Human topoisomerases and their roles in genome stability and organization

Y Pommier, A Nussenzweig, S Takeda… - … Reviews Molecular Cell …, 2022 - nature.com
Human topoisomerases comprise a family of six enzymes: two type IB (TOP1 and
mitochondrial TOP1 (TOP1MT), two type IIA (TOP2A and TOP2B) and two type IA (TOP3A …

Untangling the roles of TOP2A and TOP2B in transcription and cancer

L Uusküla-Reimand, MD Wilson - Science advances, 2022 - science.org
Type II topoisomerases (TOP2) are conserved regulators of chromatin topology that catalyze
reversible DNA double-strand breaks (DSBs) and are essential for maintaining genomic …

New insights into the genetic etiology of Alzheimer's disease and related dementias

C Bellenguez, F Küçükali, IE Jansen, L Kleineidam… - Nature …, 2022 - nature.com
Abstract Characterization of the genetic landscape of Alzheimer's disease (AD) and related
dementias (ADD) provides a unique opportunity for a better understanding of the associated …

The molecular biology of FMRP: new insights into fragile X syndrome

JD Richter, X Zhao - Nature Reviews Neuroscience, 2021 - nature.com
Fragile X mental retardation protein (FMRP) is the product of the fragile X mental retardation
1 gene (FMR1), a gene that—when epigenetically inactivated by a triplet nucleotide repeat …

Activity-regulated transcription: bridging the gap between neural activity and behavior

EL Yap, ME Greenberg - Neuron, 2018 - cell.com
Gene transcription is the process by which the genetic codes of organisms are read and
interpreted as a set of instructions for cells to divide, differentiate, migrate, and mature. As …

Roles of eukaryotic topoisomerases in transcription, replication and genomic stability

Y Pommier, Y Sun, SN Huang, JL Nitiss - Nature reviews Molecular cell …, 2016 - nature.com
Topoisomerases introduce transient DNA breaks to relax supercoiled DNA, remove
catenanes and enable chromosome segregation. Human cells encode six topoisomerases …

Topoisomerases as anticancer targets

JL Delgado, CM Hsieh, NL Chan… - Biochemical Journal, 2018 - portlandpress.com
Many cancer type-specific anticancer agents have been developed and significant
advances have been made toward precision medicine in cancer treatment. However …

Recent ultra-rare inherited variants implicate new autism candidate risk genes

AB Wilfert, TN Turner, SC Murali, PH Hsieh… - Nature …, 2021 - nature.com
Autism is a highly heritable complex disorder in which de novo mutation (DNM) variation
contributes significantly to risk. Using whole-genome sequencing data from 3,474 families …

Born to run: control of transcription elongation by RNA polymerase II

FX Chen, ER Smith, A Shilatifard - Nature reviews Molecular cell …, 2018 - nature.com
The dynamic regulation of transcription elongation by RNA polymerase II (Pol II) is an
integral part of the implementation of gene expression programmes during development. In …

From the genetic architecture to synaptic plasticity in autism spectrum disorder

T Bourgeron - Nature Reviews Neuroscience, 2015 - nature.com
Genetics studies of autism spectrum disorder (ASD) have identified several risk genes that
are key regulators of synaptic plasticity. Indeed, many of the risk genes that have been …