A5068452263- Alzheimer's disease research and treatments
- Bioinformatics and Genomic Networks
- Prion Diseases and Protein Misfolding
- Advanced Proteomics Techniques and Applications
- Protein Structure and Dynamics
- Cholinesterase and Neurodegenerative Diseases
- Neurological diseases and metabolism
- Gene expression and cancer classification
- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Knowledge Societies in the 21st Century
- Ubiquitin and proteasome pathways
- Computational Drug Discovery Methods
- Trace Elements in Health
- CCD and CMOS Imaging Sensors
- Machine Learning in Bioinformatics
Universidad de Antioquia
2014-2024
Alzheimer's disease (AD) is the most common cause of dementia in elderly, affecting over 50 million people worldwide 2020 and this number will triple to 152 by 2050. Much increase be developing countries like Colombia. In familial forms, highly penetrant mutations have been identified three genes, APP, PSEN1, PSEN2, supporting a role for amyloid-β peptide. sporadic more than 30 risk genes involved lipid metabolism, immune system, synaptic functioning mechanisms. We used whole-exome...
Alzheimer’s disease manifests itself in brain tissue by neuronal death, due to aggregation of β-amyloid, produced senile plaques, and hyperphosphorylation the tau protein, which produces neurofibrillary tangles. One genetic markers is gene that translates presenilin-2 has mutations favor appearance no reported crystallographic structure. In view this, protein modeling performed using prediction structural refinement tools followed an energetic stereochemical characterization for its...
Alzheimer’s disease pathology is characterized by β-amyloid plaques and neurofibrillary tangles. Amyloid precursor protein processed β γ secretase, resulting in the production of peptides with a length ranging from 38 to 43 amino acids. Presenilin 1 (PS1) catalytic unit γ-secretase, more than 200 PS1 pathogenic mutations have been identified as causative for disease. A complete monocrystal structure has not determined so far due presence two flexible domains. We developed structural model...
This report outlines the clinical features of a complex neurological phenotype shared by three siblings from consanguineous family, characterized intellectual disabilities, speech developmental delay, gait disturbance, cerebellar syndrome signs, cataracts, and dysmorphic (square coarse facial features, thick lips, deep palate, small spaced teeth, low-set ears, strabismus, eyelid ptosis, blond hair). Seizures brain atrophy were later evident. In cosegregation analysis, five family members 12...
Se presenta el caso de una mujer 64 años con un cuadro clínico ocho meses duración, consistente en deterioro motor y cognitivo, que progresó rápidamente. Recibió tratamiento quinacrina sin obtener beneficios falleció estado terminal, por choque séptico secundario a bronconeumonía broncoaspiración. El cerebro fue donado para investigación su estudio histopatológico reveló la presencia lesiones espongiformes, astrogliosis depósitos proteína priónica (PrPRes) confirmados Western blot. Todos...
Abstract Background Vascular pathology is a main contributor to Alzheimer’s disease (AD) progression and severity. We have previously characterized vascular in the PSEN1E280A Colombian kindred. In postmortem analyses we identified that occipital cortex (OC) most affected region by small vessel (SVD), including other cortical areas basal ganglia. Interestingly, frontal (FC) spared from tau protected cases, while OC not. Here study proteome of isolated vessels cortices identify differences...
Abstract Background We have described two cases with ∼ 30 years of delayed disease onset among carriers PSEN1 mutation E280A, suffering from familial Alzheimer’s (FAD). One case was homozygous for the ApoE Christchurch (hApoEch) mutation. This showed sparse hyperphosphorylated tau (pTau) pathology in several cortical areas. The second heterozygous RELN‐COLBOS and globally affected by severe pTau amyloid beta pathology, evidence localized cellular protection entorhinal cortex (EC). Here we...
Los cortes encefálicos en regiones anatómicas específicas, son claves para el entendimiento y descripción de algunas patologías relacionadas con enfermedades neurodegenerativas, procesamiento imágenes es un área emergente que permite la digitalización información, creación banco digital a partir las los encéfalo línea investigación del Neurobanco Grupo Neurociencias Antioquia. El software utilizado fue Agisoft© Metashape, cual se hace renderizado tridimensional fotos, ya clave conocer...