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  • 1
    Online Resource
    Online Resource
    〈b〉〈i〉BEND4〈/i〉〈/b〉 as a Candidate Gene for an Infection-Induced Acute Encephalopathy Characterized by a Cyst and Calcification of the Pons and Cerebellar Atrophy
    S. Karger AG ; 2022
    In:  Molecular Syndromology Vol. 13, No. 1 ( 2022), p. 12-22
    Details
    In: Molecular Syndromology, S. Karger AG, Vol. 13, No. 1 ( 2022), p. 12-22
    Abstract: Three siblings born to Turkish parents from the same village had normal brain development until acute neurological deterioration between 12 months and 8 years of age. Consequent loss of all acquired motor, social, and language functions following infections was associated with a pontine cyst, calcification, and cerebellar atrophy. Exome sequencing revealed a homozygous c.1297G & #x3e;A (p.Gly433Ser) alteration in 〈 i 〉 BEND4 〈 /i 〉 , which was predicted to be deleterious in in silico analysis tools and segregated in multiple affected individuals in the family. 〈 i 〉 BEND4 〈 /i 〉 has not been associated with any existing disease. Immunofluorescence microscopy analysis of wild-type and mutant BEND4 expressing Vero cells showed nuclear and cytoplasmic localization. Wild-type BEND4 displayed a network-like distribution, whereas mutant BEND4 showed a juxtanuclear distribution pattern. Differential proteome analysis of Vero cells expressing BEND4 revealed that mutant BEND4 expression caused selective increase in reticulocalbin-1 and endoplasmic reticulum resident protein-29. Both proteins are associated with the endoplasmic reticulum and are primarily involved in protein processing and folding pathways. Any defect or stress in protein folding creates stress on cells and may cause chronic damage. This is the first study showing that pathogenic 〈 i 〉 BEND4 〈 /i 〉 variants may lead to an infection-induced acute necrotizing encephalopathy as demonstrated in characteristic neuroimaging findings.
    Type of Medium: Online Resource
    ISSN: 1661-8769 , 1661-8777
    URL: Article
    DOI: 10.1159/000517541
    Language: English
    Publisher: S. Karger AG
    Publication Date: 2022
    detail.hit.zdb_id: 2546218-0
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  • 2
    Online Resource
    Online Resource
    Improved Production of Highly Active and Pure Human Creatine Kinase MB
    S. Karger AG ; 2018
    In:  Microbial Physiology Vol. 28, No. 1 ( 2018), p. 28-36
    Details
    In: Microbial Physiology, S. Karger AG, Vol. 28, No. 1 ( 2018), p. 28-36
    Abstract: Human creatine kinase MB (hCKMB) is one of the most preferred biomarkers used for the diagnosis of acute coronary syndrome due to its high sensitivity and specificity. The increasing need for highly purified and biologically active hCKMB in the field of diagnostics makes its production valuable. Currently, the production of hCKMB is mainly achieved in methylotrophic yeast, 〈 i 〉 Pichia pastoris 〈 /i 〉 , because the production in 〈 i 〉 Escherichia coli 〈 /i 〉 is challenging and generally yields an inactive enzyme with a low quantity. With the aim of finding the best way for the high-yield production of active hCKMB in 〈 i 〉 E. coli 〈 /i 〉 , an efficient strategy was developed using a construct allowing tandem expression of each subunit with 2 different tags. The strategy allowed the efficient expression and separate characterization of each subunit and 1-step purification of the heterodimeric protein into homogeneity. The heterodimeric protein displayed more than 11-fold greater specific activity than the commercially available one. The production strategy described in this study shows a clear advantage over the currently used ones and can be made available not only for laboratory scale production but also for commercial production. Our study is also a well-suited example for the studies in which novel protein expression strategies are needed to achieve greater yields with higher purities.
