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Concept

RNA splicing

Related publications (30)

Bicistronic aav vector for rna interference in als

Bernard Schneider, Cylia Cloé Rochat, Julianne Bobela

The present invention relates to a bicistronic expression vector for silencing a gene specifically in astrocytes and neurons, comprising two expression cassettes comprising a first and a second silencer sequence, respectively, wherein the expression of sai ...

2017

Abnormal creatine transport of mutations in monocarboxylate transporter 12 (MCT12) found in patients with age-related cataract can be partially rescued by exogenous chaperone CD147

Membrane transporters influence biological functions in the ocular lens. Here, we investigate the monocarboxylate transporter 12 (MCT12), also called creatine transporter 2 (CRT2), which is found in the ocular lens and is involved in cataract. As the age-r ...

Oxford University Press2017

Who Activates the Nucleophile in Ribozyme Catalysis? An Answer from the Splicing Mechanism of Group II Introns

Ursula Röthlisberger, Giulia Palermo

Group II introns are Mg2+-dependent ribozymes that are considered to be the evolutionary ancestors of the eukaryotic spliceosome, thus representing an ideal model system to understand the mechanism of conversion of premature messenger RNA (mRNA) into matur ...

2016

Phase specific transcriptional regulation of circadian clock and metabolism in mouse liver

Jonathan Aryeh Sobel

The molecular clock has been conserved from cyanobacteria to mammals and is believed to align behavioral and biochemical processes with the diurnal cycle. This cellular mechanism has been an advantage to increase the fitness of organisms through the abilit ...

EPFL2016

Potential blindness in children of patients with hereditary bone disease

Mono- and bi-allelic mutations in the low-density lipoprotein receptor related protein 5 (LRP5) may cause osteopetrosis, autosomal dominant and recessive exudative vitreoretinopathy, juvenile osteoporosis, or persistent hyperplastic primary vitreous (PHPV) ...

Springer London Ltd2016

Temperature regulates splicing efficiency of the cold-inducible RNA-binding protein gene Cirbp

Felix Naef

In mammals, body temperature fluctuates diurnally around a mean value of 36 degrees C-37 degrees C. Despite the small differences between minimal and maximal values, body temperature rhythms can drive robust cycles in gene expression in cultured cells and, ...

Cold Spring Harbor Laboratory2016

Identifying mutations in Tunisian families with retinal dystrophy

Retinal dystrophies (RD) are a rare genetic disorder with high genetic heterogeneity. This study aimed at identifying disease-causing variants in fifteen consanguineous Tunisian families. Full ophthalmic examination was performed. Index patients were subje ...

Nature Research2016

Genome-Wide Ultrabithorax Binding Analysis Reveals Highly Targeted Genomic Loci at Developmental Regulators and a Potential Connection to Polycomb-Mediated Regulation

Antonio Carlos Alves Meireles Filho

Hox homeodomain transcription factors are key regulators of animal development. They specify the identity of segments along the anterior-posterior body axis in metazoans by controlling the expression of diverse downstream targets, including transcription f ...

Public Library of Science2016

NAD(+) repletion improves muscle function in muscular dystrophy and counters global PARylation

Johan Auwerx, Carlos Canto Alvarez, Laurent Mouchiroud, Dongryeol Ryu, Hongbo Zhang, Vincenzo Sorrentino, Keir Joe Menzies, Xu Wang, Karim Laurent Gariani

Neuromuscular diseases are often caused by inherited mutations that lead to progressive skeletal muscle weakness and degeneration. In diverse populations of normal healthy mice, we observed correlations between the abundance of mRNA transcripts related to ...

Amer Assoc Advancement Science2016

Malaria Parasite-Infected Erythrocytes Secrete PfCK1, the Plasmodium Homologue of the Pleiotropic Protein Kinase Casein Kinase 1

Romain Hamelin, Florence Armand, Marc Moniatte

Casein kinase 1 (CK1) is a pleiotropic protein kinase implicated in several fundamental processes of eukaryotic cell biology. Plasmodium falciparum encodes a single CK1 isoform, PfCK1, that is expressed at all stages of the parasite's life cycle. We have p ...

Public Library of Science2015