Results 61 to 70 of about 10,061 (229)

Protein Mutations and Stability, a Link with Disease: The Case Study of Frataxin

Biomedicines, 2022
Protein mutations may lead to pathologies by causing protein misfunction or propensity to degradation. For this reason, several studies have been performed over the years to determine the capability of proteins to retain their native conformation under ...
Rita Puglisi
semanticscholar   +1 more source

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, Lesuisse, Emmanuel, Pain, Debkumar, Dancis, Andrew   +3 more
openaire   +2 more sources

Mammalian frataxin: an essential function for cellular viability through an interaction with a preformed ISCU/NFS1/ISD11 iron-sulfur assembly complex.

PLoS ONE, 2011
BackgroundFrataxin, the mitochondrial protein deficient in Friedreich ataxia, a rare autosomal recessive neurodegenerative disorder, is thought to be involved in multiple iron-dependent mitochondrial pathways.
Stéphane Schmucker, Alain Martelli, Florent Colin, Adeline Page, Marie Wattenhofer-Donzé, Laurence Reutenauer, Hélène Puccio   +6 more
doaj   +1 more source

Src inhibitors modulate frataxin protein levels [PDF]

Human Molecular Genetics, 2015
Defective expression of frataxin is responsible for the inherited, progressive degenerative disease Friedreich's Ataxia (FRDA). There is currently no effective approved treatment for FRDA and patients die prematurely. Defective frataxin expression causes critical metabolic changes, including redox imbalance and ATP deficiency.
Cherubini, F, SERIO, DARIO, GUCCINI, ILARIA, Fortuni, S, ARCURI, GAETANO, CONDO', IVANO, RUFINI, ALESSANDRA, Moiz, S, Camerini, S, Crescenzi, M, TESTI, ROBERTO, MALISAN, FLORENCE   +11 more
openaire   +3 more sources

Peripheral blood gene expression reveals an inflammatory transcriptomic signature in Friedreich's ataxia patients. [PDF]

, 2018
Transcriptional changes in Friedreich's ataxia (FRDA), a rare and debilitating recessive Mendelian neurodegenerative disorder, have been studied in affected but inaccessible tissues-such as dorsal root ganglia, sensory neurons and cerebellum-in animal ...
Coppola, Giovanni, Dokuru, Deepika, Farmer, Jennifer, Gao, Fuying, Isaacs, Charles, Lynch, David R, Nachun, Daniel, Perlman, Susan, Sears, Renee, Strawser, Cassandra, Van Berlo, Victoria, Yang, Zhongan   +11 more
core   +1 more source

DNA methylation and trinucleotide repeat expansion diseases [PDF]

, 2012
Copyright @ 2012 InTechThis article has been made available through the Brunel Open Access Publishing Fund.This article is made available through the Brunel Open Access Publishing ...
Pook, M
core   +2 more sources

Partial conservation of functions between eukaryotic frataxin and theEscherichia colifrataxin homolog CyaY [PDF]

FEMS Yeast Research, 2007
Frataxin is a mitochondrial protein structurally conserved from bacteria to humans. Eukaryotic frataxins are known to be involved in the maintenance of mitochondrial iron balance via roles in iron delivery and iron detoxification. The prokaryotic frataxin homolog, CyaY, has been shown to bind and donate iron for the assembly of [2Fe-2S] clusters in ...
Tibor, Bedekovics, Gabriella B, Gajdos, Gyula, Kispal, Grazia, Isaya   +3 more
openaire   +2 more sources

Clinical data and characterization of the liver conditional mouse model exclude neoplasia as a non-neurological manifestation associated with Friedreich’s ataxia

Disease Models & Mechanisms, 2012
SUMMARY Friedreich’s ataxia (FRDA) is the most common hereditary ataxia in the caucasian population and is characterized by a mixed spinocerebellar and sensory ataxia, hypertrophic cardiomyopathy and increased incidence of diabetes.
Alain Martelli, Lisa S. Friedman, Laurence Reutenauer, Nadia Messaddeq, Susan L. Perlman, David R. Lynch, Kathrin Fedosov, Jörg B. Schulz, Massimo Pandolfo, Hélène Puccio   +9 more
doaj   +1 more source

Structure of the human frataxin-bound iron-sulfur cluster assembly complex provides insight into its activation mechanism

Nature Communications, 2019
The core machinery for de novo biosynthesis of iron-sulfur clusters (ISC), located in the mitochondria matrix, is a five-protein complex containing the cysteine desulfurase NFS1 that is activated by frataxin (FXN), scaffold protein ISCU, accessory ...
N. Fox, Xiaodi Yu, Xidong Feng, H. Bailey, A. Martelli, J. Nabhan, C. Strain-Damerell, C. Bulawa, W. Yue, Seungil Han   +9 more
semanticscholar   +1 more source

Selection of Synthetic Proteins to Modulate the Human Frataxin Function

bioRxiv, 2022
Frataxin is a kinetic activator of the mitochondrial supercomplex for iron–sulfur cluster assembly. Low frataxin expression or a decrease in its functionality results in Friedreich’s Ataxia (FRDA).
M. F. Pignataro, Maria Georgina Herrera, Natalia B Fernández, M. Aran, F. Bataglini, Javier Santos   +5 more
semanticscholar   +1 more source