Publications de Sofia Carmen Suzanne Spataro

Stable isotope labeling and ultra-high-resolution NanoSIMS imaging reveal alpha-synuclein-induced changes in neuronal metabolism in vivo

Anders Meibom, Bernard Schneider, Graham Knott, Stéphane Laurent Escrig, Louise Helene Soegaard Jensen, Bohumil Maco, Sofia Carmen Suzanne Spataro

In Parkinson's disease, pathogenic factors such as the intraneuronal accumulation of the protein alpha-synuclein affect key metabolic processes. New approaches are required to understand how metabolic dysregulations cause degeneration of vulnerable subtype ...

2023

Single and Dual Vector Gene Therapy with AAV9-PHP.B Rescues Hearing in Tmc1 Mutant Mice

Paola Andrea Solanes Vega, Sofia Carmen Suzanne Spataro

AAV-mediated gene therapy is a promising approach for treating genetic hearing loss. Replacement or editing of the Tmc1 gene, encoding hair cell mechanosensory ion channels, is effective for hearing restoration in mice with some limitations. Efficient resc ...

CELL PRESS2021

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

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

MARY ANN LIEBERT, INC2019

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

Allele-specific gene editing prevents deafness in a model of dominant progressive hearing loss

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

Since most dominant human mutations are single nucleotide substitutions(1,2), we explored gene editing strategies to disrupt dominant mutations efficiently and selectively without affecting wild-type alleles. However, single nucleotide discrimination can b ...

NATURE PUBLISHING GROUP2019

Study of chi(cJ) decaying into phi K*(892)(K)over-bar

Qian Wang, Xin Chen, Jiannong Fang, Mingkui Wang, Zhirui Xu, Yi Zhang, Lei Zhang, Yixing Chen, Hua Zhang, Siyuan Wang

Using a data sample of 106 million psi(3686) events collected with the BESIII detector operated at the BEPCII storage ring, we study for the first time the decays chi(cJ) -> phi(KSK +/-)-K-0 pi(-/+) and chi(cJ) -> phi K+K-pi(0) in the E1 radiative transiti ...

American Physical Society2015