Mechanisms of DNA damage‐mediated neurotoxicity in neurodegenerative disease

G Welch, LH Tsai - EMBO reports, 2022 - embopress.org
Neurons are highly susceptible to DNA damage accumulation due to their large energy
requirements, elevated transcriptional activity, and long lifespan. While newer research has …

Daily oscillations of neuronal membrane capacitance

D Severin, C Moreno, T Tran, C Wesselborg, S Shirley… - Cell reports, 2024 - cell.com
Capacitance of biological membranes is determined by the properties of the lipid portion of
the membrane as well as the morphological features of a cell. In neurons, membrane …

AT neurodegeneration and DNA damage-induced transcriptional stress

TT Paull, PR Woolley - DNA repair, 2024 - Elsevier
Loss of the ATM protein kinase in humans results in Ataxia-telangiectasia, a disorder
characterized by childhood-onset neurodegeneration of the cerebellum as well as cancer …

Can accelerated ageing models inform us on age‐related tauopathies?

ZZ Han, A Fleet, D Larrieu - Aging Cell, 2023 - Wiley Online Library
Ageing is the greatest risk factor of late‐onset neurodegenerative diseases. In the realm of
sporadic tauopathies, modelling the process of biological ageing in experimental animals …

Vulnerability of human cerebellar neurons to degeneration in ataxia-causing channelopathies

DD Bushart, VG Shakkottai - Frontiers in Systems Neuroscience, 2022 - frontiersin.org
Mutations in ion channel genes underlie a number of human neurological diseases.
Historically, human mutations in ion channel genes, the so-called channelopathies, have …

Toward a cerebello-thalamo-cortical computational model of spinocerebellar ataxia

G Kumar, CHE Ma - Neural Networks, 2023 - Elsevier
Computational neural network modelling is an emerging approach for optimization of drug
treatment of neurological disorders and fine-tuning of rehabilitation strategies. In the current …

Nonsense mutations in eukaryotes

NA Potapova - Biochemistry (Moscow), 2022 - Springer
Nonsense mutations are a type of mutations which results in a premature termination codon
occurrence. In general, these mutations have been considered to be among the most …

Disproportionate Expression of ATM in Cerebellar Cortex During Human Neurodevelopment

S Deacon, W Dalleywater, C Peat, SML Paine… - The Cerebellum, 2024 - Springer
Cerebellar neurodegeneration is a classical feature of ataxia telangiectasia (AT), an
autosomal recessive condition caused by loss-of-function mutation of the ATM gene, a gene …

Genome-Wide Screening in Human Embryonic Stem Cells Highlights the Hippo Signaling Pathway as Granting Synthetic Viability in ATM Deficiency

R Viner-Breuer, T Golan-Lev, N Benvenisty… - Cells, 2023 - mdpi.com
ATM depletion is associated with the multisystemic neurodegenerative syndrome ataxia–
telangiectasia (A–T). The exact linkage between neurodegeneration and ATM deficiency …