A5102873400- Mitochondrial Function and Pathology
- Liver Diseases and Immunity
- Endoplasmic Reticulum Stress and Disease
- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Tumors and Oncological Cases
- Cleft Lip and Palate Research
- Pediatric Hepatobiliary Diseases and Treatments
- Congenital limb and hand anomalies
- Biochemical and Molecular Research
- ATP Synthase and ATPases Research
- Drug Transport and Resistance Mechanisms
Administração Regional de Saúde de Lisboa e Vale do Tejo
2024
University of Coimbra
2017
Hospitais da Universidade de Coimbra
2011
The biogenesis of the multi-subunit vacuolar-type H+-ATPase (V-ATPase) is initiated in endoplasmic reticulum with assembly proton pore V0, which controlled by a group factors. Here, we identify two hemizygous missense mutations extracellular domain accessory V-ATPase subunit ATP6AP2 (also known as [pro]renin receptor) responsible for glycosylation disorder liver disease, immunodeficiency, cutis laxa, and psychomotor impairment. We show that deficiency mouse caused hypoglycosylation serum...
Biallelic pathogenic variants in neuroblastoma-amplified sequence (NBAS) cause a pleiotropic multisystem disorder. Three clinical subgroups have been defined correlating with the localisation of NBAS gene: affecting C-terminal region result SOPH syndrome (short stature, optic atrophy, Pelger-Huët anomaly), Sec 39 domain are associated infantile liver failure type 2 (ILFS2) and ß-propeller give rise to combined phenotype. However, there is still unexplained phenotypic diversity across three...
Progressive familial intrahepatic cholestasis type 2 (PFIC2) is an autosomal recessive disorder typically presenting in infancy with and rapidly progressing to cirrhosis. PFIC has been associated elevated risk of hepatocellular carcinoma (HCC), a neoplasm that uncommon children. 4 the strongest link this cancer, although few cases have also connected PFIC2. Herein, we report case 2-year-old boy who underwent liver transplantation due Histological examination showed cirrhosis four small HCCs....