A5072894125- Mitochondrial Function and Pathology
- Cardiomyopathy and Myosin Studies
- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
- Metabolism and Genetic Disorders
- Sexual Differentiation and Disorders
- Cardiovascular Effects of Exercise
- Congenital heart defects research
- Metalloenzymes and iron-sulfur proteins
- Muscle metabolism and nutrition
- Neonatal Health and Biochemistry
- Genetic Associations and Epidemiology
- Alcoholism and Thiamine Deficiency
- Fungal and yeast genetics research
- Genetic Neurodegenerative Diseases
- Sports injuries and prevention
- Glycosylation and Glycoproteins Research
- Chromosomal and Genetic Variations
- Neurogenetic and Muscular Disorders Research
- Williams Syndrome Research
- Cardiac pacing and defibrillation studies
- Diet and metabolism studies
- Renal and related cancers
- Prenatal Screening and Diagnostics
Hospital de Dona Estefânia
2017-2025
Universidade Nova de Lisboa
2025
Institute of Molecular Medicine
2024
Centro de Genética Clínica
2023
Hospital de Santa Marta
2023
Instituto de Medicina Molecular João Lobo Antunes
2023
Centro Hospitalar de Lisboa Central
2022-2023
University of Lisbon
2020
University of Tübingen
2017-2019
University of Aveiro
2014
Membrane contact sites between endoplasmic reticulum (ER) and mitochondria, mediated by the ER-mitochondria encounter structure (ERMES) complex, are critical for mitochondrial homeostasis cell growth. Defects in ERMES can, however, be bypassed point mutations endosomal protein Vps13 or overexpression of Mcp1. How this bypass operates remains unclear. Here we show that outer membrane Mcp1 functions same pathway as recruiting it to mitochondria promoting its association vacuole-mitochondria...
Loss of the endoplasmic reticulum (ER)-mitochondria encounter structure (ERMES) complex that resides in contact sites between yeast ER and mitochondria leads to impaired respiration; however, reason for is not clear. We find ERMES null mutants, there an increase level mRNAs encoding biosynthetic enzymes coenzyme Q6 (CoQ6), essential electron carrier mitochondrial respiratory chain. show mega complexes involved CoQ6 biosynthesis (CoQ synthomes) are destabilized mutants. This, turn, affects...
The application of whole-exome sequencing (WES) for diagnostic purposes has the potential to unravel secondary findings unrelated with primary reason testing. Some those might be high clinical utility and comprise disease-causing variants in genes, related lifethreatening clinically actionable diseases. Clarifying allelic frequencies such specific populations is a crucial step large-scale deployment genomic medicine. We analysed medically relevant 81 genes from American College Medical...
The application of whole-exome sequencing (WES) for diagnostic purposes has the potential to unravel secondary findings unrelated with primary reason testing. Some those might be high clinical utility and comprise disease-causing variants in genes, related life-threatening clinically actionable diseases. Clarifying allelic frequencies such specific populations is a crucial step large-scale deployment genomic medicine. We analysed medically relevant 81 genes from American College Medical...
Early-onset atrial fibrillation (AF) can be the manifestation of a genetic myopathy. However, specific identification mutation causing fibrosis is rare. We report case young patient with an asymptomatic AF, diagnosed during routine examination. The cardiac MRI revealed extensive and electrophysiology study showed areas low voltage. investigation identified homozygous pathogenic variant in NPPA gene index presence heterozygosity both parents.
Microdeletions at 1q43-q44 have been described as resulting in a clinically recognizable phenotype of intellectual disability (ID), facial dysmorphisms and microcephaly (MIC). In contrast, the reciprocal microduplications region less frequently reported patients showed variable phenotype, including macrocephaly. Reports large number with copy variations involving this highlighted AKT3 gene likely key player head size anomalies. We report four novel region: one larger deletion (3.7Mb), two...
High resolution genome-wide copy number analysis, routinely used in clinical diagnosis for several years, retrieves new and extremely rare variations (CNVs) that provide novel candidate genes contributing to disease etiology. The aim of this work was identify genetic causes neurodevelopmental disease, inferred from CNVs detected by array comparative hybridization (aCGH), a cohort 325 Portuguese patients with intellectual disability (ID). We have 30.1% the patients, which 5.2% corresponded...
Neurodevelopmental disorders are a group of clinical and genetic heterogeneous diseases characterized by impaired brain development, affecting personal, social, academic, or occupational functioning. Next-Generation Sequencing advent has allowed to unravel new diagnosis