The tubulin code, from molecules to health and disease

ED McKenna, SL Sarbanes… - Annual review of cell …, 2023 - annualreviews.org
Microtubules are essential dynamic polymers composed of α/β-tubulin heterodimers. They
support intracellular trafficking, cell division, cellular motility, and other essential cellular …

Tubulin post-translational modifications: the elusive roles of acetylation

B Carmona, HS Marinho, CL Matos, S Nolasco… - Biology, 2023 - mdpi.com
Simple Summary Microtubules (MTs) are dynamic structures that compose part of the cell
cytoskeleton. They play important roles in various cellular functions, such as intracellular …

SETD2: from chromatin modifier to multipronged regulator of the genome and beyond

TM Molenaar, F van Leeuwen - Cellular and Molecular Life Sciences, 2022 - Springer
Histone modifying enzymes play critical roles in many key cellular processes and are
appealing proteins for targeting by small molecules in disease. However, while the functions …

Pleiotropy of autism-associated chromatin regulators

M Lasser, N Sun, Y Xu, S Wang, S Drake… - …, 2023 - journals.biologists.com
Gene ontology analyses of high-confidence autism spectrum disorder (ASD) risk genes
highlight chromatin regulation and synaptic function as major contributors to pathobiology …

SETD2 deficiency in peripheral sensory neurons induces allodynia by promoting NMDA receptor expression through NFAT5 in rodent models

G Chen, P Gu, W Wu, Y Yin, L Pan, S Huang… - International Journal of …, 2024 - Elsevier
Histone methylations play a crucial role in the development of neuropathic pain, and SET
domain containing 2 (SETD2), a histone methyltransferase, serves as the sole tri-methylase …

The role of histone methyltransferases in neurocognitive disorders associated with brain size abnormalities

FD Ritchie, SB Lizarraga - Frontiers in Neuroscience, 2023 - frontiersin.org
Brain size is controlled by several factors during neuronal development, including neural
progenitor proliferation, neuronal arborization, gliogenesis, cell death, and synaptogenesis …

Cellular and molecular functions of SETD2 in the central nervous system

B Mitchell, S Thor, M Piper - Journal of Cell Science, 2023 - journals.biologists.com
The covalent modification of histones is critical for many biological functions in mammals,
including gene regulation and chromatin structure. Posttranslational histone modifications …

Molecular mechanisms in governing genomic stability and tumor suppression by the SETD2 H3K36 methyltransferase

UTF Lam, ES Chen - The International Journal of Biochemistry & Cell …, 2022 - Elsevier
Epigenetic dysregulation is an important contributor to carcinogenesis. This is not surprising,
as chromatin—genomic DNA organized around structural histone scaffolding—serves as the …

[HTML][HTML] Clinical and genetic features of luscan-lumish syndrome associated with a novel de novo variant of SETD2 gene: Case report and literature review

Y Zhang, H Zhang, W Wu, D Wang, Y Lv, D Zhao… - Frontiers in …, 2023 - frontiersin.org
Introduction: Luscan-Lumish syndrome (LLS) is currently recognized as a rarely-observed
condition featured with overgrowth, macrocephaly, obesity, type I Chiari malformation, and …

PPP2R5E: New gene potentially involved in specific learning disorders and myopathy

A Musumeci, M Vinci, I Verbinnen, S Treccarichi… - Gene, 2025 - Elsevier
Abstract Protein phosphatase 2A (PP2A) is a family of multifunctional enzymatic complexes
crucial for cellular signalling, playing a pivotal role in brain function and development …