A5043148285- Cellular transport and secretion
- Retinal Development and Disorders
- Mitochondrial Function and Pathology
- Genetic Neurodegenerative Diseases
- Cancer, Hypoxia, and Metabolism
- Parathyroid Disorders and Treatments
- Neurological diseases and metabolism
- Adipose Tissue and Metabolism
- Genomics and Rare Diseases
- Parkinson's Disease Mechanisms and Treatments
- Endoplasmic Reticulum Stress and Disease
- Autophagy in Disease and Therapy
- Biotin and Related Studies
- Genetics, Aging, and Longevity in Model Organisms
- Muscle Physiology and Disorders
- Hereditary Neurological Disorders
- Lipid Membrane Structure and Behavior
- Neurological disorders and treatments
- Bone health and treatments
- Metabolism, Diabetes, and Cancer
- Ubiquitin and proteasome pathways
- Bone and Dental Protein Studies
- Pancreatic function and diabetes
- Nuclear Receptors and Signaling
- Neuroendocrine Tumor Research Advances
University of Cambridge
2022-2024
i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto
2016-2019
Universidade do Porto
2016
Centro de Genética Clínica
2012
Instituto Português de Oncologia de Coimbra Francisco Gentil
1999
Abstract Mutations in DJ-1 (encoded by PARK7) are a very rare cause of early-onset recessive Parkinson’s disease. We describe patient with parkinsonism, starting at the age 22, poor response to levodopa and additional features progression (dystonia, pyramidal signs dementia), who died when he was 49 years old. The neuropathological study showed severe substantia nigra locus coeruleus neuronal loss, diffuse Lewy body pathology (Lewy bodies, aberrant neurites, grain-like structures, spheroids...
The in vitro oxygen microenvironment profoundly affects the capacity of cell cultures to model physiological and pathophysiological states. Cell culture is often considered be hyperoxic, but pericellular levels, which are affected by diffusivity consumption, rarely reported. Here, we provide evidence that several types actually experience local hypoxia, with important implications for metabolism function. We focused initially on adipocytes, as adipose tissue hypoxia frequently observed...
Secreted proteins fulfill a vast array of functions, including immunity, signaling, and extracellular matrix remodeling. In the trans-Golgi network, destined for constitutive secretion are sorted into post-Golgi carriers which fuse with plasma membrane. The molecular machinery involved is poorly understood. Here, we have used kinetic trafficking assays transient CRISPR-KO to study biosynthetic sorting from Golgi Depletion all canonical exocyst subunits causes cargo accumulation in carriers....
Abstract A Portuguese kindred with autosomal dominant isolated primary hyperparathyroidism (HPT) that was associated parathyroid adenomas and carcinomas investigated the aim of determining chromosomal location this gene, designated HPTPort. Leukocyte DNA from 9 affected 16 unaffected members 7 tumors 4 patients used in comparative genomic hybridization (CGH), tumor loss heterozygosity (LOH), family linkage studies. The CGH studies revealed abnormalities chromosomes 1 13, results LOH were...
Two recent papers by Szentgyörgyi et al. (http://doi.org/10.1083/jcb.202401167) and Pankiv (http://doi.org/10.1083/jcb.202408173) provide new insights into the roles of BEACH domain proteins in membrane trafficking cellular homeostasis. They explore which membranes they are recruited to, how recruited, potential coat-like functions these proteins.
Variants in CACNA1A that encodes the pore-forming α 1 -subunit of human voltage-gated Cav2.1 (P/Q-type) Ca 2+ channels cause several autosomal-dominant neurologic disorders, including familial hemiplegic migraine type 1, episodic ataxia 2, and spinocerebellar 6. To identify modifiers incoordination movement we performed a large-scale functional RNAi screen, using Caenorhabditis elegans strain CB55, which carries truncating mutation unc-2 gene, worm ortholog for CACNA1A. The screen was...
Parkinson disease (PD) is the second most common neurodegenerative disorder. Most cases of PD are sporadic, while 5-10% have a known genetic basis. Variants in PARK2 gene frequent cause autosomal recessive juvenile-onset PD. encodes parkin, multi-domain protein that functions as an ubiquitin E3 ligase. Numerous variants spanning all parkin domains been identified, although pathogenic relevance for several those remains unclear. In this study, we aimed to functionally characterize two...
ACBD3 is a protein localised to the Golgi apparatus and recruits other proteins, such as PI4KIIIβ, Golgi. However, mechanism through which itself recruited poorly understood. This study demonstrates there are two mechanisms for recruitment First, we identified that an MWT
SUMMARY Cell culture is generally considered to be hyperoxic. However, the importance of cellular oxygen consumption often underappreciated, with rates sufficient cause hypoxia at cell monolayers. We initially focused on cultured adipocytes as a terminally differentiated cell-type substantial support diverse functions. Under standard conditions, are hypoxic and highly glycolytic. Increasing diverted glucose flux toward mitochondria resulted in thousands gene expression changes that pointed...
Secreted proteins fulfil a vast array of different functions, including adaptive immunity, cell signalling and extracellular matrix remodelling. In the trans -Golgi network, destined for constitutive secretion are sorted into post-Golgi carriers which fuse with plasma membrane to deliver their contents space. The molecular machinery involved is poorly understood. Here, we have used kinetic trafficking assays transient CRISPR knock-outs study biosynthetic sorting route from Golgi apparatus...