A5086959747- Muscle Physiology and Disorders
- Genetic Neurodegenerative Diseases
- Ubiquitin and proteasome pathways
- Cell Adhesion Molecules Research
- Zebrafish Biomedical Research Applications
- RNA Research and Splicing
- Nicotinic Acetylcholine Receptors Study
- Calpain Protease Function and Regulation
- Environmental Toxicology and Ecotoxicology
- Adipose Tissue and Metabolism
- Neurogenetic and Muscular Disorders Research
- Connective tissue disorders research
- RNA regulation and disease
- Mesenchymal stem cell research
- Biotin and Related Studies
- Osteoarthritis Treatment and Mechanisms
- Telomeres, Telomerase, and Senescence
- Nerve injury and regeneration
- Birth, Development, and Health
- Genetics and Physical Performance
- Reproductive Health and Contraception
- Hippo pathway signaling and YAP/TAZ
- Neuroinflammation and Neurodegeneration Mechanisms
- PI3K/AKT/mTOR signaling in cancer
- Mitochondrial Function and Pathology
Biogipuzkoa Health Research Institute
2012-2023
Instituto de Salud Carlos III
2015-2023
King's College London
2015-2022
Ministry of Economy, Industry and Competitiveness
2012-2017
Biomedical Research Networking Center on Neurodegenerative Diseases
2012-2017
Wellcome Centre for Cell-Matrix Research
2009
University of Manchester
2009
ABSTRACT VGLL proteins are transcriptional co-factors that bind TEAD family transcription factors to regulate events ranging from wing development in fly, muscle fibre composition and immune function mice. Here, we characterise Vgll3 skeletal muscle. We found mouse was expressed at low levels healthy but its increased during hypertrophy or regeneration; humans, VGLL3 highly tissues patients with various diseases, such as dystrophic alveolar rhabdomyosarcoma. Interaction proteomics revealed...
Myotonic dystrophy type 1 (DM1) is caused by the expansion of CTG repeats in 3′ untranslated region DMPK gene. Several missplicing events and transcriptional alterations have been described DM1 patients. A large number these defects reproduced animal models expressing alone. Recent studies also reported miRNA dysregulation In this work, a Drosophila model was used to investigate transcriptome muscle, specifically triggered expansions. Twenty miRNAs were differentially expressed...
Mutations in the non-lysosomal, cysteine protease calpain 3 (CAPN3) result disease limb girdle muscular dystrophy type 2A (LGMD2A). CAPN3 is localized to several subcellular compartments, including triads, where it plays a structural, rather than proteolytic, role. In absence of CAPN3, triad components are reduced, major Ca2+ release channel, ryanodine receptor (RyR). Furthermore, upon excitation impaired CAPN3. present study, we show that Ca-calmodulin protein kinase II (CaMKII) signaling...
Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED) are relatively common skeletal dysplasias belonging to the same bone family. PSACH is characterized by generalized epi-metaphyseal dysplasia, short-limbed dwarfism, joint laxity early onset osteoarthritis. MED a milder disease with radiographic features often restricted epiphyses of long bones. some forms result from mutations in cartilage oligomeric matrix protein (COMP), pentameric glycoprotein found cartilage, tendon,...
Monoamine oxidases (MAO) are a valuable class of mitochondrial enzymes with critical role in neuromodulation. In this study, we investigated the effect natural MAO inhibitors on novel environment-induced anxiety by using zebrafish tank test (NTT). Because spend more time at bottom when they anxious, anxiolytic compounds increase top and vice versa. Using paradigm, found that harmane, norharmane, 1,2,3,4-tetrahydroisoquinoline (TIQ) induce anxiolytic-like effects zebrafish, causing them to...
