Carmen‐Lisset Flores

Mice deficient for the OI-gene Kdelr2 display skeletal defects and ER stress attenuable by ascorbic acid

Juan A. Jiménez‐Estrada, Carmen‐Lisset Flores, Almudena Fernández, Asier Iturrate et autres

Abstract KDELR2 encodes a cis-Golgi membrane receptor that functions recycling endoplasmic reticulum (ER) proteins bearing a C-terminal KDEL-like sequence. Pathogenic variants in this gene have previously been associated with osteogenesis imperfecta (OI). Herein, we studied the phenotype of Kdelr2 -knockout mice both …

es, de (code pays fourni par la source)

Personalized Risk Stratification in Colon Cancer using RadiomicBased Predictive Models

Manuel Collado, María Encarnación Castillo, Mª Jesús Larriba, Cristina Galindo-Pumariño et autres

es (code pays fourni par la source)

Synergistic regulatory mechanisms in glycolysis revealed by pathway transplantation

Ewout Knibbe, Francine J. Boonekamp, Rachel Stuij, Philipp Savakis et autres

ABSTRACT Protein allostery, present in all three domains of life, is key to the regulation of metabolism by allowing fast and precise control of catalysis in response to cellular demands. While metabolic pathways are frequently equipped with multiple allosterically regulated catalytic steps, …

nl, es (code pays fourni par la source)

Personalized Risk Stratification in Colon Cancer using Radiomic-Based Predictive Models

Manuel Collado, María Jesús Larriba, Cristina Galindo-Pumariño, Carmen‐Lisset Flores et autres

ABSTRACT Colon Cancer (CC) is among the most frequently diagnosed malignancies and a leading cause of cancer-related death worldwide. Five-year survival varies markedly by stage at diagnosis, underscoring the need for precise risk stratification. Otherwise, although stage III CC patients routinely receive …

es (code pays fourni par la source)

Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis

Umut Altunoğlu, Adrián Palencia‐Campos, Nilay Güneş, Gözde Tutku Turgut et autres

Background Ellis-van Creveld syndrome (EvC) is a recessive disorder characterised by acromesomelic limb shortening, postaxial polydactyly, nail-teeth dysplasia and congenital cardiac defects, primarily caused by pathogenic variants in EVC or EVC2. Weyers acrofacial dysostosis (WAD) is an ultra-rare dominant condition allelic to …

tr, es, Égypte, mx, dk, lt, Tunisie (code pays fourni par la source)

Mutations in SCNM1 cause orofaciodigital syndrome due to minor intron splicing defects affecting primary cilia

Asier Iturrate, Ana Rivera‐Barahona, Carmen‐Lisset Flores, Ghada A. Otaify et autres

es, Égypte, it, tr (code pays fourni par la source)

The N-Acetylglucosamine Kinase from Yarrowia lipolytica Is a Moonlighting Protein

Carmen‐Lisset Flores, Joaquı́n Ariño, Carlos Gancedo

In Yarrowia lipolytica, expression of the genes encoding the enzymes of the N-acetylglucosamine (NAGA) utilization pathway (NAG genes) becomes independent of the presence of NAGA in a Ylnag5 mutant lacking NAGA kinase. We addressed the question of whether the altered transcription was …

es (code pays fourni par la source)

Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2

Fleur S van Dijk, Oliver Semler, Julia Etich, Anna M. Köhler et autres

nl, gb, de, es, se (code pays fourni par la source)

Las enzimas limpiadoras

Carmen‐Lisset Flores, Carlos Gancedo

El funcionamiento correcto del metabolismo\n\t\t\t\t es fundamental para la vida de los\n\t\t\t\t organismos. Los libros de bioquímica han\n\t\t\t\t presentado una imagen del metabolismo\n\t\t\t\t que, si bien facilita su estudio, en ocasiones\n\t\t\t\t no refleja la complejidad de la red metabólica.

us, cr, es, py (code pays fourni par la source)

A moonlighting protein in the non-conventional yeast Yarrowia lipolytica

Carmen‐Lisset Flores, Carlos Gancedo

Resumen del trabajo presentado al International Symposium Yeasts: at the cross-roads of Systems biology and Biomedicine: In memory of Professor Julio Rodriguez Villanueva, celebrado en Madrid (Espana) del 23 al 24 de enero de 2020.

The metabolic and transcriptional regulatory functions of the N-acetylglucosamine kinase from Yarrowia lipolytica can be separated

Carmen‐Lisset Flores, Carlos Gancedo

Resumen del póster presentado al 42nd Congress of the Spanish Society of Biochemistry and Molecular Biology (SEBBM), celebrado en Madrid del 16 al 19 de julio de 2019.

Construction and characterization of a Saccharomyces cerevisiae strain able to grow on glucosamine as sole carbon and nitrogen source

Carmen‐Lisset Flores, Carlos Gancedo

Saccharomyces cerevisiae can transport and phosphorylate glucosamine, but cannot grow on this amino sugar. While an enzyme catalyzing the reaction from glucosamine-6-phosphate to fructose-6-phosphate, necessary for glucosamine catabolism, is present in yeasts using N-acetylglucosamine as carbon source, a sequence homology search suggested …

es (code pays fourni par la source)