Mitochondrial impairment, decreased sirtuin activity and protein acetylation in dorsal root ganglia in Friedreich Ataxia models
Cell Mol Life Sci. 2023 Dec 21;81(1):12. doi: 10.1007/s00018-023-05064-4.ABSTRACTFriedreich ataxia (FA) is a rare, recessive neuro-cardiodegenerative disease caused by deficiency of the mitochondrial protein frataxin. Mitochondrial dysfunction, a reduction in the activity of iron-sulfur enzymes, iron accumulation, and increased oxidative stress have been described. Dorsal root ganglion (DRG) sensory neurons are among the cellular types most affected in the early stages of this disease. However, its effect on mitochondrial function remains to be elucidated. In the present study, we found that in primary cultures of DRG neur...
Source: Cellular and Molecular Life Sciences : CMLS - December 21, 2023 Category: Cytology Authors: Arabela Sanz-Alc ázar Elena Britti Fabien Delaspre Marta Medina-Carbonero Maria Pazos-Gil Jordi Tamarit Joaquim Ros Elisa Cabiscol Source Type: research
Mitochondrial impairment, decreased sirtuin activity and protein acetylation in dorsal root ganglia in Friedreich Ataxia models
Cell Mol Life Sci. 2023 Dec 21;81(1):12. doi: 10.1007/s00018-023-05064-4.ABSTRACTFriedreich ataxia (FA) is a rare, recessive neuro-cardiodegenerative disease caused by deficiency of the mitochondrial protein frataxin. Mitochondrial dysfunction, a reduction in the activity of iron-sulfur enzymes, iron accumulation, and increased oxidative stress have been described. Dorsal root ganglion (DRG) sensory neurons are among the cellular types most affected in the early stages of this disease. However, its effect on mitochondrial function remains to be elucidated. In the present study, we found that in primary cultures of DRG neur...
Source: Cellular and Molecular Life Sciences : CMLS - December 21, 2023 Category: Cytology Authors: Arabela Sanz-Alc ázar Elena Britti Fabien Delaspre Marta Medina-Carbonero Maria Pazos-Gil Jordi Tamarit Joaquim Ros Elisa Cabiscol Source Type: research
Mitochondrial impairment, decreased sirtuin activity and protein acetylation in dorsal root ganglia in Friedreich Ataxia models
Cell Mol Life Sci. 2023 Dec 21;81(1):12. doi: 10.1007/s00018-023-05064-4.ABSTRACTFriedreich ataxia (FA) is a rare, recessive neuro-cardiodegenerative disease caused by deficiency of the mitochondrial protein frataxin. Mitochondrial dysfunction, a reduction in the activity of iron-sulfur enzymes, iron accumulation, and increased oxidative stress have been described. Dorsal root ganglion (DRG) sensory neurons are among the cellular types most affected in the early stages of this disease. However, its effect on mitochondrial function remains to be elucidated. In the present study, we found that in primary cultures of DRG neur...
Source: Cellular and Molecular Life Sciences : CMLS - December 21, 2023 Category: Cytology Authors: Arabela Sanz-Alc ázar Elena Britti Fabien Delaspre Marta Medina-Carbonero Maria Pazos-Gil Jordi Tamarit Joaquim Ros Elisa Cabiscol Source Type: research
Mitochondrial impairment, decreased sirtuin activity and protein acetylation in dorsal root ganglia in Friedreich Ataxia models
Cell Mol Life Sci. 2023 Dec 21;81(1):12. doi: 10.1007/s00018-023-05064-4.ABSTRACTFriedreich ataxia (FA) is a rare, recessive neuro-cardiodegenerative disease caused by deficiency of the mitochondrial protein frataxin. Mitochondrial dysfunction, a reduction in the activity of iron-sulfur enzymes, iron accumulation, and increased oxidative stress have been described. Dorsal root ganglion (DRG) sensory neurons are among the cellular types most affected in the early stages of this disease. However, its effect on mitochondrial function remains to be elucidated. In the present study, we found that in primary cultures of DRG neur...
