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Collodion baby and harlequin ichthyosis
Published in Biju Vasudevan, Rajesh Verma, Dermatological Emergencies, 2019
D. V. Lakshmi, Sahana M. Srinivas
The pathogenesis of the disease is attributed to structural and functional default of keratin, filaggrin, and the lamellar body. These are the main elements of the stratum corneum. Abnormal localization of epidermal lipids, abnormalities of keratinocyte nuclei, and distorted ultrastructure of lamellar granules lead to hyperkeratosis with hypergranulosis and parakeratosis of the epidermis, suggesting that the process of terminal differentiation is incomplete [22]. Alterations in protein phosphatase activity and calcium-mediated signaling are also implicated [23,24]. The causative genes were filaggrin, claudins, PP2A, and calpain 1 for the array of cellular phenotypes in HI. Also, in another study, the occurrence of serine-threonine protein phosphatase enzyme deficiency related to protein phosphatase gene mutations localized on the 11th chromosome were noted as another possible cause of this disease [24].
Micronutrients for the Prevention and Improvement of the Standard Therapy for Parkinson’s Disease
Published in Kedar N. Prasad, Micronutrients in Health and Disease, 2019
Downregulation of the expression of miR-124 was reduced the levels of its target protein Bim, a proapoptotic protein of Bcl2 family, and induced neurodegeneration in the MPTP mouse model of PD.94 The treatment with miR-124 agomir (a synthetic miR-124) protected DA neurons against MPTP-induced toxicity by decreasing the level of Bim. Another protein target for miR-124 was calpain 1, a calcium-dependent non-lysosomal cysteine proteases. MPTP treatment caused death of dopaminergic neurons by decreasing the expression of miR-124 and increasing the levels of calpain1.95 Overexpression of miR-124 decreased the levels of calpain1 and improved the survival of neurons. Silencing miR-124 increased production of reactive oxygen species (ROS) and hydrogen peroxide (H2O2). The results suggest that one microRNA targets more than one mRNAs.
Effects of 6-(Methylsulfinyl)hexyl Isothiocyanate Ingestion on Muscle Damage after Eccentric Exercise in Healthy Males: A Pilot Placebo-Controlled Double-Blind Crossover Study
Published in Journal of Dietary Supplements, 2022
Yoko Tanabe, Nobuhiko Akazawa, Mio Nishimaki, Kazuhiro Shimizu, Naoto Fujii, Hideyuki Takahashi
The present study has several limitations. First, our study rationale regarding the effect of 6-MSITC on calpain levels relies on results provided in a patent application only (18). To the best of our knowledge, there is no peer-reviewed published research article that assessed this effect. Second, our sample size of eight might be insufficient to detect significant differences. Third, we assessed calpain-1 levels from blood samples. Given that calpain-1 is ubiquitously expressed throughout the body, the measured calpain-1 levels in this study might not purely reflect that in skeletal muscles. Fourth, we did not assess calpastatin, an endogenous selective inhibitor of calpain, which is involved in the regulation of calpain activity (41). Had we assessed calpastatin, we could have been able to delineate how 6-MSITC influenced the regulation of calpain activity. Fifth, the diet during the experiment was not strictly controlled, which might have influenced our results. Sixth, we did not assess the acute effect of 6-MSITC (e.g. after <24 h). Despite several limitations, it is noteworthy highlighting that the present study was well conducted with appropriate methods and design (e.g. a randomized, double-blind, crossover design). Therefore, data obtained in the present study is highly reliable and valuable.
CAPN1 and hereditary spastic paraplegia: a novel variant in an Iranian family and overview of the genotype-phenotype correlation
Published in International Journal of Neuroscience, 2021
Mohammad Masoud Rahimi Bidgoli, Leila Javanparast, Mohammad Rohani, Hossein Najmabadi, Babak Zamani, Afagh Alavi
For the first time, the mutation in calpain-1 was reported in the Parson Russell Terrier dog breed with spinocerebellar ataxia (SCA) [39]. Then, homozygous or compound heterozygous mutations of CAPN1 in humans with limb spasticity and cerebellar ataxia were reported in 2016 [23,27] (Table 1). Functional studies in animal models confirmed that calpain-1 plays roles in synaptic plasticity, axon maturation, and maintenance. It was also revealed, the calpain-1 is generally neuroprotective and required for the induction of long-term potentiation [23]. RNAi knockdown of the orthologues of CAPN1, in C. elegans (clp-1), and D. melanogaster (calpain B) was resulted in age-dependent paralysis due to degeneration of GABAergic motor neurons and negative geotaxis, respectively [23]. In Danio rerio (zebrafish) embryos, knockdown of the CAPN1 orthologue (calpain 1a) caused microtubule disorganization and disruption of the brain and to a lesser extent, the spinal cord development [23]. Whereas, CAPN1 knockout mice had abnormal cerebellar development and manifested mild ataxia. Cerebellar abnormality in these mice was due to enhanced neuronal apoptosis, decreased number of cerebellar granule cells, and altered synaptic transmission [27]. These studies indicated that the loss of function of CAPN1 is associated with neurodegeneration and motor impairment.
The role of cystatin C as a proteasome inhibitor in multiple myeloma
Published in Hematology, 2020
Yijing Jiang, Jie Zhang, Chenlu Zhang, Lemin Hong, Yuwen Jiang, Ling Lu, Hongming Huang, Dan Guo
It is generally accepted that active osteoclasts must form actin rings and that the fusion of TRACP+ monocyte to form multinuclear cells plays an essential role in osteoclast formation [38]. Hcy stimulates the formation of actin rings and some osteoclasts with multiple nuclei [36]. Per Moshal et al., Hcy binding to the N-methyl-D-aspartate receptor (NMDA-R) leads to increased intracellular Ca2+, which could upregulate Calpain-1 activity. Subsequently, the activation of matrix metalloproteinases (MMPs) occurs via the Calpain-1-ROS axis, and MMPs enter the extracellular matrix (ECM), leading to collagen matrix degradation [39,40]. Hcy also decreases proteoglycan content and reduces the formation of pyridinoline and deoxypyridinoline cross-links, which directly alters the matrix organization [41]. As a result, a change in the matrix structure inhibits the mineralization of chondrocytes.