A5002955866- Muscle Physiology and Disorders
- Mitochondrial Function and Pathology
- MicroRNA in disease regulation
- Cancer-related molecular mechanisms research
- Tissue Engineering and Regenerative Medicine
- Cancer Research and Treatments
- Circular RNAs in diseases
- Laser Applications in Dentistry and Medicine
- Genetic Neurodegenerative Diseases
- Extracellular vesicles in disease
- Neurological disorders and treatments
- Retinal Development and Disorders
- RNA regulation and disease
- Metabolism and Genetic Disorders
Departament de Salut
2020-2023
Universitat de Barcelona
2020-2023
Inserm
2019-2020
Sorbonne Université
2020
Institut de la Vision
2019-2020
Centre National de la Recherche Scientifique
2020
Small RNAs (sRNAs) are bioactive molecules that can be detected in biofluids, reflecting physiological and pathological states. In plasma, sRNAs found within extracellular vesicles (EVs) extravesicular compartments, offering potential sources of highly sensitive biomarkers. Deep sequencing strategies to profile favor the detection microRNAs (miRNAs), best-known class sRNAs. Phospho-RNA-seq, through enzymatic treatment with T4 polynucleotide kinase (T4-PNK), has been recently developed...
Rod-cone dystrophy (RCD), also called retinitis pigmentosa, is characterized by rod followed cone photoreceptor degeneration, leading to gradual visual loss. Mutations in over 65 genes have been associated with non-syndromic RCD explaining 60% 70% of cases, novel gene defects possibly accounting for the unsolved cases. Homozygosity mapping and whole-exome sequencing applied a case autosomal recessive from consanguineous union identified homozygous variant WDR34. WDR34 previously severe...