Cristina Barrionuevo

A functional variant that affects exon-skipping and protein expression of<i>SP140</i>as genetic mechanism predisposing to multiple sclerosis

Fuencisla Matesanz, Víctor Potenciano, Marı́a Fedetz et al. · Human Molecular Genetics · 2015 · 54 citations · Full text

SP140 regulates the expression of immune-related genes associated with multiple sclerosis and other autoimmune diseases by NF-κB inhibition

Mohamad Karaky, Marı́a Fedetz, Víctor Potenciano et al. · Human Molecular Genetics · 2018 · 34 citations · Full text

Genetics, Immunology, Immune Regulation +29

The multiple sclerosis-associated regulatory variant rs10877013 affects expression of <i>CYP27B1</i> and <i>VDR</i> under inflammatory or vitamin D stimuli

Mohamad Karaky, Antonio Alcina, Marı́a Fedetz et al. · Multiple Sclerosis Journal · 2015 · 20 citations

A splice variant in the ACSL5 gene relates migraine with fatty acid activation in mitochondria

Fuencisla Matesanz, Marı́a Fedetz, Cristina Barrionuevo et al. · European Journal of Human Genetics · 2016 · 14 citations · Full text

Splice-site variant in ACSL5: a marker promoting opposing effect on cell viability and protein expression

Iván Pérez-Núñez, Mohamad Karaky, Marı́a Fedetz et al. · European Journal of Human Genetics · 2019 · 13 citations · Full text

Genetics, Metabolic Remodeling, Splicing Variant +20