Search results for "LEM"

Spectrum of mutations in Italian patients with familial hypercholesterolemia: New results from the LIPIGEN study

2017

Abstract Background Familial hypercholesterolemia (FH) is an autosomal dominant disease characterized by elevated plasma levels of LDL-cholesterol that confers an increased risk of premature atherosclerotic cardiovascular disease. Early identification and treatment of FH patients can improve prognosis and reduce the burden of cardiovascular mortality. Aim of this study was to perform the mutational analysis of FH patients identified through a collaboration of 20 Lipid Clinics in Italy (LIPIGEN Study). Methods We recruited 1592 individuals with a clinical diagnosis of definite or probable FH according to the Dutch Lipid Clinic Network criteria. We performed a parallel sequencing of the major…

Diabetes and Metabolism Disorders Medicinal Plants: A Glance at the Past and a Look to the Future 2018

2018

Oxidative stress modulates rearrangement of endoplasmic reticulum-mitochondria contacts and calcium dysregulation in a Friedreich's ataxia model

2020

Friedreich ataxia (FRDA) is a neurodegenerative disorder characterized by neuromuscular and neurological manifestations. It is caused by mutations in the FXN gene, which results in loss of the mitochondrial protein frataxin. Endoplasmic Reticulum-mitochondria associated membranes (MAMs) are inter-organelle structures involved in the regulation of essential cellular processes, including lipid metabolism and calcium signaling. In the present study, we have analyzed in both, unicellular and multicellular models of FRDA, calcium management and integrity of MAMs. We observed that function of MAMs is compromised in our cellular model of FRDA, which was improved upon treatment with antioxidants. I…

Autism and carnitine: A possible link

2019

Patients with autism spectrum disorders (ASD) present deficits in social interactions and communication, they also show limited and stereotypical patterns of behaviors and interests. The pathophysiological bases of ASD have not been defined yet. Many factors seem to be involved in the onset of this disorder. These include genetic and environmental factors, but autism is not linked to a single origin, only. Autism onset can be connected with various factors such as metabolic disorders: including carnitine deficiency. Carnitine is a derivative of two amino acid lysine and methionine. Carnitine is a cofactor for a large family of enzymes: the carnitine acyltransferases. Through their action th…

The cytoprotective protein MANF promotes neuronal survival independently from its role as a GRP78 cofactor

2021

Mesencephalic astrocyte-derived neurotrophic factor (MANF) is an endoplasmic reticulum (ER)-stress-regulated protein exhibiting cytoprotective properties through a poorly understood mechanism in various in vitro and in vivo models of neuronal and non-neuronal damage. Although initially characterized as a secreted neurotrophic factor for midbrain dopamine neurons, MANF has recently gained more interest for its intracellular role in regulating the ER homeostasis, including serving as a cofactor of the chaperone glucose-regulated protein 78 (GRP78). We aimed for a better understanding of the neuroprotective mechanisms of MANF. Here we show for the first time that MANF promotes the survival of …

Ochrobactrum sp. MPV1 from a dump of roasted pyrites can be exploited as bacterial catalyst for the biogenesis of selenium and tellurium nanoparticles

2017

Bacteria have developed different mechanisms for the transformation of metalloid oxyanions to non-toxic chemical forms. A number of bacterial isolates so far obtained in axenic culture has shown the ability to bioreduce selenite and tellurite to the elemental state in different conditions along with the formation of nanoparticles—both inside and outside the cells—characterized by a variety of morphological features. This reductive process can be considered of major importance for two reasons: firstly, toxic and soluble (i.e. bioavailable) compounds such as selenite and tellurite are converted to a less toxic chemical forms (i.e. zero valent state); secondly, chalcogen nanoparticles have att…

Biosynthesis of selenium-nanoparticles and -nanorods as a product of selenite bioconversion by the aerobic bacterium Rhodococcus aetherivorans BCP1

2018

The wide anthropogenic use of selenium compounds represents the major source of selenium pollution world- wide, causing environmental issues and health concerns. Microbe-based strategies for metal removal/recovery have received increasing interest thanks to the association of the microbial ability to detoxify toxic metal/ metalloid polluted environments with the production of nanomaterials. This study investigates the tolerance and the bioconversion of selenite (SeO32−) by the aerobically grown Actinomycete Rhodococcus aetherivorans BCP1 in association with its ability to produce selenium nanoparticles and nanorods (SeNPs and SeNRs). The BCP1 strain showed high tolerance towards SeO32− with…

Assembly, growth and conductive properties of tellurium nanorods produced by Rhodococcus aetherivorans BCP1

2018

AbstractTellurite (TeO32−) is a hazardous and toxic oxyanion for living organisms. However, several microorganisms can bioconvert TeO32− into the less toxic form of elemental tellurium (Te0). Here, Rhodococcus aetherivorans BCP1 resting (non-growing) cells showed the proficiency to produce tellurium-based nanoparticles (NPs) and nanorods (NRs) through the bioconversion of TeO32−, depending on the oxyanion initial concentration and time of cellular incubation. Te-nanostructures initially appeared in the cytoplasm of BCP1 cells as spherical NPs, which, as the exposure time increased, were converted into NRs. This observation suggested the existence of an intracellular mechanism of TeNRs assem…

Evolution of organic carbon pools and microbial diversity in hyperarid anthropogenic soils

2016

Abstract We investigated the organic carbon pools and the microbial diversity and activity in anthropogenic terraced soils in a desert area of Southern Peru to highlight how the introduction of agriculture influences carbon evolution and storage and genetic and functional diversity of soil microbiota over time. Five sites were selected considering soils cultivated since 5, 15, 20, 35 and 65 years, sampled along the profile depth (0–20 and 20–40 cm layer). Soil and microbial parameters comprised by organic carbon pools, microbial respiration, microbial community physiological profile (CLPP) and microbial diversity (PCR-DGGE) were determined. The results showed that the highest C concentratio…

Exotic Halophila stipulacea is an introduced carbon sink for the Eastern Mediterranean Sea.

2018

AbstractCarbon and nitrogen storage in exotic Halophila stipulacea were compared to that in native Posidonia oceanica and Cymodocea nodosa meadows and adjacent unvegetated sediments of the Eastern Mediterranean Sea and to that in native H. stipulacea of the Red Sea at sites with different biogeochemical conditions and level of human pressure. Exotic H. stipulacea possessed considerable storing capacity, with 2-fold higher Corg stock (0.71 ± 0.05 kg m−2 in the top 20 cm of sediment) and burial (14.78 gCorg m−2 y−1) than unvegetated areas and C. nodosa meadows and, surprisingly, comparable to P. oceanica. N (0.07 ± 0.01 kg m−2) and Cinorg (14.06 ± 8.02 kg m−2) stocks were similar between H. s…