Search results for "fabry"
showing 10 items of 171 documents
Genotype–phenotype correlation in a new Fabry-disease-causing mutation
2019
Background: Fabry disease (FD) is a rare X-linked inherited lysosomal storage disorder caused by α-galactosidase A deficiency leading to intracellular glycosphingolipid accumulation. FD manifestation is multisystem, and can differ depending on disease-related genetic variants. Currently, more than 700 different FD-causing mutations have been identified in the human GLA gene. We identified a novel mutation in a Lithuanian family with classical manifestations of Fabry disease, revealing severe effects to the cardiovascular systems of heterozygous women. Case presentation: A 49-year-old woman underwent echocardiography due to progressive dyspnea that lasted seven years, reduced physical a…
Strategies for the production of difficult-to-express full-length eukaryotic proteins using microbial cell factories : production of human alpha-gala…
2015
This work was supported by ERANET-IB08-007 project from the European Union and its linked national project EUI2008- 03610 to AV. We also appreciate the support from EME2007-08 to NFM from Universitat Autonoma de Barcelona, from Antartide 2010 to MLT and EP, from MIUR Azioni Integrate Italia-Spagna 2010 Prot. IT10LECLM9 to MLT, from MINECO (IT2009-0021) to AV and LT, from AGAUR (2009SGR-108) to AV. AV is also supported by The Biomedical Research Networking Center in Bioengineering, Biomaterials and Nanomedicine (CIBER-BBN, Spain), an initiative funded by the VI National R&D&i Plan 2008-2011, Iniciativa Ingenio 2010, Consolider Program, CIBER Actions and financed by the Instituto de Salud Car…
Finely tunable laser based on a bulk silicon wafer for gas sensing applications
2016
In this work a very simple continuously tunable laser based on an erbium ring cavity and a silicon wafer is presented. This laser can be tuned with very fine steps, which is a compulsory characteristic for gas sensing applications. Moreover the laser is free of mode hopping within a spectral range sufficiently wide to match one of the ro-vibrational lines of a target molecule. Here the proposed laser reached, at ∼1530 nm, a continuous tuning range of around 950 pm (>100 GHz) before mode hopping occurred, when a silicon wafer of 355 μm thickness was used. Additionally, the laser can be finely tuned with small tuning steps of <12 pm, achieving a resolution of 84.6 pm °C-1 and by using a therm…
Pathogenesis and molecular mechanisms of anderson–fabry disease and possible new molecular addressed therapeutic strategies
2021
Anderson–Fabry disease (AFD) is a rare disease with an incidenceof approximately 1:117,000 male births. Lysosomal accumulation of globotriaosylceramide (Gb3) is the element characterizing Fabry disease due to a hereditary deficiency α-galactosidase A (GLA) enzyme. The accumulation of Gb3 causes lysosomal dysfunction that compromises cell signaling pathways. Deposition of sphingolipids occurs in the autonomic nervous system, dorsal root ganglia, kidney epithelial cells, vascular system cells, and myocardial cells, resulting in organ failure. This manuscript will review the molecular pathogenetic pathways involved in Anderson–Fabry disease and in its organ damage. Some studies reported that i…
Can Be miR-126-3p a Biomarker of Premature Aging? An Ex Vivo and In Vitro Study in Fabry Disease
2021
Fabry disease (FD) is a lysosomal storage disorder (LSD) characterized by lysosomal accumulation of glycosphingolipids in a wide variety of cytotypes, including endothelial cells (ECs). FD patients experience a significantly reduced life expectancy compared to the general population
Misdiagnosis of familial Mediterranean fever in patients with Anderson-Fabry disease
2013
Fabry disease (FD) is an underdiagnosed pathology due to its symptomatology that overlaps with various systemic and rheumatic disorders, including familial Mediterranean fever (FMF). We examined the Mediterranean fever (MEFV) and α-galactosidase A (GLA) genes, whose mutations are responsible for FMF and FD, respectively, in 42 unrelated patients diagnosed with FMF, which revealed significant ambiguity regarding some of the symptoms which are also present in FD. The objective of this study was to determine the spectrum of mutations present in these genes, in order to identify cases of mistaken diagnosis of FMF and/or missed diagnosis of FD. Ten out of 42 patients had one mutation in homozyg…
Estensione della definizione di Malattia di Fabry in base ai dati ottenuti dallo studio dell'attività enzimatica e degli aplotipi genetici
2011
La Malattia Di Anderson –Fabry
2008
Terapia Enzimatica Sostitutiva Della Malattia Di Fabry:Due Anni Di Esperienza
2004
Spectrochemical Rubidium-Strontium Method for Geological Age Determination
1960
The age values of lepidolites from South Africa and from Varutrask as well as that of a microcline from Varutrask have been determined and are discussed in connection with determination according to the potassium-argon method, applied to the same materials A method is suggested which allows the spectrochemical determination of Rb and Sr with sufficient accuracy. The isotopic composition is determined by means of a Fabry-Perot etalon and hollow-cathode excitation, investigating the hyper-fine structure of the Sr line at 4078 A.