Generation and characterization of two human iPSC lines, IGIBi014-A and IGIBi015-A, from Friedreich's ataxia (FRDA) patients with pathogenic (GAA/TTC)n repeat expansion in first intron of the Frataxin (FXN) gene
Stem Cell Res. 2023 Dec 16;74:103289. doi: 10.1016/j.scr.2023.103289. Online ahead of print.ABSTRACTFriedreich's ataxia (FRDA) is a rare neurodegenerativedisorder caused by over expansion of GAA repeats in thefirstintron ofFXN gene. Here, we generated two iPSC lines from FRDA patients with biallelic expansion of GAA repeats in the first intron ofFXNgene.IGIBi014-A and IGIBi015-Aboth iPSC lines demonstrated characteristics of pluripotency, normal karyotypes (46, XY),the capacity to differentiate into all three germ layers, and the ability to sustain the GAA repeat expansion with decreased FXN mRNA expression. These cell lin...
Source: Cell Research - December 23, 2023 Category: Cytology Authors: Istaq Ahmad Himanshi Kapoor Achal Kumar Srivastava Mohammed Faruq Source Type: research
Generation and characterization of two human iPSC lines, IGIBi014-A and IGIBi015-A, from Friedreich's ataxia (FRDA) patients with pathogenic (GAA/TTC)n repeat expansion in first intron of the Frataxin (FXN) gene
Stem Cell Res. 2023 Dec 16;74:103289. doi: 10.1016/j.scr.2023.103289. Online ahead of print.ABSTRACTFriedreich's ataxia (FRDA) is a rare neurodegenerativedisorder caused by over expansion of GAA repeats in thefirstintron ofFXN gene. Here, we generated two iPSC lines from FRDA patients with biallelic expansion of GAA repeats in the first intron ofFXNgene.IGIBi014-A and IGIBi015-Aboth iPSC lines demonstrated characteristics of pluripotency, normal karyotypes (46, XY),the capacity to differentiate into all three germ layers, and the ability to sustain the GAA repeat expansion with decreased FXN mRNA expression. These cell lin...
Source: Cell Research - December 23, 2023 Category: Cytology Authors: Istaq Ahmad Himanshi Kapoor Achal Kumar Srivastava Mohammed Faruq 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
