Results 81 to 90 of about 10,061 (229)
Altered sterol metabolism in budding yeast affects mitochondrial iron–sulfur (Fe-S) cluster synthesis [PDF]
, 2018 Ergosterol synthesis is essential for cellular growth and viability of the budding yeast Saccharomyces cerevisiae, and intracellular sterol distribution and homeostasis are therefore highly regulated in this species. Erg25 is an iron-containing C4-methyl
Bard, Martin +7 more
core +1 more source
Chemical shift assignment of a thermophile frataxin [PDF]
Biomolecular NMR Assignments, 2017 Frataxin is the protein responsible for the genetically-inherited neurodegenerative disease Friedreich's ataxia caused by partial silencing of the protein and loss of function. Although the frataxin function is not yet entirely clear, it has been associated to the machine that builds iron-sulfur clusters, essential prosthetic groups involved in several
Rasheed M, Yan R, Kelly G, Pastore A
openaire +4 more sources
PLoS ONE, 2011 Dramatic advances in recent decades in understanding the genetics of Friedreich ataxia (FRDA)--a GAA triplet expansion causing greatly reduced expression of the mitochondrial protein frataxin--have thus far yielded no therapeutic dividend, since there ...
Kevin Kemp +5 more
doaj +1 more source
Metal Ion Binding in Wild-Type and Mutated Frataxin: A Stability Study
Frontiers in Molecular Biosciences, 2022 This work studies the stability of wild-type frataxin and some of its variants found in cancer tissues upon Co2+ binding. Although the physiologically involved metal ion in the frataxin enzymatic activity is Fe2+, as it is customarily done, Co2+ is most ...
S. Morante +17 more
doaj +1 more source
The Friedreich ataxia GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse brain and heart tissues [PDF]
, 2007 Friedreich ataxia (FRDA) is caused by a homozygous GAA repeat expansion mutation within intron 1 of the FXN gene, leading to reduced expression of frataxin protein.
C. Sandi +7 more
core +1 more source
HDAC inhibitors correct frataxin deficiency in a Friedreich ataxia mouse model.
PLoS ONE, 2008 BackgroundFriedreich ataxia, an autosomal recessive neurodegenerative and cardiac disease, is caused by abnormally low levels of frataxin, an essential mitochondrial protein.
Myriam Rai +8 more
doaj +1 more source
A Mussel‐Inspired Bioadhesive Patch to Selectively Kill Glioblastoma Cells
Advanced Science, EarlyView.An innovative mussel‐inspired bioadhesive patch has been developed for post‐surgical glioblastoma treatment. The patch, which adheres strongly in biological environments, releases a localized treatment. This treatment, acting via reactive oxygen species, shows specific toxicity to glioblastoma cells.
Jose Bolaños‐Cardet +5 more
wiley +1 more source
High Levels of Frataxin Overexpression Lead to Mitochondrial and Cardiac Toxicity in Mouse Models
Molecular Therapy: Methods & Clinical Development, 2020 Friedreich ataxia (FA) is currently an incurable inherited mitochondrial disease caused by reduced levels of frataxin (FXN). Cardiac dysfunction is the main cause of premature death in FA.
Brahim Belbellaa +4 more
semanticscholar +1 more source
Nucleic Acids Research, 2021 Friedreich’s ataxia (FRDA) is a severe multisystem disease caused by transcriptional repression induced by expanded GAA repeats located in intron 1 of the Frataxin (FXN) gene encoding frataxin.
Yanjie Li +11 more
semanticscholar +1 more source
CRISPR-Cas9 Gene Editing of Hematopoietic Stem Cells from Patients with Friedreich's Ataxia. [PDF]
, 2020 Friedreich's ataxia (FRDA) is an autosomal recessive neurodegenerative disorder caused by expansion of GAA repeats in intron 1 of the frataxin (FXN) gene, leading to significant decreased expression of frataxin, a mitochondrial iron-binding protein.
Cherqui, Stephanie +7 more
core