Facioscapulohumeral muscular dystrophy (FSHD) involves sporadic expression of DUX4, which inhibits myogenesis and is pro-apoptotic. To identify target genes, we over-expressed DUX4 in myoblasts found that the receptor tyrosine kinase Ret was significantly up-regulated, suggesting a role FSHD. RET dynamically expressed during myogenic progression mouse human myoblasts. Constitutive either RET9 or RET51 increased myoblast proliferation, whereas siRNA-mediated knockdown induced differentiation....
Wnt-β-catenin signalling is essential for skeletal muscle myogenesis during development, but its role in adult human remains unknown. Here we have used primary CD56Pos satellite cell-derived myogenic progenitors obtained from healthy individuals to study the of differentiation. We show that dephosphorylated β-catenin (active-β-catenin), central effector canonical Wnt cascade, strongly upregulated at onset differentiation and undergoes nuclear translocation as progresses. To establish...
Abstract Background The age‐related loss of muscle mass and quality, sarcopenia, has many contributing factors, one which may be cellular senescence, but this is not well defined in human skeletal muscle. Method Primary cells were isolated from biopsy samples the vastus lateralis healthy adult males ( n = 6, 22 ± 1 years), sorted (magnetic activated cell sorting) chemically induced (doxorubicin, DOX, 0.2 μM) to a senescent state. This allowed parallel simultaneous investigation two main...
Limb-girdle muscular dystrophy type 2A (LGMD2A) is characterised by muscle wasting and progressive degeneration of proximal muscles because mutations in the CAPN3 gene. However, underlying pathophysiological mechanisms are still not well understood. The objective this study was to assess relevance genes with differential expression LGMD2A patients. For purpose, we analysed their vitro primary cultures human myoblasts myotubes. Abnormal fusion observed myotubes these patients, which may be...
Abstract Background Limb-girdle muscular dystrophy R1 calpain 3-related (LGMDR1) is an autosomal recessive due to mutations in the CAPN3 gene. While pathophysiology of this disease has not been clearly established yet, Wnt and mTOR signaling pathways impairment LGMDR1 muscles reported. Results A reduction Akt phosphorylation ratio upregulated expression proteins implicated glycolysis (HK-II) fructose lactate transport (GLUT5 MCT1) muscle was observed. In vitro analysis establish...
Alkaloids that target nicotinic acetylcholine receptors (nAChR) are of great interest because the critical role they play in mood and anxiety. However, understanding neuropharmacological effects alkaloids, such as cotinine anatabine, is very limited. In this study, we investigated three naturally occurring alkaloids-nicotine, cotinine, anatabine-
Alkaloids are a structurally complex group of natural products that have diverse range biological activities and significant therapeutic applications. In this study, we examined the acute, anxiolytic-like effects nicotinic acetylcholine receptor (nAChR)-activating alkaloids with reported neuropharmacological but whose on anxiety less well understood. Because α4β2 nAChRs can regulate anxiety, first demonstrated functional these receptors in vitro. Their anxiety-like behavior zebrafish were...
ABSTRACT Limb‐girdle muscular dystrophy type 2A (LGMD2A) due to mutations in the CAPN3 gene is one of most common autosomal recessive limb‐girdle dystrophies. We describe a patient who had typical LGMD2A phenotype and posterior compartment involvement on MRI. Different genetic analyses were performed, including microarray analysis. There was an apparently homozygous mutation exon 24, c.2465G>T, p.(*822Leuext62*), lack correlation disease segregation analyses. This suggested presence...
2A motako gerrietako muskulu-distrofia (LGMD2A) CAPN3 geneko mutazioen ondorio den gaixotasun autosomiko azpirakorra da. geneak muskulu eskeletikoan adierazten kalpaina 3 proteina kodetzen du. Ikerlan honetan, LGMD2A gaixoen diagnostiko molekularra egin da eta MLPA erabili berrordenatze posibleak identifikatzeko. Teknika horri esker lau delezio mota identifikatu dira. Gure emaitzetan oinarrituz, gaixotasunaren egiteko algoritmo bat proposatzen dugu.