Lucía Soletto

Functional assessment of inherited myeloid neoplasm‐associated SAMD9L germline variants via Monoallelic CRISPR modelling

Elena Vuelta, Alessandro Liquori, Matías Morin, Lucía Soletto et autres

While the majority of myeloid neoplasms are sporadic, the increasing application of germline genetic testing has led the World Health Organization to designate 'Myeloid malignancies with germline predisposition' as a distinct clinical entity, carrying major implications for clinical care and research. Germline …

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Safe and Efficacious Permanent Removal of Large COL7A1 Exons for Gene Reframing as a Reliable Therapeutic Strategy for Recessive Dystrophic Epidermolysis Bullosa

Sergio López-Manzaneda, José Bonafont, Alex Bassons-Bascuñana, Marta García et autres

Mutations leading to premature termination codons in COL7A1 are commonly associated with severe generalized recessive dystrophic epidermolysis bullosa (RDEB). Previous research, including our own, has indicated that removing mutated COL7A1 exons along with the consequent reframing of COL7A1 may not pose noticeable …

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Evolution of CRISPR-associated endonucleases as inferred from resurrected proteins

Borja Alonso-Lerma, Ylenia Jabalera, Sara Samperio, Matías Morin et autres

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Pathogenic variants of the coenzyme A biosynthesis‐associated enzyme phosphopantothenoylcysteine decarboxylase cause autosomal‐recessive dilated cardiomyopathy

Irene Bravo‐Alonso, Matías Morin, Laura Arribas‐Carreira, Mar Álvarez et autres

Coenzyme A (CoA) is an essential cofactor involved in a range of metabolic pathways including the activation of long-chain fatty acids for catabolism. Cells synthesize CoA de novo from vitamin B5 (pantothenate) via a pathway strongly conserved across prokaryotes and eukaryotes. In …

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Evolution of CRISPR-associated Endonucleases as Inferred from Resurrected Proteins

Borja Alonso-Lerma, Ylenia Jabalera, Matías Morin, Almudena Ávila Fernández et autres

Abstract Clustered regularly interspaced short palindromic repeats (CRISPR)-associated Cas9 protein is an effector that plays a major role in a prokaryotic adaptive immune system, by which invading DNA can be targeted and cut for inactivation. The Cas9 endonuclease is directed to target …

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Brain transcriptome profile after CRISPR-induced ghrelin mutations in zebrafish

Ayelén Melisa Blanco, Raúl Arrieta Cortés, Juan Ignacio Bertucci, Lucía Soletto et autres

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Signal Transduction and Pathogenic Modifications at the Melanocortin-4 Receptor: A Structural Perspective

Nicolas Heyder, Gunnar Kleinau, Michal Szczepek, Dennis Kwiatkowski et autres

The melanocortin-4 receptor (MC4R) can be endogenously activated by binding of melanocyte-stimulating hormones (MSH), which mediates anorexigenic effects. In contrast, the agouti-related peptide (AgRP) acts as an endogenous inverse agonist and suppresses ligand-independent basal signaling activity (orexigenic effects). Binding of ligands to …

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Melanocortin Receptor Accessory Protein 2-Induced Adrenocorticotropic Hormone Response of Human Melanocortin 4 Receptor

Lucía Soletto, Sergio Hernández-Balfagó, Ana Rocha, Patrick Scheerer et autres

Melanocortin 4 receptor (MC4R), a canonical melanocyte-stimulating hormone receptor, is the main responsible for monogenic obesity in humans. Previous studies in fish and avian species showed that MC4R becomes an ACTH receptor after interaction with the melanocortin receptor accessory protein 2 (MRAP2). …

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Data for Repository.xlsx

Lucía Soletto, Sergio Hernández-Balfagó, Ana Rocha, Patrick Scheerer et autres

Pharmacological data on human (h) and zebrafish (zf) MC4R activation transfected alone or in combination with hMRAP2, zfMRAP2a or zfMRAP2b in HEK293 stimulated with graded doses of ACTH and a-MSH. Data are expressed as percentage of the basal values (Non-stimulated cells).

Melanocortins : A "multitask" hormonal system in fish

Lucía Soletto, S. Puchol Enguídanos, Sandra Navarro, Raúl Arrieta Cortés et autres

Trabajo presentado en el 11º Congreso de la Asociación Ibérica de Endocrinología Comparada (AIEC), celebrado en Vigo (España), del 13 al 15 de julio de 2017

Molecular basis of MRAP2a-induced MC4R sensitivity to adrenocorticotropic hormone (ACTH)

Lucía Soletto, Ana Rocha dos Santos, Elisa Sánchez Martínez, Jose Miguel Cerda Reverter

Trabajo presentado en el 11º Congreso de la Asociación Ibérica de Endocrinología Comparada (AIEC), celebrado en Vigo (España), del 13 al 15 de julio de 2017

Sex-induced differences in the circadian system of zebrafish

Lucía Soletto, Li Zhao, Daniela Vallone, Nicholas Simon Foulkes et autres

Trabajo presentado en el 11º Congreso de la Asociación Ibérica de Endocrinología Comparada (AIEC), celebrado en Vigo (España), del 13 al 15 de julio de 2017