene.
Sarn Jiralerspong +4 more
doaj +1 more source
Annals of Clinical and Translational Neurology, Volume 13, Issue 8, Page 1733-1735, August 2026.ABSTRACT Friedreich Ataxia (FRDA) is a neurodegenerative disorder of children and young adults associated with cardiomyopathy and other systemic complications. We report a 10‐year‐old girl who presented simultaneously with Acute Myelogenous Leukemia and FRDA who was successfully treated for her leukemia with allogeneic hematopoietic stem cell ...
Alexandra Gitman +5 more
wiley +1 more source
Molecular Therapy: Nucleic Acids, 2018 Frataxin gene (FXN) expression is reduced in Friedreich’s ataxia patients due to an increase in the number of GAA trinucleotides in intron 1. The frataxin protein, encoded by that gene, plays an important role in mitochondria’s iron metabolism.
Khadija Cherif +5 more
doaj +1 more source
Aging Cell, Volume 25, Issue 8, August 2026.Microglia, the brain's resident macrophages, undergo metabolic reprogramming during aging, which impacts brain health and neurodegenerative disease risk. Understanding mechanisms of microglial metabolic regulation is key to the development of therapeutic strategies to promote homeostasis and mitigate harmful neuroinflammatory processes that contribute ...
Seokjo Kang, Helen S. Goodridge
wiley +1 more source
Mitochondrial localization of human frataxin is necessary but processing is not for rescuing frataxin deficiency in Trypanosoma brucei [PDF]
Proceedings of the National Academy of Sciences, 2008 Trypanosoma brucei , the agent of human sleeping sickness and ruminant nagana, is the most genetically tractable representative of the domain Excavata. It is evolutionarily very distant from humans, with a last common ancestor over 1 billion years ago.
Long, Shaojun +3 more
openaire +4 more sources
InsectsFrataxin is a conserved mitochondrial protein essential for cellular iron–sulfur (Fe–S) cluster biogenesis and oxidative balance, with its deficiency causing Friedreich’s ataxia in humans.
Hui-Ming Kang +6 more
doaj +1 more source
Frontiers in Pharmacology, 2014 Friedreich ataxia (FRDA) is the most common recessive ataxia in the Caucasian population and is characterized by a mixed spinocerebellar and sensory ataxia frequently associating cardiomyopathy.
Alain eMartelli, Helene ePuccio
doaj +1 more source
Drug Repositioning in Friedreich Ataxia
Frontiers in Neuroscience, 2022 Friedreich ataxia is a rare neurodegenerative disorder caused by insufficient levels of the essential mitochondrial protein frataxin. It is a severely debilitating disease that significantly impacts the quality of life of affected patients and reduces ...
Alessandra Rufini +6 more
doaj +1 more source
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 +2 more
wiley +1 more source
Frataxin Is Localized to Both the Chloroplast and Mitochondrion and Is Involved in Chloroplast Fe-S Protein Function in Arabidopsis. [PDF]
PLoS ONE, 2015 Frataxin plays a key role in eukaryotic cellular iron metabolism, particularly in mitochondrial heme and iron-sulfur (Fe-S) cluster biosynthesis. However, its precise role has yet to be elucidated. In this work, we studied the subcellular localization of
Valeria R Turowski +8 more
doaj +1 more source