A5075255886- Metabolism and Genetic Disorders
- Mitochondrial Function and Pathology
- Genetic Neurodegenerative Diseases
- Folate and B Vitamins Research
- RNA Research and Splicing
- Alcoholism and Thiamine Deficiency
- Esophageal and GI Pathology
- Biochemical and Molecular Research
- RNA modifications and cancer
- Respiratory viral infections research
- Influenza Virus Research Studies
- Pancreatitis Pathology and Treatment
- Neuroethics, Human Enhancement, Biomedical Innovations
- Muscle Physiology and Disorders
- Adrenal Hormones and Disorders
- Gastrointestinal disorders and treatments
- Wound Healing and Treatments
- Glycogen Storage Diseases and Myoclonus
- Connective tissue disorders research
- Parkinson's Disease Mechanisms and Treatments
- Liver Disease Diagnosis and Treatment
- Corneal Surgery and Treatments
- Global Cancer Incidence and Screening
- Cleft Lip and Palate Research
- Planarian Biology and Electrostimulation
Instituto de Salud Carlos III
2021-2024
Centro de Investigación Biomédica en Red
2008-2024
Centre for Biomedical Network Research on Rare Diseases
2008-2024
Universidad Autónoma de Madrid
2004-2024
Hospital La Paz Institute for Health Research
2023-2024
Hospital Clínico Universitario de Valladolid
2022-2023
Clínica MEDS (Chile)
2022
Complejo Hospitalario de Ourense
2003-2021
Complexo Hospitalario Universitario A Coruña
2021
Conselleria de Sanitat Universal i Salut Pública
2021
This study was aimed at analyzing the effect of mutations in three non-synonymous SNP genes (677C > T and 1298A C methylenetetrahydrofolate reductase (MTHFR) gene, 66A G MTRR gene) on total plasmatic homocysteine (Hcy), 91 mothers Down syndrome (DS) infants 90 control mothers. The comparison both groups is a new way to determine if those their interactions increase risk for DS. Material came from case-control network Spanish Collaborative Study Congenital Malformations (ECEMC). Using general...
Summary Purpose Pyridoxine‐dependent epilepsy seizure ( PDE ; OMIM 266100) is a disorder associated with severe seizures that can be controlled pharmacologically pyridoxine. In the majority of patients , caused by deficient activity enzyme α‐aminoadipic semialdehyde dehydrogenase (antiquitin protein), which encoded ALDH7A1 gene. The aim this work was clinical, biochemical, and genetic analysis 12 unrelated patients, mostly from S pain, in an attempt to provide further valuable data regarding...
Biallelic variants of the gene DNAJC12, which encodes a cochaperone, were recently described in patients with hyperphenylalaninemia (HPA). This paper reports retrospective genetic analysis cohort unsolved cases HPA. DNAJC12 identified 20 (generally neurologically asymptomatic) previously diagnosed phenylalanine hydroxylase (PAH) deficiency (phenylketonuria [PKU]). Further, mutations four carriers pathogenic variant PAH. The spectrum present included new variants, two intronic changes...
Altered CPEBs and mRNA polyadenylation lead to thiamine deficiency in the brains of patients mice with Huntington’s disease.
Background Limb-girdle muscular dystrophies (LGMD) are a heterogeneous group of genetically determined muscle disorders. TRAPPC11-related LGMD is an autosomal-recessive condition characterised by weakness and intellectual disability. Methods A clinical histopathological characterisation 25 Roma individuals with R18 caused the homozygous TRAPPC11 c.1287+5G>A variant reported. Functional effects on mitochondrial function were investigated. Results The leads to phenotype early onset...
The pathophysiology of Nonketotic Hyperglycinemia (NKH), a rare neuro-metabolic disorder associated with severe brain malformations and life-threatening neurological manifestations, remains incompletely understood. Therefore, valid human neuronal model is essential. We aimed to investigate the impact GLDC gene variants, which cause NKH, on cellular fitness during differentiation process induced pluripotent stem cells (iPSCs) into iPSC-derived astrocytes identify sustainable mechanisms...
The pathophysiology of nonketotic hyperglycinemia (NKH), a rare neuro-metabolic disorder associated with severe brain malformations and life-threatening neurological manifestations, remains incompletely understood. Therefore, valid human neural model is essential. We aimed to investigate the impact GLDC gene variants, which cause NKH, on cellular fitness during differentiation process induced pluripotent stem cells (iPSCs) into iPSC-derived astrocytes identify sustainable mechanisms capable...
We have generated using CRISPR/Cas9 technology a partially humanized mouse model of the neurometabolic disease phenylketonuria (PKU), carrying highly prevalent PAH variant c.1066-11G>A. This creates an alternative 3' splice site, leading to inclusion 9 nucleotides coding for 3 extra amino acids between Q355 and Y356 protein. Homozygous Pah c.1066-11A mice, with intron 10 sequence variant, accurately recapitulate splicing defect present almost undetectable hepatic activity. They exhibit fur...
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It is broadly described that almost every step of the regeneration process requires proper levels oxygen supply; however, due to vascular disruption in wounds, availability reduced, being detrimental process. Therefore, development novel biomaterials combined with improved clinical procedures promote wound oxygenation an active field research regenerative medicine. This case report derives from a cohort patients enrolled previously published ongoing phase I trial (NCT03960164), assess safety...
The implementation of a colorectal cancer (CRC) screening programme may increase the awareness Primary Care Physicians, reduce diagnostic delay in CRC detected outside scope and thus improve prognosis.To determine effect on delays prognosis programme.We performed retrospective intervention study with pre-post design. We identified 322 patients incident confirmed pre-implantation cohort (June 2014 - May 2015) 285 post-implantation 2017 2018) Cancer Registry programme. In each patient we...