A5032943399- Peroxisome Proliferator-Activated Receptors
- RNA Research and Splicing
- Muscle Physiology and Disorders
- Cell Adhesion Molecules Research
- Ubiquitin and proteasome pathways
- Adipose Tissue and Metabolism
- RNA modifications and cancer
- Reproductive Physiology in Livestock
- Amyloidosis: Diagnosis, Treatment, Outcomes
- ATP Synthase and ATPases Research
- Fuel Cells and Related Materials
- Hereditary Neurological Disorders
- Neurogenetic and Muscular Disorders Research
- Cardiomyopathy and Myosin Studies
- Signaling Pathways in Disease
- Calpain Protease Function and Regulation
- Metabolism and Genetic Disorders
- Cancer, Hypoxia, and Metabolism
- Mitochondrial Function and Pathology
- Genomics and Rare Diseases
- Blood properties and coagulation
- Genetic and Kidney Cyst Diseases
- Reproductive biology and impacts on aquatic species
- Dermatological and Skeletal Disorders
- Neurological diseases and metabolism
University of Maine at Farmington
2024
Universidade Federal de Lavras
2024
Universidade do Porto
2002-2023
Hospital de Santo António
2023
Centro Hospitalar do Porto
2014-2019
Centro de Genética Clínica
2007-2018
National Institute of Health Dr. Ricardo Jorge
2012
Instituto de Biologia Molecular e Celular
2002-2006
Pex5p is the receptor for vast majority of peroxisomal matrix proteins. Here, we show that about 15% rat liver found in fraction representing 0.06% total protein. This population displays all characteristics an intrinsic membrane Protease protection assays indicate this pool has domains exposed on both sides membrane. The strong interaction with organelle not affected by mild protease treatment intact organelles, conditions result partial degradation Pex13p. Cytosolic a monomeric In...
According to current models of peroxisomal biogenesis, Pex5p cycles between the cytosol and peroxisome transporting newly synthesized proteins organelle matrix. However, little is known regarding mechanism this pathway. Here, we show that enters exits compartment in a process requires ATP. Insertion into membrane blocked by anti-Pex14p IgGs. At level, two Pex14p-associated populations could be resolved, stage 2 3 Pex5p, both exposing majority their masses lumen. Stage can easily detected...
Although many of the proteins involved in biogenesis mammalian peroxisome have already been identified, our knowledge architecture all this machinery is still very limited. In work we used native gel electrophoresis and sucrose gradient sedimentation analysis combination with immunoprecipitation experiments to address issue. After solubilization rat liver peroxisomes mild detergent digitonin, comigration Pex5p, Pex14p, a fraction Pex12p was observed upon sedimentation. The existence complex...
Congenital muscular dystrophy type 1A (MDC1A) is caused by mutations in the LAMA2 gene encoding laminin-alpha2. We describe molecular study of 26 patients with clinical presentation, magnetic resonance imaging and/or laminin-alpha2 expression muscle, compatible MDC1A. The combination full genomic sequencing and complementary DNA analysis led to particularly high mutation detection rate 96% (50/52 disease alleles). Besides 22 undocumented polymorphisms, 18 different were identified course...
Biogenesis of the mammalian peroxisomal membrane requires action Pex3p and Pex16p, two proteins present in organelle membrane, Pex19p, a protein that displays dual subcellular distribution (peroxisomal cytosolic). Pex19p interacts with most intrinsic proteins, but whether this property reflects its role as an import receptor for class or chaperone-like function assembly/disassembly has been subject much controversy. Here, we describe vitro system particularly suited to address issue. It is...
Myotubular myopathy (MIM#310400), the X-linked form of Centronuclear (CNM) is mainly characterized by neonatal hypotonia and inability to maintain unassisted respiration. The MTM1 gene, responsible for this disease, encodes myotubularin – a lipidic phosphatase involved in vesicle trafficking regulation maturation. Recently, it was shown that interacts with desmin, being major regulator intermediate filaments. We report development locus-specific database using Leiden Open Variation software...
Background: Congenital muscular dystrophy (CMD) type 1A (MDC1A) is caused by recessive mutations in laminin-α2 (LAMA2) gene. Laminin-211, a heterotrimeric glycoprotein that contains the α2 chain, crucial for muscle stability establishing bond be
While in most patients the identification of genetic alterations causing dystrophinopathies is a relatively straightforward task, significant number require genomic and transcriptomic approaches that go beyond routine diagnostic set-up. In this work, we present Becker Muscular Dystrophy patient with elevated creatinine kinase levels, progressive muscle weakness, mild intellectual disability biopsy showing dystrophic features irregular dystrophin labelling. Routine molecular techniques...