A5062046506- Microtubule and mitosis dynamics
- Muscle Physiology and Disorders
- RNA Research and Splicing
- Nuclear Structure and Function
- Epigenetics and DNA Methylation
- Metabolism and Genetic Disorders
- Liver Disease and Transplantation
- Genetics and Neurodevelopmental Disorders
- Mitochondrial Function and Pathology
- Cancer-related Molecular Pathways
- Pluripotent Stem Cells Research
- DNA Repair Mechanisms
- RNA and protein synthesis mechanisms
- ATP Synthase and ATPases Research
- Genomics and Chromatin Dynamics
- Trace Elements in Health
- Cancer Research and Treatment
- Bacterial Identification and Susceptibility Testing
- Collagen: Extraction and Characterization
- Neonatal and fetal brain pathology
- Carcinogens and Genotoxicity Assessment
- Bone Metabolism and Diseases
- HIV Research and Treatment
- Prion Diseases and Protein Misfolding
- Ubiquitin and proteasome pathways
Institute for Research in Biomedicine
2015-2024
CIBBIM-Nanomedicine
2022
Vall d'Hebron Institute of Oncology
2022
Institute of Science and Technology
2021
Vall d'Hebron Institut de Recerca
2010-2016
Centre for Biomedical Network Research on Rare Diseases
2013
Universitat Autònoma de Barcelona
2011-2013
Instituto de Salud Carlos III
2010-2013
Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas
2010
Vall d'Hebron Hospital Universitari
2010
CEP63 is a centrosomal protein that facilitates centriole duplication and regulated by the DNA damage response. Mutations in cause Seckel syndrome, human disease characterized microcephaly dwarfism. Here we demonstrate Cep63-deficient mice recapitulate syndrome pathology. The attrition of neural progenitor cells involves p53-dependent cell death, brain size rescued deletion p53. Cell death not result an aberrant response but triggered centrosome-based mitotic errors. In addition, Cep63 loss...
Linezolid, an oxazolidinone antibiotic, inhibits bacterial protein synthesis by binding to 23S ribosomal RNA (rRNA). We studied 3 patients who experienced lactic acidosis while receiving linezolid therapy. The toxicity may have been caused mitochondrial 16S rRNA. Genetic polymorphisms contributed the in 2 patients.
Abstract The human transcriptome contains thousands of small open reading frames (sORFs) that encode microproteins whose functions remain largely unexplored. Here, we show TINCR lncRNA encodes pTINCR, an evolutionary conserved ubiquitin-like protein (UBL) expressed in many epithelia and upregulated upon differentiation under cellular stress. By gain- loss-of-function studies, demonstrate pTINCR is a key inducer epithelial vitro vivo. Interestingly, low expression associates with worse...
In 2001, we reported linkage of an autosomal dominant form limb-girdle muscular dystrophy, dystrophy 1F, to chromosome 7q32.1-32.2, but the identity mutant gene was elusive. Here, using a whole genome sequencing strategy, identified causative mutation heterozygous single nucleotide deletion (c.2771del) in termination codon transportin 3 (TNPO3). This is situated within chromosomal region linked disease and encodes nuclear membrane protein belonging importin beta family. TNPO3 transports...
<b><i>Background:</i></b> Fourteen genetically distinct forms of limb-girdle muscular dystrophy (LGMD) have been identified, including five types autosomal dominant LGMD (AD-LGMD). <b><i>Objective:</i></b> To describe clinical, histologic, and genetic features a large Spanish kindred with apparent inheritance spanning generations. <b><i>Method:</i></b> The authors examined 61 members the family; muscle biopsies were performed on patients. Linkage analysis assessed chromosomal loci associated...
In 2001, the authors described clinical features of a genetically distinct autosomal dominant limb-girdle muscular dystrophy (LGMD; LGMD 1F). Using genome-wide screen with more than 400 microsatellite markers, identified novel disease locus at chromosome 7q32.1-32.2. Within this chromosomal region, <i>filamin C</i>, gene encoding actin binding protein highly expressed in muscle, was an obvious candidate gene; however, did not detect any defects C</i> or its product.
Familial expansile osteolysis (FEO) is a rare autosomal dominant disorder resembling Paget’s disease of bone (PDB), characterised by osteolytic lesions. These are mainly located in the long bones and spare axial skeleton. Progressive osteoclastic resorption accompanied medullar expansion leads to severe, painful, disabling deformity tendency pathological fracture. Characteristically, FEO deafness loss dentition as result middle ear jaw abnormalities, biochemically serum alkaline phosphatase...
The maintenance of genome stability is critical for the suppression diverse human pathologies that include developmental disorders, premature aging, infertility and predisposition to cancer. DNA damage response (DDR) orchestrates appropriate cellular responses following detection lesions prevent genomic instability. MRE11 complex a sensor double strand breaks (DSBs) plays key roles in multiple aspects DDR, including end resection signaling repair. has been shown function both upstream...
Microtubules that assemble the mitotic spindle are generated by centrosomal nucleation, chromatin-mediated and nucleation from surface of other microtubules mediated augmin complex. Impairment in apical progenitors developing mouse brain induces p53-dependent apoptosis causes non-lethal microcephaly. Whether disruption non-centrosomal has similar effects is unclear. Here, we show, using embryos, conditional knockout subunit Haus6 led to defects delay. This triggered massive abortion...
Experimental models of hepatic encephalopathy (HE) are limited by difficulties in objectively monitoring neuronal function. There few that examine a well-defined pathway and lack the confounding effects anesthetics. Motor-evoked potentials (MEPs) assess function motor tract, which has been shown to be impaired patients with cirrhosis. MEPs were elicited cranial stimulation (central) compound action potential sciatic nerve (peripheral) several HE rat. The experiments performed using...
The Tousled-like kinases 1 and 2 (TLK1/TLK2) regulate DNA replication, repair chromatin maintenance. TLK2 variants underlie the neurodevelopmental disorder (NDD) 'Intellectual Disability, Autosomal Dominant 57' (MRD57), characterized by intellectual disability microcephaly. Several TLK1 have been reported in NDDs but their functional significance is unknown. A male patient presenting with ID, seizures, global developmental delay, hypothyroidism, primary immunodeficiency was determined to a...
Alport syndrome is a hereditary glomerulonephritis, X-linked in 85% of the cases. This form associated with mutations COL4A5 gene which encodes alpha5 chain type IV collagen. We have performed mutational analysis Spanish family syndrome.We analyzed three polymorphic markers close to confirm X chromosome linkage. By means PCR technique, we screened 51 exons gene.The segregation alleles from was agreement Direct sequencing PCR-amplified products has shown CCT-to-CTT change exon 25, resulting...
Abstract Background The Tousled-like kinases 1 and 2 (TLK1/TLK2) regulate DNA replication, repair chromatin maintenance. TLK2 variants are associated with ‘Intellectual Disability, Autosomal Dominant 57’ (MRD57), a neurodevelopmental disorder (NDD) characterized by intellectual disability (ID), autism spectrum (ASD) microcephaly. Several TLK1 have been reported in NDDs but their functional significance is unknown. Methods A male patient presenting ID, seizures, global developmental delay,...
Summary Microtubules that assemble the mitotic spindle are generated by three different mechanisms: centrosomal nucleation, chromatin-mediated and nucleation from surface of other microtubules mediated augmin complex. Impairment in apical progenitors developing mouse brain induces p53-dependent apoptosis causes non-lethal microcephaly. Whether disruption non-centrosomal has similar effects is unclear. Here we show, using embryos, conditional knockout subunit Haus6 led to defects delay. This...