A5100451174- Metabolism and Genetic Disorders
- Biochemical Acid Research Studies
- Amino Acid Enzymes and Metabolism
- Epigenetics and DNA Methylation
- Cancer-related gene regulation
- Neonatal Health and Biochemistry
- Ion Transport and Channel Regulation
- ATP Synthase and ATPases Research
- Biochemical and Molecular Research
- Diet and metabolism studies
- Esophageal and GI Pathology
- RNA regulation and disease
- RNA Research and Splicing
- Sperm and Testicular Function
- Childhood Cancer Survivors' Quality of Life
- Vascular Anomalies and Treatments
- Folate and B Vitamins Research
- RNA modifications and cancer
- Renal and related cancers
- Fungal Biology and Applications
- Plant tissue culture and regeneration
- Aldose Reductase and Taurine
- Pharmaceutical studies and practices
- Tracheal and airway disorders
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
Centro Hospitalar de Trás os Montes e Alto Douro
2024
El Colegio de la Frontera Norte
2022
Tecnológico de Monterrey
2022
Autonomous University of Chihuahua
2022
Universidad de Guadalajara
2022
Autonomous University of Chiapas
2022
University of Lisbon
2008-2021
Abstract Background The pyruvate dehydrogenase complex (PDC) catalyzes the irreversible decarboxylation of into acetyl-CoA. PDC deficiency can be caused by alterations in any genes encoding its several subunits. resulting phenotype, though very heterogeneous, mainly affects central nervous system. aim this study is to describe and discuss clinical, biochemical genotypic information from thirteen deficient patients, thus seeking establish possible genotype–phenotype correlations. Results...
Galactose-1-phosphate uridylyltransferase (GALT) is a key enzyme in galactose metabolism, particularly important the neonatal period due to ingestion of galactose-containing milk. GALT deficiency results genetic disorder classic galactosemia, whose pathophysiology still not fully elucidated. Whereas galactosemia has been hypothesized result from misfolding, thorough functional-structural characterization most prevalent variants was lacking, hampering development alternative therapeutic...
Classic galactosemia is a rare genetic disease of the galactose metabolism, resulting from deficient activity galactose-1-phosphate uridylyltransferase (GALT). The current standard care lifelong dietary restriction galactose, which however fails to prevent development long-term complications. Structural-functional studies demonstrated that most prevalent GALT mutations give rise proteins with increased propensity aggregate in solution. Arginine known stabilizer aggregation-prone proteins,...
Human PDHA2 is a testis-specific gene that codes for the E(1)α subunit of Pyruvate Dehydrogenase Complex (PDC), crucial enzyme system in cell energy metabolism. Since activation somatic cells could be new therapeutic approach PDC deficiency, we aimed to identify regulatory mechanisms underlying human expression. Functional deletion studies revealed -122 -6 promoter region indispensable basal expression this TATA-less promoter, and suggested role an epigenetic program control Indeed,...
Abstract Background: Classic galactosemia is an autosomal recessive disorder of galactose metabolism caused by severely decreased activity galactose-1-phosphate uridylyltransferase (GALT) due to pathogenic mutations in the GALT gene. To date more than 330 have been described, with p.Q188R and p.K285N being most common Caucasian populations. Although acute manifestations can be fully avoided a galactose-restricted diet, chronic complications, such as neurological ones, cannot prevented...
It is essential to comprehend the clinical manifestations of hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome. This autosomal dominant vascular disorder presents with distinct symptoms, including mucocutaneous telangiectasia, epistaxis, gastrointestinal bleeding, and iron deficiency anemia. Furthermore, arteriovenous malformations (AVMs) commonly occur in pulmonary, hepatic, cerebral circulations. Hepatic involvement may be uncommon, depending on subtype...
O Complexo da Piruvato Desidrogenase (cPDH) constitui um sistema multienzimatico, localizado na matriz mitocondrial, que desempenha uma funcao crucial no metabolismo energetico celular ao catalisar, de modo irreversivel, a descarboxilacao oxidativa do piruvato acetil-Coenzima A, substrato essencial ciclo Krebs. cPDH e composto por seis subunidades: tres componentes cataliticos (Piruvato descarboxilase ou E, — constituido duas cadeias (3, di-hidrolipoamida transacetilase E,, dihidrolipoamida...
This article presents a dataset proving the simultaneous presence of 5'UTR-truncated PDHA1 mRNA and full-length PDHA2 in somatic cells PDC-deficient female patient all members her immediate family (parents brother). We have designed large set primer pairs order to perform detailed RT-PCR assays allowing clear identification both species cells. In addition, two different experimental approaches were used elucidate copy number gene mother. The interpretation discussion these data, along with...
Abstract Background : Pyruvate dehydrogenase complex (PDC) catalyzes the irreversible decarboxylation of pyruvate into acetyl-CoA which ultimately generates ATP. PDC deficiency can be caused by alterations in any genes encoding its several subunits, and resulting phenotype, though very heterogeneous, mainly affects neuro-encephalic system. The aim this study is to describe discuss clinic, metabolic genotypic profiles thirteen deficient patients, thus seeking establish possible...