Related Experiment Video
Updated: Aug 30, 2025

Author Spotlight: Deciphering the Role of ATM in Ataxia-Telangiectasia and the Associated Cerebellar Degeneration
Published on: December 27, 2024
Ataxia-telangiectasia mutated plays an important role in cerebellar integrity and functionality
Yulia Mitiagin1, Ari Barzilai2
1Department of Neurobiology, the School of Neurobiology, Biophysics, Molecular Biology and Biochemistry, George S. Wise, Faculty of Life Sciences, Tel Aviv University, Tel Aviv, Israel.
Abstract:
Accumulating evidence indicates that ataxia-telangiectasia mutated kinase is critical for maintaining cellular homeostasis and that it has both nuclear and cytoplasmic functions. However, the functions of ataxia-telangiectasia mutated that when lost lead to cerebellar degeneration are still unknown. In this review, we first describe the role of ataxia-telangiectasia mutated in cerebellar pathology. In addition to its canonical nuclear functions in DNA damage response circuits, ataxia-telangiectasia mutated functions in various cytoplasmic and mitochondrial processes that are critically important for cellular homeostasis. We discuss these functions with a focus on the role of ataxia-telangiectasia mutated in maintaining the homeostatic redox state. Finally, we describe the unique functions of ataxia-telangiectasia mutated in various types of neuronal and glial cells including cerebellar granule neurons, astrocytes, and microglial cells.
Related Concept Videos
DNA Damage can Stall the Cell Cycle
Allosteric Proteins-ATCase
Aspartate transcarbamoylase (ATCase) is a cytosolic enzyme that catalyzes the condensation of L-aspartate and carbamoyl phosphate to N-carbamoyl-L-aspartate. This reaction is the first step in pyrimidine biosynthesis. UTP and CTP, the end products of the pyrimidine synthesis...
ATP Synthase: Mechanism
Cerebellum: Anatomical Regions
Cerebellar Structure
Externally, the cerebellum features a highly convoluted surface with numerous folia (narrow ridges) separated by shallow sulci (grooves). The cerebellum is divided into two hemispheres by a thin median structure known as the vermis. The...
Notch Signaling Pathway
The Notch gene came into the limelight in 1914 after the discovery that its mutation in Drosophila melanogaster leads to a serrated (or "notched") wing margin phenotype. It was not...
Role of Cerebellum and Prefrontal Cortex in Memory

