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Sofia Carmen Suzanne Spataro

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Related publications (6)

Please note that this is not a complete list of this person’s publications. It includes only semantically relevant works. For a full list, please refer to Infoscience.

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Related publications (6)

Please note that this is not a complete list of this person’s publications. It includes only semantically relevant works. For a full list, please refer to Infoscience.

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

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

Anders Meibom, Graham Knott, Bernard Schneider, 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