A5039824498- Hereditary Neurological Disorders
- Cancer Genomics and Diagnostics
- Neurological diseases and metabolism
- Acute Myeloid Leukemia Research
- Genetic Neurodegenerative Diseases
- Pancreatic and Hepatic Oncology Research
- Neurogenetic and Muscular Disorders Research
- Genetic factors in colorectal cancer
- Parasites and Host Interactions
- Cardiomyopathy and Myosin Studies
- Trypanosoma species research and implications
- Genomics and Phylogenetic Studies
- Signaling Pathways in Disease
- Genomic variations and chromosomal abnormalities
- RNA modifications and cancer
- Lysosomal Storage Disorders Research
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Nuclear Structure and Function
- Parasite Biology and Host Interactions
- Genomics and Rare Diseases
- Pediatric Hepatobiliary Diseases and Treatments
- Ocular Disorders and Treatments
- Edible Oils Quality and Analysis
- Infectious Encephalopathies and Encephalitis
- Insect symbiosis and bacterial influences
Instituto de Investigación Sanitaria La Fe
2015-2025
Hospital Universitari i Politècnic La Fe
2017-2025
Parc Científic de la Universitat de València
2011-2020
Leitat Technological Center
2016-2019
Universitat de València
2013
Centro de Investigación Biomédica en Red
2007
Centre for Biomedical Network Research on Rare Diseases
2007
Instituto de Biomedicina de Valencia
2005-2007
Consejo Superior de Investigaciones Científicas
2001-2005
Foundation University Islamabad
2002
Mutations in GDAP1, the ganglioside-induced differentiation-associated protein 1 gene, cause Charcot–Marie–Tooth (CMT) type 4A, a severe autosomal recessive form of neuropathy associated with either demyelinating or axonal phenotypes. Here, we demonstrate that GDAP1 has far greater expression neurons than myelinating Schwann cells. We investigated cell localization human neuroblastoma line by means transient overexpression and co-localization organelle markers COS-7 cells western blot...
<b><i>Background: </i></b> Mutations in the ganglioside-induced differentiation-associated protein 1 gene (<i>GDAP1</i>) were recently shown to be responsible for autosomal recessive (AR) demyelinating Charcot–Marie–Tooth disease (CMT) type 4A (CMT4A) as well AR axonal CMT with vocal cord paralysis. <b><i>Methods: The coding region of <i>GDAP1</i> was screened presence mutations seven families which patients homozygous markers CMT4A locus at chromosome 8q21.1. <b><i>Results: A nonsense...
Olive breeding programmes are focused on selecting for traits as short juvenile period, plant architecture suited mechanical harvest, or oil characteristics, including fatty acid composition, phenolic, and volatile compounds to suit new markets. Understanding the molecular basis of these characteristics improving efficiency such require development genomic information tools. However, despite its economic relevance, olive closely related species is still scarce. We have applied Sanger 454...
Insects are associated with microorganisms that contribute to the digestion and processing of nutrients. The European Corn Borer (ECB) is a moth present world-wide, causing severe economical damage as pest on corn other crops. In work, we give detailed view complexity forming ECB midgut microbiota objective comparing biodiversity midgut-associated explore their potential source genes enzymes biotechnological applications.A high-throughput sequencing approach has been used identify bacterial...
Liver biopsy is currently the only reliable method to establish nonalcoholic fatty liver disease (NAFLD) severity. However, this technique invasive and occasionally associated with severe complications. Thus, non-invasive diagnostic markers for NAFLD are needed. Former studies have postulated 18 different serum microRNA biomarkers altered levels in patients. In present study, we re-examined predictive value of these microRNAs found that 9 them (miR-34a, -192, -27b, -122, -22, -21, -197, -30c...
Small RNAs (sRNAs) of 20 to 25 nucleotides (nt) in length maintain genome integrity and control gene expression a multitude developmental physiological processes. Despite RNA silencing has been primarily studied model plants, the advent high-throughput sequencing technologies enabled profiling sRNA component more than 40 plant species. Here, we used deep molecular methods report first inventory sRNAs olive (Olea europaea L.). libraries prepared from juvenile adult shoots revealed that 24-nt...