Source: Cellular and Molecular Life Sciences : CMLS - December 21, 2023 Category: Cytology Authors: Arabela Sanz-Alc ázar Elena Britti Fabien Delaspre Marta Medina-Carbonero Maria Pazos-Gil Jordi Tamarit Joaquim Ros Elisa Cabiscol Source Type: research
Mitochondrial impairment, decreased sirtuin activity and protein acetylation in dorsal root ganglia in Friedreich Ataxia models
Cell Mol Life Sci. 2023 Dec 21;81(1):12. doi: 10.1007/s00018-023-05064-4.ABSTRACTFriedreich ataxia (FA) is a rare, recessive neuro-cardiodegenerative disease caused by deficiency of the mitochondrial protein frataxin. Mitochondrial dysfunction, a reduction in the activity of iron-sulfur enzymes, iron accumulation, and increased oxidative stress have been described. Dorsal root ganglion (DRG) sensory neurons are among the cellular types most affected in the early stages of this disease. However, its effect on mitochondrial function remains to be elucidated. In the present study, we found that in primary cultures of DRG neur...
Source: Cellular and Molecular Life Sciences : CMLS - December 21, 2023 Category: Cytology Authors: Arabela Sanz-Alc ázar Elena Britti Fabien Delaspre Marta Medina-Carbonero Maria Pazos-Gil Jordi Tamarit Joaquim Ros Elisa Cabiscol Source Type: research
Mitochondrial impairment, decreased sirtuin activity and protein acetylation in dorsal root ganglia in Friedreich Ataxia models
Cell Mol Life Sci. 2023 Dec 21;81(1):12. doi: 10.1007/s00018-023-05064-4.ABSTRACTFriedreich ataxia (FA) is a rare, recessive neuro-cardiodegenerative disease caused by deficiency of the mitochondrial protein frataxin. Mitochondrial dysfunction, a reduction in the activity of iron-sulfur enzymes, iron accumulation, and increased oxidative stress have been described. Dorsal root ganglion (DRG) sensory neurons are among the cellular types most affected in the early stages of this disease. However, its effect on mitochondrial function remains to be elucidated. In the present study, we found that in primary cultures of DRG neur...
Source: Cellular and Molecular Life Sciences : CMLS - December 21, 2023 Category: Cytology Authors: Arabela Sanz-Alc ázar Elena Britti Fabien Delaspre Marta Medina-Carbonero Maria Pazos-Gil Jordi Tamarit Joaquim Ros Elisa Cabiscol Source Type: research
Human frataxin, the Friedreich ataxia deficient protein, interacts with mitochondrial respiratory chain
Cell Death & Disease, Published online: 08 December 2023; doi:10.1038/s41419-023-06320-yHuman frataxin, the Friedreich ataxia deficient protein, interacts with mitochondrial respiratory chain (Source: Cell death and disease)
Source: Cell death and disease - December 8, 2023 Category: Internal Medicine Authors: Doni Davide Cavion Federica Bortolus Marco Baschiera Elisa Muccioli Silvia Tombesi Giulia d ’Ettorre Federica Daniele Ottaviani Marchesan Elena Leanza Luigi Greggio Elisa Ziviani Elena Russo Antonella Bellin Milena Sartori Geppo Carbonera Donatella Salv Source Type: research
Frataxin analysis using triple quadrupole mass spectrometry: application to a large heterogeneous clinical cohort
ConclusionThe present data show that assay of FXN-M and FXN-E levels in blood provides an appropriate biofluid for assessing their repletion in particular clinical contexts. (Source: Journal of Neurology)
Source: Journal of Neurology - December 8, 2023 Category: Neurology Source Type: research
Structural peculiarities of tandem repeats and their clinical significance
In this study, we employed our novel algorithm grounded in finite automata theory, which we refer to as Dafna, to investigate for the first time the likelihood of these nucleotide sequences forming non-canonical DNA structures (NS). Such structures include G-quadruplexes, i-motifs, hairpins, and triplexes. The tandem repeats under consideration in our research encompassed sequences containing 1 to 6 nucleotides per repeated fragment. For comparison, we employed a set of randomly generated sequences of the same length (60 nucleotides) as a benchmark. The outcomes of our research exposed a disparity between the potential for...
