Martina Sofia

Telethon Institute Of Genetics And Medicine — Italy

Biochemistry, Genetics and Molecular Biology · Life Sciences

4h-index103citations16works0.02yr avg
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Research Topics

Retinal Development and Disorders(7), CRISPR and Genetic Engineering(5), Photoreceptor and optogenetics research(5), Genomics and Chromatin Dynamics(4), bioluminescence and chemiluminescence research(3)

Publications16 total

<i>De novo</i> Golgi biogenesis requires coordinated transactivation of a Golgi regulon
2025Open Access
A DNA base-specific sequence interposed between CRX and NRL contributes to RHODOPSIN expression
Scientific Reports·2024Open Access
A DNA base-specific sequence interposed between CRX and NRL contributes to RHODOPSIN expression.
2023Open Access
New mouse models with hypomorphic <i>SUMF1</i> variants mimic attenuated forms of multiple sulfatase deficiency
Journal of Inherited Metabolic Disease·2022· 8 citedOpen Access
Fluoxetine ameliorates mucopolysaccharidosis type IIIA
Molecular Therapy·2022· 27 citedOpen Access
Modulating transcription factor spatial pattern to generate gene-targeted therapeutics
Investigative Ophthalmology & Visual Science·2018Open Access
WITHDRAWN - Transcriptional landscape of porcine rod and cone photoreceptors
Investigative Ophthalmology & Visual Science·2018Open Access
RHODOPSIN transcriptional silencing & replacement for the treatment of autosomal dominant Retinitis Pigmentosa
Investigative Ophthalmology & Visual Science·2018Open Access
Targeting and silencing of rhodopsin by ectopic expression of the transcription factor KLF15
JCI Insight·2017· 22 citedOpen Access
Gene-targeted transcriptional silencing by DNA-binding
Investigative Ophthalmology & Visual Science·2016Open Access
Transcriptional blueprints of rod and cones
Investigative Ophthalmology & Visual Science·2016Open Access
736. Silencing Substituting the RHODODPSIN Gene to Treat Blinding Disorders
Molecular Therapy·2016Open Access
320. Transcriptional Silencing via Synthetic DNA Binding Protein Lacking Canonical Repressor Domains as a Potent Tool to Generate Therapeutics
Molecular Therapy·2016Open Access
Rhodopsin targeted transcriptional silencing by DNA-binding
eLife·2016· 46 citedOpen Access
Author response: Rhodopsin targeted transcriptional silencing by DNA-binding
2016Open Access
484. Preclinical Proof of Concept of Transcriptional Silencing and Replacement Strategy for Treatment of Retinitis Pigmentosa Due To RHODOPSIN Mutations
Molecular Therapy·2015Open Access

Frequent Co-authors

Salvatore Botta(13), Elena Marrocco(13), Enrico Maria Surace(13), Nicola de Prisco(11), Settimio Rossi(11), Francesca Simonelli(11), Maria Laura Bacci(10), Carlo Gesualdo(10), Mario Renda(9), Mariangela Lupo(9), Fabiola Curion(8), Annamaria Carissimo(3), Nicolina Cristina Sorrentino(3), Vincenzo Cacace(2), Elena Polishchuk(2), Rosa Maritato(2), Alessia Medugno(2), Emanuela D’Andretta(2), Giulia De Riso(2), Claudio Mussolino(2)