Rare diseases (RDs) often have a genetic basis, yet conventional diagnostic techniques fail to identify causative variations in up 50% of cases. Structural variants (SVs), including balanced rearrangements, frequently evade detection by karyotyping, microarray, and exome sequencing. The present study utilized optical genome mapping (OGM) investigate two patients with RDs whose etiology remained unresolved despite prior genomic analyses. Patient 1 exhibited reciprocal translocation disrupting...
Abstract Mutations in the mitochondrial protein GDAP1 are cause of Charcot‐Marie‐Tooth type 4A disease (CMT4A), a severe form peripheral neuropathy associated with either demyelinating, axonal or intermediate pheno‐types. is located outer membrane and it seems that may be related network dynamics. We interested to define cell expression nervous system effect mutations morphology pathogenesis disease. investigated dorsal root ganglia (DRG) neuron cultures. expressed motor sensory neurons...
Background Strongyloidiasis is one of the most neglected diseases distributed worldwide with endemic areas in developed countries, where chronic infections are life threatening. Despite its impact, very little known about molecular biology parasite involved and interplay hosts. Next generation sequencing technologies now provide unique opportunities to rapidly address these questions. Principal Findings Here we present first transcriptome third larval stage S. stercoralis using 454 coupled...
Glaucoma has no cure and is a sight-threatening neurodegenerative disease affecting more than 100 million people worldwide, with primary open angle glaucoma (POAG) being the most globally prevalent clinical type. Regulation of gene expression networks, its multifactorial pathways involved in are landmarks for ophthalmic research. MicroRNAs (miRNAs/miRs) small endogenous non-coding, single-stranded RNA molecules (18–22 nucleotides) that regulate expression. An analytical, observational,...
<b><i>Background:</i></b> Variable responses to hypothermic neuroprotection are related the clinical heterogeneity of encephalopathic babies; hence better disease stratification may facilitate development individualized neuroprotective therapies. <b><i>Objectives:</i></b> We examined if whole blood gene expression analysis can identify specific transcriptome profiles in neonatal encephalopathy. <b><i>Material and...
The incidence of SF3B1 mutations in patients with RARS is high. Recently, it has been shown that and DNMT3A overlap more often than expected, although not clear how this could affect the disease. We studied 123 patients: 101 out samples (82%) had somatic SF3B1, 13 them (13%) showed a co-mutation (SF3B1mutDNMT3Amut). All co-mutated normal karyotype, 12 (92%) were lower-risk (IPSS IPSS-R). Despite their favorable profile, SF3B1mutDNMT3Amut higher RBC transfusion dependency (92% versus 48%, p =...
Objective: To describe a patient with facial onset sensory and motor neuronopathy (FOSMN) carrying heterozygous mutations in both TARDBP SQSTM1 genes. Methods: The underwent neurological, neuropsychological, neurophysiological examinations. Brain magnetic resonance imaging (MRI) extensive genetic analysis were also performed. Results: neurological examination showed dysphonia, left trigeminal hypesthesia, masseter temporalis muscle atrophy. Mild cognitive impairment, affecting predominantly...
Nemaline Myopathy (NM) is a rare genetic disorder that encompasses large spectrum of myopathies characterized by hypotonia and generalized muscle weakness. To date, mutations in thirteen different genes have been associated with NM. The most frequently responsible are NEB (50% cases) ACTA1 (15–25% cases). In this report all known NM related were screened Next Generation Sequencing five Spanish patients order to genetically confirm the clinical histological diagnosis Four (c.17779_17780delTA,...
Background: Nance-Horan syndrome (NHS) is an X-linked rare congenital disorder caused by mutations in the NHS gene. Clinical manifestations include cataracts, facial and dental dysmorphism and, some cases, intellectual disability. The aim of present work was to identify genetic cause this disease two unrelated Spanish families determine relative involvement gene pathogenesis.Materials methods: Four members a two-generation family, three males one female (Family 1), seven three-generation...
Abstract Glycosylphosphatidylinositol‐anchored proteins are involved in multiple physiological processes and the initial stage of their biosynthesis is mediated by PIGA, PIGC, PIGH, PIGP, PIGQ, PIGY , DMP2 genes, which have been linked to a wide spectrum phenotypes depending on gene damaged. To date, PIGP has only related Developmental Epileptic Encephalopathy 55 (MIM#617599) just seven patients. A detailed medical history was performed two affected siblings with malformation syndrome....