Cargando…

Interruptions of the FXN GAA Repeat Tract Delay the Age at Onset of Friedreich’s Ataxia in a Location Dependent Manner

Friedreich’s ataxia (FRDA) is a comparatively rare autosomal recessive neurological disorder primarily caused by the homozygous expansion of a GAA trinucleotide repeat in intron 1 of the FXN gene. The repeat expansion causes gene silencing that results in deficiency of the frataxin protein leading t...

Descripción completa

Detalles Bibliográficos
Autores principales:	Nethisinghe, Suran, Kesavan, Maheswaran, Ging, Heather, Labrum, Robyn, Polke, James M., Islam, Saiful, Garcia-Moreno, Hector, Callaghan, Martina F., Cavalcanti, Francesca, Pook, Mark A., Giunti, Paola
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2021
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8307455/ https://www.ncbi.nlm.nih.gov/pubmed/34299126 http://dx.doi.org/10.3390/ijms22147507

Ejemplares similares

Large Interruptions of GAA Repeat Expansion Mutations in Friedreich Ataxia Are Very Rare
por: Al-Mahdawi, Sahar, et al.
Publicado: (2018)

Hyperexpansion of GAA repeats affects post-initiation steps of FXN transcription in Friedreich’s ataxia
por: Kim, Eunah, et al.
Publicado: (2011)

FXN Promoter Silencing in the Humanized Mouse Model of Friedreich Ataxia
por: Chutake, Yogesh K., et al.
Publicado: (2015)

Epigenetic Heterogeneity in Friedreich Ataxia Underlies Variable FXN Reactivation
por: Rodden, Layne N., et al.
Publicado: (2021)

FXN gene methylation determines carrier status in Friedreich ataxia
por: Lam, Christina, et al.
Publicado: (2023)

Pharmacological Screening Using an FXN-EGFP Cellular Genomic Reporter Assay for the Therapy of Friedreich Ataxia
por: Li, Lingli, et al.
Publicado: (2013)

Friedreich's Ataxia Frequency in a Large Cohort of Genetically Undetermined Ataxia Patients
por: Brown, Alexander F., et al.
Publicado: (2021)

Friedreich Ataxia Patient Tissues Exhibit Increased 5-Hydroxymethylcytosine Modification and Decreased CTCF Binding at the FXN Locus
por: Al-Mahdawi, Sahar, et al.
Publicado: (2013)

Identification of a novel missense mutation in Friedreich's ataxia –FXN(W) (168R)
por: Clark, Elisia, et al.
Publicado: (2019)

Rescue of the Friedreich Ataxia Knockout Mutation in Transgenic Mice Containing an FXN-EGFP Genomic Reporter
por: Sarsero, Joseph P., et al.
Publicado: (2014)

Frataxin‐deficient neurons and mice models of Friedreich ataxia are improved by TAT‐MTScs‐FXN treatment
por: Britti, Elena, et al.
Publicado: (2017)

Hsp90 Inhibition: A Promising Therapeutic Approach for ARSACS
por: Nethisinghe, Suran, et al.
Publicado: (2021)

A wearable motion capture suit and machine learning predict disease progression in Friedreich’s ataxia
por: Kadirvelu, Balasundaram, et al.
Publicado: (2023)

PolyQ Tract Toxicity in SCA1 is Length Dependent in the Absence of CAG Repeat Interruption
por: Nethisinghe, Suran, et al.
Publicado: (2018)

A novel GAA-repeat-expansion-based mouse model of Friedreich’s ataxia
por: Anjomani Virmouni, Sara, et al.
Publicado: (2015)

Identification of telomere dysfunction in Friedreich ataxia
por: Anjomani Virmouni, Sara, et al.
Publicado: (2015)

Somatic instability of the expanded GAA repeats in Friedreich’s ataxia
por: Long, Ashlee, et al.
Publicado: (2017)

A Comprehensive Transcriptome Analysis Identifies FXN and BDNF as Novel Targets of miRNAs in Friedreich’s Ataxia Patients
por: Misiorek, Julia O., et al.
Publicado: (2020)

Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17
por: Nethisinghe, Suran, et al.
Publicado: (2018)

Genetic Variations Creating MicroRNA Target Sites in the FXN 3′-UTR Affect Frataxin Expression in Friedreich Ataxia
por: Bandiera, Simonetta, et al.
Publicado: (2013)

Effects of Friedreich's ataxia GAA repeats on DNA replication in mammalian cells
por: Chandok, Gurangad S., et al.
Publicado: (2012)

A new FRDA mouse model [Fxn(null):YG8s(GAA) > 800] with more than 800 GAA repeats
por: Kalef-Ezra, Ester, et al.
Publicado: (2023)

Long intronic GAA repeats causing Friedreich ataxia impede transcription elongation
por: Punga, Tanel, et al.
Publicado: (2010)

Replication-independent instability of Friedreich’s ataxia GAA repeats during chronological aging
por: Neil, Alexander J., et al.
Publicado: (2021)

Auditory Phenotypic Variability in Friedreich’s Ataxia Patients
por: Koohi, Nehzat, et al.
Publicado: (2021)

Novel intragenic deletion within the FXN gene in a patient with typical phenotype of Friedreich ataxia: may be more prevalent than we think?
por: Aguilera, Cinthia, et al.
Publicado: (2023)

Effects of Friedreich's ataxia (GAA)(n)·(TTC)(n) repeats on RNA synthesis and stability
por: Krasilnikova, Maria M., et al.
Publicado: (2007)

Epigenetic-based therapies for Friedreich ataxia
por: Sandi, Chiranjeevi, et al.
Publicado: (2014)

Plasma Markers of Neurodegeneration Are Raised in Friedreich’s Ataxia
por: Zeitlberger, Anna M., et al.
Publicado: (2018)

'Mitochondrial energy imbalance and lipid peroxidation cause cell death in Friedreich's ataxia'
por: Abeti, R, et al.
Publicado: (2016)

Friedreich's Ataxia
por: Anderson, J. Wallace
Publicado: (1893)

Epigenetics in Friedreich's Ataxia: Challenges and Opportunities for Therapy
por: Sandi, Chiranjeevi, et al.
Publicado: (2013)

Mice harboring the FXN I151F pathological point mutation present decreased frataxin levels, a Friedreich ataxia-like phenotype, and mitochondrial alterations
por: Medina-Carbonero, Marta, et al.
Publicado: (2022)

Calcium Deregulation: Novel Insights to Understand Friedreich’s Ataxia Pathophysiology
por: Abeti, Rosella, et al.
Publicado: (2018)

Prediction of the disease course in Friedreich ataxia
por: Hohenfeld, Christian, et al.
Publicado: (2022)

Onset features and time to diagnosis in Friedreich’s Ataxia
por: Indelicato, Elisabetta, et al.
Publicado: (2020)

The Pathology of Friedreich's Ataxia
por: Rainy, Harry
Publicado: (1905)

Neuroinflammation in Friedreich’s Ataxia
por: Apolloni, Savina, et al.
Publicado: (2022)

Friedreich's Ataxia (GAA)(n)•(TTC)(n) Repeats Strongly Stimulate Mitotic Crossovers in Saccharomyces cerevisae
por: Tang, Wei, et al.
Publicado: (2011)

Disruption of Higher Order DNA Structures in Friedreich’s Ataxia (GAA)(n) Repeats by PNA or LNA Targeting
por: Bergquist, Helen, et al.
Publicado: (2016)

Cannot write session to /tmp/vufind_sessions/sess_dsteqqoa4nealn6glqo8u5772d