Source: Biochemical and Biophysical Research communications - December 6, 2023 Category: Biochemistry Authors: Stanislav S Bachurin Mikhail V Yurushkin Ilya A Slynko Mikhail E Kletskii Oleg N Burov Dmitriy P Berezovskiy Source Type: research
Recent progress and applications of small molecule inhibitors of Keap1-Nrf2 axis for neurodegenerative diseases
Eur J Med Chem. 2023 Nov 29;264:115998. doi: 10.1016/j.ejmech.2023.115998. Online ahead of print.ABSTRACTThe Kelch-like ECH-associated protein 1 (Keap1)-nuclear factor erythroid 2-related factor 2 (Nrf2) pathway serves as a crucial regulator against oxidative stress (OS) damage in various cells and organs. It has garnered significant attention as a potential therapeutic target for neurodegenerative diseases (NDD). Although progress has been achieved in strategies to regulate the Keap1-Nrf2 pathway, the availability of Nrf2 activators applicable to NDD is currently limited. Currently, the FDA has approved the Nrf2 activator...
Source: European Journal of Medicinal Chemistry - December 3, 2023 Category: Chemistry Authors: Jing Wang Yu Cao Yang Lu Huajian Zhu Jiankang Zhang Jinxin Che Rangxiao Zhuang Jiaan Shao Source Type: research
A modified mouse model of Friedreich's ataxia with conditional < em > Fxn < /em > allele homozygosity delays onset of cardiomyopathy
Am J Physiol Heart Circ Physiol. 2023 Dec 1. doi: 10.1152/ajpheart.00496.2023. Online ahead of print.ABSTRACTFriedreich's ataxia (FA) is an autosomal recessive disorder caused by a deficiency in frataxin (FXN), a mitochondrial protein that plays a critical role in the synthesis of iron sulfur clusters (Fe-S), vital inorganic cofactors necessary for numerous cellular processes. FA is characterized by progressive ataxia and hypertrophic cardiomyopathy, with cardiac dysfunction as the most common cause of mortality in patients. Commonly used cardiac-specific mouse models of FA utilize the muscle creatine kinase (MCK) promoter...
Source: American Journal of Physiology. Heart and Circulatory Physiology - December 1, 2023 Category: Physiology Authors: Tyler L Perfitt Claudia Huichalaf Renea Gooch Anna Kuperman Youngwook Ahn Xian Chen Soumya Ullas Dinesh Hirenallur-Shanthappa Yutian Zhan Diana Otis Laurence O Whiteley Christine Bulawa Alain Martelli Source Type: research
A modified mouse model of Friedreich's ataxia with conditional < em > Fxn < /em > allele homozygosity delays onset of cardiomyopathy
Am J Physiol Heart Circ Physiol. 2023 Dec 1. doi: 10.1152/ajpheart.00496.2023. Online ahead of print.ABSTRACTFriedreich's ataxia (FA) is an autosomal recessive disorder caused by a deficiency in frataxin (FXN), a mitochondrial protein that plays a critical role in the synthesis of iron sulfur clusters (Fe-S), vital inorganic cofactors necessary for numerous cellular processes. FA is characterized by progressive ataxia and hypertrophic cardiomyopathy, with cardiac dysfunction as the most common cause of mortality in patients. Commonly used cardiac-specific mouse models of FA utilize the muscle creatine kinase (MCK) promoter...
