Results 11 to 20 of about 5,673 (157)
FEBS Letters, 2002 Friedreich ataxia is the consequence of frataxin deficiency, most often caused by a GAA repeat expansion in intron 1 of the corresponding gene. Frataxin is a mitochondrial protein involved in iron homeostasis. As an attempt to generate a mouse model of the disease, we introduced a (GAA)230 repeat within the mouse frataxin gene by homologous ...
Massimo Pandolfo +2 more
exaly +7 more sources
Frataxin overexpressing mice [PDF]
FEBS Letters, 2004 Friedreich ataxia, the most common autosomal recessive ataxia, is caused by frataxin deficiency. Reduction of frataxin has been associated with iron accumulation and sensitivity to iron induced oxidative stress. To better understand the function of frataxin, transgenic mice (tgFxn) overexpressing human frataxin were generated.
Massimo Pandolfo +2 more
exaly +5 more sources
Stem Cell Transplantation in Friedreich Ataxia: Cure for Leukemia but No Effect on Neurological Progression. [PDF]
Ann Clin Transl NeurolABSTRACT 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 ...
Gitman A +5 more
europepmc +2 more sources
Compound Heterozygote Friedreich Ataxia Patients With Covert Proximal FXN Gene Deletions. [PDF]
Ann Clin Transl NeurolABSTRACT We present Friedreich ataxia patients with frataxin gene deletions. Data and records were collected at the Children's Hospital of Philadelphia from patients enrolled in the FACOMS natural history study. Patients with proximal deletions initially diagnosed with only one GAA expanded allele had more severe disease than their homozygous expansion
Lazaropoulos MP +5 more
europepmc +2 more sources
The Structure and Function of Frataxin [PDF]
Critical Reviews in Biochemistry and Molecular Biology, 2006 Frataxin, a highly conserved protein found in prokaryotes and eukaryotes, is required for efficient regulation of cellular iron homeostasis. Humans with a frataxin deficiency have the cardio- and neurodegenerative disorder Friedreich's ataxia, commonly resulting from a GAA trinucleotide repeat expansion in the frataxin gene.
Krisztina Z, Bencze +6 more
core +5 more sources
In vivo maturation of human frataxin [PDF]
Human Molecular Genetics, 2007 The defective expression of frataxin causes the hereditary neurodegenerative disorder Friedreich's ataxia (FRDA). Human frataxin is synthesized as a 210 amino acid precursor protein, which needs proteolytic processing into mitochondria to be converted into the functional mature form.
CONDO', IVANO +5 more
openaire +5 more sources
Nomlabofusp Treatment Produces Frataxin Levels That Correlate Across Peripheral Tissues: Preclinical and Clinical Support for Surrogate Tissue Sampling. [PDF]
Clin Transl SciABSTRACT Nomlabofusp is a recombinant, cell‐penetrating human frataxin (hFXN) fusion protein in development for the treatment of Friedreich's ataxia (FRDA). This study evaluated whether nomlabofusp‐derived hFXN concentrations covary across accessible peripheral matrices and FRDA‐relevant tissues, supporting the feasibility of surrogate tissue sampling ...
De Toni F +3 more
europepmc +2 more sources
Iron-Sulfur Cluster Targeting: A Novel Perspective for Treating Alcohol-Related Lipid Metabolic Diseases. [PDF]
J Biochem Mol ToxicolAlcohol metabolism induces structural instability of iron‐sulfur clusters through ROS‐mediated oxidative damage and direct covalent modification of acetaldehyde. The iron‐sulfur cluster deficiency drives metabolic reprogramming by inactivating aconitase, accumulating succinate, and impairing tRNA thiolation, thereby promoting hepatic steatosis ...
Xu L +6 more
europepmc +2 more sources
Frataxin and Mitochondrial FeS Cluster Biogenesis [PDF]
Journal of Biological Chemistry, 2010 Friedreich ataxia is an inherited neurodegenerative disease caused by frataxin deficiency. Frataxin is a conserved mitochondrial protein that plays a role in FeS cluster assembly in mitochondria. FeS clusters are modular cofactors that perform essential functions throughout the cell.
Stemmler, Timothy L +3 more
openaire +4 more sources
Quantitative investigations of FXN transcription and epigenetic modifications, including histone acetylation and methylation, in FRDA human and mouse tissues [PDF]
, 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
core +7 more sources