Direct delivery of Cas9 or base editor protein and guide RNA complex enables genome editing in the retina

Autor: Juliette Pulman, Catherine Botto, Hugo Malki, Duohao Ren, Paul Oudin, Anne De Cian, Marie As, Charlotte Izabelle, Bruno Saubamea, Valerie Forster, Stéphane Fouquet, Camille Robert, Céline Portal, Aziz El-Amraoui, Sylvain Fisson, Jean-Paul Concordet, Deniz Dalkara

Publikováno v: Molecular Therapy: Nucleic Acids, Vol 35, Iss 4, Pp 102349- (2024)

Genome editing by CRISPR-Cas holds promise for the treatment of retinal dystrophies. For therapeutic gene editing, transient delivery of CRISPR-Cas9 is preferable to viral delivery which leads to long-term expression with potential adverse consequenc

Externí odkaz: https://doaj.org/article/79b809bb916648639568bb98681ed82b

Variants in the MIPEP gene presenting with complex neurological phenotype without cardiomyopathy, impair OXPHOS protein maturation and lead to a reduced OXPHOS abundance in patient cells

Autor: Agnès Rötig, Arnold Munnich, Metodi D. Metodiev, Juliette Pulman, Martin Horak, Giulia Barcia, Nathalie Boddaert, Benedetta Ruzzenente

Publikováno v: Molecular Genetics and Metabolism. 134:267-273

Most mitochondrial proteins are synthesized in the cytosol and targeted to mitochondria via N-terminal mitochondrial targeting signals (MTS) that are proteolytically removed upon import. Sometimes, MTS removal is followed by a cleavage of an octapept

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb4517529a3276a4722d46d9186064cc
https://doi.org/10.1016/j.ymgme.2021.09.005

Early and late stage gene therapy interventions for inherited retinal degenerations

Autor: José-Alain Sahel, Deniz Dalkara, Catherine Botto, Müge Defne Tekinsoy, Juliette Pulman, Marco Rucli

Publikováno v: Progress in Retinal and Eye Research
Progress in Retinal and Eye Research, Elsevier, 2021, pp.100975. ⟨10.1016/j.preteyeres.2021.100975⟩
Progress in Retinal and Eye Research, 2021, pp.100975. ⟨10.1016/j.preteyeres.2021.100975⟩

International audience; Inherited and age-related retinal degeneration is the hallmark of a large group of heterogeneous diseases and is the main cause of untreatable blindness today. Genetic factors play a major pathogenic role in retinal degenerati

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e20fb948f6f199265eca94cd8784e9a1
https://pubmed.ncbi.nlm.nih.gov/34058340

Mutations in the MRPS28 gene encoding the small mitoribosomal subunit protein bS1m in a patient with intrauterine growth retardation, craniofacial dysmorphism and multisystemic involvement

Autor: Nathalie Boddaert, Lucas Bianchi, Juliette Pulman, Arnold Munnich, Metodi D. Metodiev, Agnès Rötig, Marlène Rio, Benedetta Ruzzenente

Publikováno v: Human Molecular Genetics.

Mitochondria contain a dedicated translation system, which is responsible for the intramitochondrial synthesis of 13 mitochondrial DNA (mtDNA)-encoded polypeptides essential for the biogenesis of oxidative phosphorylation (OXPHOS) complexes I and III

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af0d0d42a362961b295c56312a40c807
https://doi.org/10.1093/hmg/ddy441