Search results for "Gb3"
showing 10 items of 24 documents
An annotated checklist and bibliography of the diaptomidae (copepoda, calanoida) of Italy, Corsica, and the maltese islands
2021
Calanoids of the family Diaptomidae are the most widespread copepods in the lentic inland waters of the Palearctic region. In Italy, studies on the family date back to the end of 19th century. Since then, several papers contributed to increasing the knowledge on their presence, distribution, and ecological preferences. Nevertheless, new records for the area and the discovery of putative new species stress that the current knowledge on these inland water crustaceans is still far from being exhaustive. This paper presents an updated and annotated checklist and bibliography of the Diaptomidae of the Italian peninsula and surrounding islands, including Corsica and the Maltese islands, compiled …
Unexpected increases in rotifer resting egg abundances during the period of contamination of Lake Orta
2016
<p>Despite their ecological importance and rapid response to environmental changes, rotifers are rarely included in palaeolimnological studies. Here, we describe changes in abundance (ABD) and morphotype (MTs) diversity of rotifer resting eggs in the sediments of deep subalpine Lake Orta, Italy, covering a period prior to (pre-) 1926, during long-term ammonia and metal pollution from a rayon factory, and subsequent recovery of water quality. Following the pollution and bacterial oxidation of the ammonia, Lake Orta became the largest and deepest acid lake in Europe. Recovery of water quality followed both a ban on the discharge of industrial wastes, and a liming intervention in 1989 an…
Are there so many congeneric species of chironomid larvae in a small stream?
2018
The co-occurrence of larvae of congeneric chironomid species is common in natural stream assemblages, and raises the problem of finding mechanisms to explain the co-existence of species with similar ecological requirements. In this contribution, we explored the co-occurrence of chironomid larvae belonging to congeneric species within four genera of chironomids: Cricotopus, Eukiefferiella, Orthocladius and Rheocricotopus (with 2, 7, 2 and 4 species, respectively) in the headwaters of a small Mediterranean calcareous stream. Due to the intrinsic, natural spatial and temporal variability in these habitats, we studied three different sites at two different seasons within the annual hydrological…
Evaluation of an amino acid residue critical for the specificity and activity of human Gb3/CD77 synthase
2016
Human Gb3/CD77 synthase (α1,4-galactosyltransferase) is the only known glycosyltransferase that changes acceptor specificity because of a point mutation. The enzyme, encoded by A4GALT locus, is responsible for biosynthesis of Gal(α1–4)Gal moiety in Gb3 (CD77, Pk antigen) and P1 glycosphingolipids. We showed before that a single nucleotide substitution c.631C > G in the open reading frame of A4GALT, resulting in replacement of glutamine with glutamic acid at position 211 (substitution p. Q211E), broadens the enzyme acceptor specificity, so it can not only attach galactose to another galactose but also to N-acetylgalactosamine. The latter reaction leads to synthesis of NOR antigens, which are…
Mutations in the GLA Gene and LysoGb3: Is It Really Anderson-Fabry Disease?
2018
Anderson-Fabry disease (FD) is a rare, progressive, multisystem storage disorder caused by the partial or total deficit of the lysosomal enzyme &alpha
Biomarkers in Anderson–Fabry Disease
2020
Fabry disease is a rare lysosomal storage disorder caused by a deficiency of α-galactosidase A, resulting in multisystemic involvement. Lyso-Gb3 (globotriaosylsphingosine), the deacylated form of Gb3, is currently measured in plasma as a biomarker of classic Fabry disease. Intensive research of biomarkers has been conducted over the years, in order to detect novel markers that may potentially be used in clinical practice as a screening tool, in the context of the diagnostic process and as an indicator of response to treatment. An interesting field of application of such biomarkers is the management of female heterozygotes who present difficulty in predictable clinical progression. This revi…
Oxidative stress biomarkers in Fabry disease: is there a room for them?
2020
Abstract Background Fabry disease (FD) is an X-linked lysosomal storage disorder, caused by deficient activity of the alpha-galactosidase A enzyme leading to progressive and multisystemic accumulation of globotriaosylceramide. Recent data point toward oxidative stress signalling which could play an important role in both pathophysiology and disease progression. Methods We have examined oxidative stress biomarkers [Advanced Oxidation Protein Products (AOPP), Ferric Reducing Antioxidant Power (FRAP), thiolic groups] in blood samples from 60 patients and 77 healthy controls. Results AOPP levels were higher in patients than in controls (p < 0.00001) and patients presented decreased levels of…
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia
2005
Contains fulltext : 47591.pdf (Publisher’s version ) (Closed access) Achromatopsia is a congenital, autosomal recessively inherited disorder characterized by a lack of color discrimination, low visual acuity (<0.2), photophobia, and nystagmus. Mutations in the genes for CNGA3, CNGB3, and GNAT2 have been associated with this disorder. Here, we analyzed the spectrum and prevalence of CNGB3 gene mutations in a cohort of 341 independent patients with achromatopsia. In 163 patients, CNGB3 mutations could be identified. A total of 105 achromats carried apparent homozygous mutations, 44 were compound (double) heterozygotes, and 14 patients had only a single mutant allele. The derived CNGB3 mutatio…
Carbon stable isotope composition of charophyte organic matter in a small and shallow Spanish water body as a baseline for future trophic studies
2015
<p>Quantitative descriptions of foodweb structure based on isotope niche space require knowledge of producers’ isotopic signatures. In freshwater ecosystems charophytes are one of the main components of submerged vegetation and the feeding base for many herbivorous consumers, but knowledge about their organic carbon isotopic signatures is sparse. In this study, the δ<sup>13</sup>C organic values (and organic %C and %N) of the four species of submerged macrophytes (three charophytes - <em>Chara hispida</em>, <em>Nitella hyalina</em> and <em>Tolypella glomerata </em>- and one angiosperm, <em>Myriophyllum spicatum</em>) growing …
Broad spectrum of Fabry disease manifestation in an extended Spanish family with a new deletion in the GLA gene
2012
Background. Fabry disease (FD) is an X-linked inherited disease based on the absence or reduction of lysosomal-galactosidase (Gla) activity. The enzymatic defect results in progressive impairment of cerebrovascular, renal and cardiac function. Normally, female heterozygote mutation carriers are less strongly affected than male hemizygotes aggravating disease diagnosis. Method. Close examination of the patients by renal biopsy, echo- and electrocardiography and MRI. Blood work and subsequent DNA analysis were carried out utilizing approved protocols for PCR and Sequencing. MLPA analysis was done to unveil deletions within the GLA gene locus. Quantitative detection of Glycolipids in patient p…