CRISPR-Cas9-mediated homology-directed repair for precise gene editing

H Liao, J Wu, NJ VanDusen, Y Li, Y Zheng - Molecular Therapy Nucleic …, 2024 - cell.com
CRISPR-Cas9-mediated homology-directed repair (HDR) is a versatile platform for creating
precise site-specific DNA insertions, deletions, and substitutions. These precise edits are …

Loss of a mammalian circular RNA locus causes miRNA deregulation and affects brain function

M Piwecka, P Glažar, LR Hernandez-Miranda… - Science, 2017 - science.org
INTRODUCTION Recently, a special class of RNAs has excited researchers and triggered
hundreds of now-published studies. Known as circular RNAs (circRNAs), these RNAs are …

Generating genetically modified mice using CRISPR/Cas-mediated genome engineering

H Yang, H Wang, R Jaenisch - Nature protocols, 2014 - nature.com
Mice with specific gene modifications are valuable tools for studying development and
disease. Traditional gene targeting in mice using embryonic stem (ES) cells, although …

[HTML][HTML] Dendritic function of tau mediates amyloid-β toxicity in Alzheimer's disease mouse models

LM Ittner, YD Ke, F Delerue, M Bi, A Gladbach… - Cell, 2010 - cell.com
Alzheimer's disease (AD) is characterized by amyloid-β (Aβ) and tau deposition in brain. It
has emerged that Aβ toxicity is tau dependent, although mechanistically this link remains …

Efficient generation of Rosa26 knock-in mice using CRISPR/Cas9 in C57BL/6 zygotes

VT Chu, T Weber, R Graf, T Sommermann, K Petsch… - BMC …, 2016 - Springer
Abstract Background The CRISPR/Cas9 system is increasingly used for gene inactivation in
mouse zygotes, but homology-directed mutagenesis and use of inbred embryos are less …

Ubiquitination-deficient mutations in human Piwi cause male infertility by impairing histone-to-protamine exchange during spermiogenesis

LT Gou, JY Kang, P Dai, X Wang, F Li, S Zhao… - Cell, 2017 - cell.com
Genetic studies have elucidated critical roles of Piwi proteins in germline development in
animals, but whether Piwi is an actual disease gene in human infertility remains unknown …

[HTML][HTML] Animal models reveal role for tau phosphorylation in human disease

J Götz, A Gladbach, L Pennanen, J van Eersel… - … et Biophysica Acta (BBA …, 2010 - Elsevier
Many proteins that are implicated in human disease are posttranslationally modified. This
includes the microtubule-associated protein tau that is deposited in a hyperphosphorylated …

Site-specific phosphorylation of tau inhibits amyloid-β toxicity in Alzheimer's mice

A Ittner, SW Chua, J Bertz, A Volkerling… - Science, 2016 - science.org
Amyloid-β (Aβ) toxicity in Alzheimer's disease (AD) is considered to be mediated by
phosphorylated tau protein. In contrast, we found that, at least in early disease, site-specific …

Mutations in disordered regions can cause disease by creating dileucine motifs

K Meyer, M Kirchner, B Uyar, JY Cheng, G Russo… - Cell, 2018 - cell.com
Many disease-causing missense mutations affect intrinsically disordered regions (IDRs) of
proteins, but the molecular mechanism of their pathogenicity is enigmatic. Here, we employ …

Parkinsonism and impaired axonal transport in a mouse model of frontotemporal dementia

LM Ittner, T Fath, YD Ke, M Bi… - Proceedings of the …, 2008 - National Acad Sciences
Frontotemporal dementia (FTD) is characterized by cognitive and behavioral changes and,
in a significant subset of patients, Parkinsonism. Histopathologically, FTD frequently …