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The inositol 1,4,5-triphosphate receptor type 1 (ITPR1) gene encodes an InsP3-gated calcium channel that modulates intracellular Ca2+ release and is particularly expressed in cerebellar Purkinje cells. Pathogenic variants in the ITPR1 gene are associated with different types of autosomal dominant spinocerebellar ataxia: SCA15 (adult onset), SCA29 (early-onset), and Gillespie syndrome. Cerebellar atrophy/hypoplasia is invariably detected, but a recognizable neuroradiological pattern has not been identified yet. With the aim of describing ITPR1-related neuroimaging findings, the brain MRI of 14 patients with ITPR1 variants (11 SCA29, 1 SCA15, and 2 Gillespie) were reviewed by expert neuroradiologists. To further evaluate the role of superior vermian and hemispheric cerebellar atrophy as a clue for the diagnosis of ITPR1-related conditions, the ITPR1 gene was sequenced in 5 patients with similar MRI pattern, detecting pathogenic variants in 4 of them. Considering the whole cohort, a distinctive neuroradiological pattern consisting in superior vermian and hemispheric cerebellar atrophy was identified in 83% patients with causative ITPR1 variants, suggesting this MRI finding could represent a hallmark for ITPR1-related disorders.  相似文献   
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The transient receptor potential ankyrin 1 (TRPA1), a member of the TRP superfamily of channels, is primarily localized in a subpopulation of primary sensory neurons of the trigeminal, vagal, and dorsal root ganglia, where its activation mediates neurogenic inflammatory responses. TRPA1 expression in resident tissue cells, inflammatory, and immune cells, through the indirect modulation of a large series of intracellular pathways, orchestrates a range of cellular processes, such as cytokine production, cell differentiation, and cytotoxicity. Therefore, the TRPA1 pathway has been proposed as a protective mechanism to detect and respond to harmful agents in various pathological conditions, including several inflammatory diseases. Specific attention has been paid to TRPA1 contribution to the transition of inflammation and immune responses from an early defensive response to a chronic pathological condition. In this view, TRPA1 antagonists may be regarded as beneficial tools for the treatment of inflammatory conditions.  相似文献   
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This article provides a systematic study of the impact of different thermal treatments (62 ± 2°C, without and with relative humidity control, 79%) on soy protein in defatted soy flour and their aqueous dispersions. The effect of dispersing treatments (magnetic stirring, high-speed, and high-pressure homogenization) on dispersions also was assessed. Changes in protein solubility (water and 0.2 g/100 g potassium hydroxide solution), apparent-reactive lysine content, urease and trypsin inhibitor activities, protein denaturation, and Fourier transform infrared spectra were studied. Glycosylation, aggregation, and denaturation of storage and biologically active soy proteins were observed in different degrees, being mainly promoted by the control of relative humidity and the dispersibility of the sample.  相似文献   
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Sacha inchi seed (SI) is known as a rich source of oil with high content of polyunsaturared fatty acids of the ω‐3 and ω‐6 type (~85% of total fatty acids). However, few studies have focused on the use of by‐products from the seed. The aim of this study was to characterise the main phenolic families present in SI shell and to evaluate the best extraction solvent for the extraction of phenolic compounds (PC) and antioxidant capacity (AOXC). The PC content corresponded to 74.5 ± 5.1 mg g?1 of which 93.1% were condensed tannins and the remaining compounds corresponded to free and bound phenolic acids, hydrolyzable tannins, flavonoids and flavanoids. Protocatechic and p‐coumaric acids but also hydroxycinammic acid derivatives of ferulic and o‐coumaric type and lignan derivatives were identified. Acetone containing solvents favoured the extraction of higher amounts of total PC and AOXC. This study highlights the potential use of SI shell as a novel and alternative source of PC antioxidants for the nutraceutical and/or functional food industries.  相似文献   
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This work aimed to incorporate prebiotic FOS from yacon in apple slices using vacuum impregnation (VI). Three FOS concentrations (10.3, 14.1 and 18.9 g per 100 g of dry matter (DM)), two temperatures (25 and 35 °C), reuse of extracts and stability of the impregnated slices were evaluated. The highest impregnation level (30.5 g per 100 g DM) was obtained at 35 °C with 14.1% FOS extract while levels of common sugars were reduced. Total phenolics and ABTS antioxidant capacity (AC) slightly decreased while ORAC AC was reduced by 55%. Reuse of the impregnation solution in successive cycles after restoring the FOS level maintained the FOS concentration and profile (GF2–GF7), sugars and phenolic antioxidants. FOS in apple slices remained stable during 4 week storage, while aw, colour and fracture point changed during storage. This work demonstrated the feasibility of yacon FOS to improve the functional properties of dehydrated apple slices.  相似文献   
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