Source: American Journal of Physiology. Heart and Circulatory Physiology - December 1, 2023 Category: Physiology Authors: Tyler L Perfitt Claudia Huichalaf Renea Gooch Anna Kuperman Youngwook Ahn Xian Chen Soumya Ullas Dinesh Hirenallur-Shanthappa Yutian Zhan Diana Otis Laurence O Whiteley Christine Bulawa Alain Martelli Source Type: research
A modified mouse model of Friedreich's ataxia with conditional < em > Fxn < /em > allele homozygosity delays onset of cardiomyopathy
Am J Physiol Heart Circ Physiol. 2023 Dec 1. doi: 10.1152/ajpheart.00496.2023. Online ahead of print.ABSTRACTFriedreich's ataxia (FA) is an autosomal recessive disorder caused by a deficiency in frataxin (FXN), a mitochondrial protein that plays a critical role in the synthesis of iron sulfur clusters (Fe-S), vital inorganic cofactors necessary for numerous cellular processes. FA is characterized by progressive ataxia and hypertrophic cardiomyopathy, with cardiac dysfunction as the most common cause of mortality in patients. Commonly used cardiac-specific mouse models of FA utilize the muscle creatine kinase (MCK) promoter...
Source: American Journal of Physiology. Heart and Circulatory Physiology - December 1, 2023 Category: Physiology Authors: Tyler L Perfitt Claudia Huichalaf Renea Gooch Anna Kuperman Youngwook Ahn Xian Chen Soumya Ullas Dinesh Hirenallur-Shanthappa Yutian Zhan Diana Otis Laurence O Whiteley Christine Bulawa Alain Martelli Source Type: research
A modified mouse model of Friedreich's ataxia with conditional < em > Fxn < /em > allele homozygosity delays onset of cardiomyopathy
Am J Physiol Heart Circ Physiol. 2023 Dec 1. doi: 10.1152/ajpheart.00496.2023. Online ahead of print.ABSTRACTFriedreich's ataxia (FA) is an autosomal recessive disorder caused by a deficiency in frataxin (FXN), a mitochondrial protein that plays a critical role in the synthesis of iron sulfur clusters (Fe-S), vital inorganic cofactors necessary for numerous cellular processes. FA is characterized by progressive ataxia and hypertrophic cardiomyopathy, with cardiac dysfunction as the most common cause of mortality in patients. Commonly used cardiac-specific mouse models of FA utilize the muscle creatine kinase (MCK) promoter...
Source: American Journal of Physiology. Heart and Circulatory Physiology - December 1, 2023 Category: Physiology Authors: Tyler L Perfitt Claudia Huichalaf Renea Gooch Anna Kuperman Youngwook Ahn Xian Chen Soumya Ullas Dinesh Hirenallur-Shanthappa Yutian Zhan Diana Otis Laurence O Whiteley Christine Bulawa Alain Martelli Source Type: research
A modified mouse model of Friedreich's ataxia with conditional < em > Fxn < /em > allele homozygosity delays onset of cardiomyopathy
Am J Physiol Heart Circ Physiol. 2023 Dec 1. doi: 10.1152/ajpheart.00496.2023. Online ahead of print.ABSTRACTFriedreich's ataxia (FA) is an autosomal recessive disorder caused by a deficiency in frataxin (FXN), a mitochondrial protein that plays a critical role in the synthesis of iron sulfur clusters (Fe-S), vital inorganic cofactors necessary for numerous cellular processes. FA is characterized by progressive ataxia and hypertrophic cardiomyopathy, with cardiac dysfunction as the most common cause of mortality in patients. Commonly used cardiac-specific mouse models of FA utilize the muscle creatine kinase (MCK) promoter...
Source: American Journal of Physiology. Heart and Circulatory Physiology - December 1, 2023 Category: Physiology Authors: Tyler L Perfitt Claudia Huichalaf Renea Gooch Anna Kuperman Youngwook Ahn Xian Chen Soumya Ullas Dinesh Hirenallur-Shanthappa Yutian Zhan Diana Otis Laurence O Whiteley Christine Bulawa Alain Martelli Source Type: research
