Lista de obras -

A minor alternative transcript of the fumarylacetoacetate hydrolase gene produces a protein despite being likely subjected to nonsense-mediated mRNA decay

artículo científico publicado en 2005

A missense mutation (Q279R) in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation

artículo científico publicado en 2001

Analysis of fibroblasts from patients with cblC and cblG genetic defects of cobalamin metabolism reveals global dysregulation of alternative splicing

artículo científico publicado en 2020

Antagonistic factors control the unproductive splicing of SC35 terminal intron.

artículo científico publicado en 2009

Combined use of multiparametric flow cytometry and cytomorphology to enhance detection of neuroblastoma metastatic cells in bone marrow

scientific article published on 10 December 2019

Cytoplasmic nonsense-mediated mRNA decay for a nonsense (W262X) transcript of the gene responsible for hereditary tyrosinemia, fumarylacetoacetate hydrolase

artículo científico publicado en 2004

Early methyl donor deficiency alters cAMP signaling pathway and neurosteroidogenesis in the cerebellum of female rat pups

artículo científico publicado en 2014

Genetic animal models to decipher the pathogenic effects of vitamin B12 and folate deficiency.

artículo científico publicado en 2016

Glucocorticoid Receptor Activation Restores Learning Memory by Modulating Hippocampal Plasticity in a Mouse Model of Brain Vitamin B12 Deficiency

artículo científico publicado en 2020

Human RBMY regulates germline-specific splicing events by modulating the function of the serine/arginine-rich proteins 9G8 and Tra2-{beta}.

artículo científico publicado en 2010

Inherited disorders of cobalamin metabolism disrupt nucleocytoplasmic transport of mRNA through impaired methylation/phosphorylation of ELAVL1/HuR

scientific article published on 01 September 2018

Interaction between methionine synthase isoforms and MMACHC: characterization in cblG-variant, cblG and cblC inherited causes of megaloblastic anaemia

artículo científico publicado en 2013

Misregulation of miR-1 processing is associated with heart defects in myotonic dystrophy

artículo científico publicado en 2011

Multiple cis elements regulate an alternative splicing event at 4.1R pre-mRNA during erythroid differentiation ⬇️

artículo científico publicado el 15 de diciembre de 2001

Nutrigenomics and RNA methylation: Role of micronutrients

scientific article published on 11 July 2019

Presence of three mutations in the fumarylacetoacetate hydrolase gene in a patient with atypical symptoms of hereditary tyrosinemia type I

artículo científico publicado en 2019

Rapid screening of yeast mutants with reporters identifies new splicing phenotypes ⬇️

artículo científico publicado el 9 de mayo de 2013

SIRT1 activation rescues the mislocalization of RNA-binding proteins and cognitive defects induced by inherited cobalamin disorders

scientific article published on 28 October 2019

Structural and functional analysis of the Rous Sarcoma virus negative regulator of splicing and demonstration of its activation by the 9G8 SR protein