[HTML][HTML] The hallmarks of aging in Ataxia-Telangiectasia

J Aguado, C Gómez-Inclán, HC Leeson… - Ageing Research …, 2022 - Elsevier
Ataxia-telangiectasia (AT) is caused by absence of the catalytic activity of ATM, a protein
kinase that plays a central role in the DNA damage response, many branches of cellular …

Ataxia-telangiectasia clinical trial landscape and the obstacles to overcome

K Kuhn, HM Lederman… - Expert Opinion on …, 2023 - Taylor & Francis
Introduction Ataxia telangiectasia (AT) is a life-limiting autosomal recessive disease
characterized by cerebellar degeneration, ocular telangiectasias, and sinopulmonary …

[HTML][HTML] In Cerebellar Atrophy of 12-Month-Old ATM-Null Mice, Transcriptome Upregulations Concern Most Neurotransmission and Neuropeptide Pathways, While …

M Reichlmeir, J Canet-Pons, G Koepf, W Nurieva… - Cells, 2023 - mdpi.com
The autosomal recessive disorder Ataxia-Telangiectasia is caused by a dysfunction of the
stress response protein, ATM. In the nucleus of proliferating cells, ATM senses DNA double …

[HTML][HTML] Metabolic stress and mitochondrial dysfunction in ataxia-telangiectasia

GN Subramanian, AJ Yeo, MH Gatei, DJ Coman… - Antioxidants, 2022 - mdpi.com
The ataxia-telangiectasia mutated (ATM) protein kinase is, as the name implies, mutated in
the human genetic disorder ataxia-telangiectasia (AT). This protein has its “finger in many …

[HTML][HTML] Modulation of ER-mitochondria tethering complex VAPB-PTPIP51: Novel therapeutic targets for aging-associated diseases

T Jiang, N Ruan, P Luo, Q Wang, X Wei, Y Li… - Ageing Research …, 2024 - Elsevier
Aging is a gradual and irreversible natural process. With aging, the body experiences a
functional decline, and the effects amplify the vulnerability to a range of age-related …

[HTML][HTML] Ataxia Telangiectasia patient-derived neuronal and brain organoid models reveal mitochondrial dysfunction and oxidative stress

HC Leeson, J Aguado, C Gómez-Inclán… - Neurobiology of …, 2024 - Elsevier
Ataxia Telangiectasia (AT) is a rare disorder caused by mutations in the ATM gene and
results in progressive neurodegeneration for reasons that remain poorly understood. In …

The importance of synthetic pharmacotherapy for recessive cerebellar ataxias

M Beaudin, N Dupre, M Manto - Expert Review of …, 2024 - Taylor & Francis
Introduction The last decade has witnessed major breakthroughs in identifying novel genetic
causes of hereditary ataxias, deepening our understanding of disease mechanisms, and …

What's Changed in 75 Years of RadRes?–An Australian Perspective on Selected Topics

OA Martin, PJ Sykes, M Lavin, E Engels… - Radiation …, 2024 - meridian.allenpress.com
Several scientific themes are reviewed in the context of the 75-year period relevant to this
special platinum issue of Radiation Research. Two criteria have been considered in …