    Type of Medium: Online Resource
    ISSN: 2673-1665 , 2673-1673
    URL: Article
    DOI: 10.1159/000486716
    Language: English
    Publisher: S. Karger AG
    Publication Date: 2018
    detail.hit.zdb_id: 3042601-7
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  • 3
    Online Resource
    Online Resource
    Proteomic Analysis of m.8296A>G Variation in the Mitochondrial 〈b〉〈i〉tRNA〈/i〉〈/b〉〈sup〉Lys〈/sup〉 Gene
    S. Karger AG ; 2022
    In:  Molecular Syndromology
    Details
    In: Molecular Syndromology, S. Karger AG
    Abstract: Variation in the mitochondrial 〈 i 〉 tRNA 〈 /i 〉 〈 sup 〉 〈 i 〉 Lys 〈 /i 〉 〈 /sup 〉 gene at position 8296 was previously found to be associated with maternally inherited diabetes mellitus and deafness, hypertrophic cardiomyopathy, myoclonic epilepsy with ragged-red fibers and mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes. The pathogenicity of the m.8296A & #x3e;G variation is unclear. In this study, we aimed to analyze the mitochondrial proteome in a patient with m.8296A & #x3e;G variation to elucidate the effects of this mutation at the protein level. Whole-exome sequencing and mitochondrial genome analysis were performed in a patient with sensorineural hearing impairment, cognitive impairment, leukodystrophy, migraine-like headaches, and gastrointestinal dysmotility. Mitochondrial genome analysis identified a homoplasmic m.8296A & #x3e;G variation in the mitochondrial 〈 i 〉 tRNA 〈 /i 〉 〈 sup 〉 〈 i 〉 Lys 〈 /i 〉 〈 /sup 〉 gene in the proband and unaffected mother. Global mitochondrial proteome analysis was carried out in the muscle mitochondria of the index patient and a control subject. Comparative muscle mitochondrial proteome analysis revealed a total of 13 nuclear-encoded mitochondrial proteins differently expressed with respect to the control. Ten of the 13 proteins were downregulated. Most of the proteins were involved in ATP synthesis and Krebs cycle and have strong interactions with each other. We considered the m.8296A & #x3e;G variation to be pathogenic with variable penetrance for our patient’s phenotype, and this variation led to different expressions of nuclear-encoded proteins involved in energy metabolism.
    Type of Medium: Online Resource
    ISSN: 1661-8769 , 1661-8777
    URL: Article
    DOI: 10.1159/000519526
    Language: English
    Publisher: S. Karger AG
    Publication Date: 2022
    detail.hit.zdb_id: 2546218-0
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  • 4
    Online Resource
    Online Resource
    Comparative Proteome Analyses of Ureteropelvic Junction Obstruction and Surrounding Ureteral Tissue
    S. Karger AG ; 2020
    In:  Cells Tissues Organs Vol. 209, No. 1 ( 2020), p. 2-12
    Details
    In: Cells Tissues Organs, S. Karger AG, Vol. 209, No. 1 ( 2020), p. 2-12
    Abstract: Ureteropelvic junction (UPJ) obstruction is a common problem in children, but its etiology remains unclear. In this study, the proteome profiles of the obstructed segment and its surrounding distal and proximal parts were comparatively evaluated. Twelve children younger than 2 years of age with unilateral intrinsic UPJ obstruction were included. The excised operational tissue was divided into three parts immediately after resection: the obstructed part (Obst), the distal normal ureteral part (Dist), and the proximal part of the obstructed segment (Prox). Proteins extracted from the tissue samples were subjected to two-dimensional gel electrophoresis analysis to identify differentially regulated proteins. Spot analysis revealed that four proteins, namely tropomyosin beta and alpha-1 chains, actin and desmin, were upregulated in Obst in comparison to Dist. A similar analysis between Obst and Prox showed that heat shock protein beta-1 and carbonic anhydrase-1 were upregulated in Obst, while tropomyosin alpha 3 chain and ATP synthase beta were upregulated in Prox. The last comparative analysis between Dist and Prox revealed upregulation of annexin-A5 and annexin-A1 in Dist and vimentin, mitochondrial ATP synthase subunit-beta, peroxiredoxin-2, and apolipoprotein-A1 in Prox. Bioinformatics analysis using the STRING server indicated that the differentially regulated proteins, altogether, point to the changes occurring in muscle filament sliding pathway. When regulations occurring in each group were mutually compared, a change in lipase inhibition activity was detected by STRING. This is the first study scrutinizing changes occurring in protein profiles in UPJ.
    Type of Medium: Online Resource
    ISSN: 1422-6405 , 1422-6421
    URL: Article
    DOI: 10.1159/000506736
    Language: English
    Publisher: S. Karger AG
    Publication Date: 2020
    detail.hit.zdb_id: 1481840-1
    SSG: 12
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