Publications related to Allele-specific gene disruption through discrimination of a single base change by S. aureus Cas9-KKH prevents progressive hearing loss after AAV-mediated gene delivery

Related publications (16)

Towards a physical understanding of developmental patterning

The temporal coordination of events at cellular and tissue scales is essential for the proper development of organisms, and involves cell-intrinsic processes that can be coupled by local cellular signalling and instructed by global signalling, thereby crea ...

NATURE RESEARCH2021

Mouse Systems Genetics as a Prelude to Precision Medicine

Johan Auwerx, Hao Li

Mouse models have been instrumental in understanding human disease biology and proposing possible new treatments. The precise control of the environment and genetic composition of mice allows more rigorous observations, but limits the generalizability and ...

2020

cis-regulatory variation modulates susceptibility to enteric infection in the Drosophila genetic reference panel

Bart Deplancke, Maroun Bou Sleiman, Vincent Roland Julien Gardeux, Riccardo Dainese, Maria Litovchenko, Michael Vincent Frochaux, Dani Osman, Brian Dennis Hollis, Virginie Sandra Braman

Background: Resistance to enteric pathogens is a complex trait at the crossroads of multiple biological processes. We have previously shown in the Drosophila Genetic Reference Panel (DGRP) that resistance to infection is highly heritable, but our understan ...

2020

On the prediction of DNA-binding preferences of C2H2-ZF domains using structural models: application on human CTCF

Jaume Bonet Martinez

Cis2-His2 zinc finger (C2H2-ZF) proteins are the largest family of transcription factors in human and higher metazoans. To date, the DNA-binding preferences of many members of this family remain unknown. We have developed a computational method to predict ...

OXFORD UNIV PRESS2020

Delivery of CRISPR/Cas9 using AAV-PHP.B in the inner ear leads to allele-specific inactivation of the mutated Tmc1 allele and protects auditory function in Beethoven mice

Bernard Schneider, Paola Andrea Solanes Vega, Sofia Carmen Suzanne Spataro

Hearing Loss (HL) is the most prevalent sensorineural disorder, affecting 360 million people worldwide. As genetic causes lead to 50% of pre-lingual deafness, gene therapy is considered as a potential therapeutic strategy. Mutations in the TMC1 gene are li ...

MARY ANN LIEBERT, INC2019

Rare variants in antiviral response genes drive severe viral respiratory infections in children

Jacques Fellay, Dylan Lawless, Samira Asgari

NATURE PUBLISHING GROUP2019

Genome-to-genome analysis of Epstein-Barr virus infection

Jacques Fellay, Christian Hammer

NATURE PUBLISHING GROUP2019

Mutation update: TGFBI pathogenic and likely pathogenic variants in corneal dystrophies

Daniel Francis Schorderet

Human transforming growth factor beta-induced (TGFBI), is a gene responsible for various corneal dystrophies. TGFBI produces a protein called TGFBI, which is involved in cell adhesion and serves as a recognition sequence for integrins. An alteration in cel ...

2019

Scalable Production of AAV Vectors in Orbitally Shaken HEK293 Cells

Vivianne Padrun, Florian Maria Wurm, Bernard Schneider, Nicole Déglon

Adeno-associated virus (AAV) vectors are currently among the most commonly applied for in vivo gene therapy approaches. The evaluation of vectors during clinical development requires the production of considerable amounts of highly pure and potent vectors. ...

2019

Role of OCT4 in establishing and maintaining chromatin architecture during stem cell self-renewal

David Michael Suter, Subashika Govindan

MARY ANN LIEBERT, INC2018

Retroelements, their polydactyl controllers and the specificity of human biology

Didier Trono

MARY ANN LIEBERT, INC2018

Do RET somatic mutations play a role in Hirschsprung disease? Response

Denis Duboule

NATURE PUBLISHING GROUP2018

Direct and Retrograde Transduction of Nigral Neurons with AAV6, 8, and 9 and Intraneuronal Persistence of Viral Particles

Patrick Aebischer, Bernard Schneider

Recombinant adeno-associated viral (AAV) vectors of serotypes 6, 8, and 9 were characterized as tools for gene delivery to dopaminergic neurons in the substantia nigra for future gene therapeutic applications in Parkinson's disease. While vectors of all th ...

Mary Ann Liebert2013

High-titer, serum-free production of adeno-associated virus vectors by polyethyleneimine-mediated plasmid transfection in mammalian suspension cells

Florian Maria Wurm, Lucia Baldi Unser, Mathieu Benjamin Stettler

Adeno-associated virus (AAV)-based vectors belong to the most promising gene transfer vectors in clinical studies. To provide vector for late-stage clinical trials as well as for a potential commercial phase, a scalable, cGMP-compliant process is required. ...

Springer, Springer Netherlands2007

Viral vector-mediated gene therapy for Parkinson's disease

Patrick Aebischer, Nicole Déglon

Parkinson's disease (PD) is a progressive neurodegenerative disorder that affects 1% of the population above the age of 60. The cause of the disease remains unknown. The histopathological hallmarks of the disease are intracytoplasmic Lewy bodies and dopami ...

2001

Increased motoneuron survival and improved neuromuscular function in transgenic ALS mice after intraspinal injection of an adeno-associated virus encoding Bcl-2

Patrick Aebischer

Mutations in the gene encoding Cu/Zn superoxide dismutase (SOD1) underlie some familial cases of amyotrophic lateral sclerosis (ALS), a neurodegenerative disorder characterized by loss of cortical, brainstem and spinal motoneurons. Transgenic mice over- ex ...

Oxford University Press2000