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metabolizing enzymes defects

Ting Zhang, Ping Feng, Yunfeng Li, Peng Yu, Guoling Yu, Xianchun Sang, Yinghua Ling, Xiaoqin Zeng, Yidan Li, Junyang Huang, Tianquan Zhang, Fangming Zhao, Nan Wang, Changwei Zhang, Zhenglin Yang, Renhong Wu, Guanghua He
The de novo synthesis of purine nucleotides is crucial to all living organisms, but limited information is available for plants. In this study, we isolated a virescent-albino leaf 1 (val1) mutant of rice (Oryza sativa) that produces dynamic green-revertible albino and narrow-leaf phenotypes. In albino leaves, chloroplast development was defective, pigment contents were reduced, and cell division was impaired compared with the wild-type. Map-based cloning revealed that VAL1 encodes a phosphoribosylamine-glycine ligase (PurD), the second enzyme in the de novo purine biosynthesis pathway...
August 8, 2018: Journal of Experimental Botany
Mari Kishibe, Hiroyoshi Nozaki, Mizue Fujii, Shin Iinuma, Sawa Ohtsubo, Satomi Igawa, Kyoko Kanno, Masaru Honma, Kan Kishibe, Kensaku Okamoto, Akemi Ishida-Yamamoto
Azathioprine (AZA)-metabolizing enzyme gene polymorphism is strongly related to thiopurine-induced leukocytopenia, which has not been well recognized in dermatological practice. We tried to see whether NUDT15 gene polymorphism can be the most susceptible genetic factor for AZA toxicity and the gene screening is beneficial to avoid the adverse events of AZA for the treatment of skin diseases. A retrospective study was carried out on 15 adult Japanese patients who were treated with AZA. Gene polymorphism of thiopurine-metabolizing enzymes NUDT15 R139C, ITPA 94C>A, TPMT*2, TPMT*3B and TPMT*3C was analyzed...
August 13, 2018: Journal of Dermatology
Sunny Sharma, Johannes David Hartmann, Peter Watzinger, Arvid Klepper, Christian Peifer, Peter Kötter, Denis L J Lafontaine, Karl-Dieter Entian
The entire chemical modification repertoire of yeast ribosomal RNAs and the enzymes responsible for it have recently been identified. Nonetheless, in most cases the precise roles played by these chemical modifications in ribosome structure, function and regulation remain totally unclear. Previously, we demonstrated that yeast Rrp8 methylates m1 A645 of 25S rRNA in yeast. Here, using mung bean nuclease protection assays in combination with quantitative RP-HPLC and primer extension, we report that 25S/28S rRNA of S...
August 9, 2018: Scientific Reports
Ai Peng Tan, Fabrício Guimarães Gonçalves, Abeer Almehdar, Bruno Passebon Soares
Peroxisomes play vital roles in a broad spectrum of cellular metabolic pathways. Defects in genes encoding peroxisomal proteins can result in a wide array of disorders, depending upon the metabolic pathways affected. These disorders can be broadly classified into 2 main groups; peroxisome biogenesis disorders (PBDs) and single peroxisomal enzyme deficiencies. Peroxisomal enzyme deficiencies are result of dysfunction of a specific metabolic pathway, while PBDs are due to generalized peroxisomal dysfunction. Mutations in PEX1 gene are the most common cause of PBDs, accounting for two-thirds of cases...
August 2018: Topics in Magnetic Resonance Imaging: TMRI
Long Zhang, Linglong Zhao, Lingshang Lin, Lingxiao Zhao, Qiaoquan Liu, Cunxu Wei
Starch, as a main energy storage substance, plays an important role in plant growth and human life. Despite the fact that several enzymes and regulators involved in starch biosynthesis have been identified, the regulating mechanism of starch synthesis is still unclear. In this study, we isolated a rice floury endosperm mutant M14 from a mutant pool induced by 60 Co. Both total starch content and amylose content in M14 seeds significantly decreased, and starch thermal and pasting properties changed. Compound starch granules were defected in the floury endosperm of M14 seeds...
August 2, 2018: International Journal of Molecular Sciences
Xiangyu Zhou, Mengjia Xu, Weijia Zeng, Zhongzhong Chen, Guohui Lu, Yun Gong, Richard H Finnell, Huasheng Xiao, Bin Qiao, Hongyan Wang
Primary malignant cardiac tumors (PMCTs) are extremely rare. The apparent immunity of the heart to invasive cancer has attracted considerable interest given the continuously rising incidence of cancer in other organs. This study aims to determine the conditions that could result in cardiac carcinoma and expand our understanding of cardiac tumor occurrence. We report two cases: a male (Patient-1) with primary cardiac malignant fibrous histiocytoma (MFH) and a female (Patient-2) with primary cardiac angiosarcoma...
2018: Cell Death Discovery
Giovanni D'Angelo, Sitapriya Moorthi, Chiara Luberto
Sphingomyelin (SM) biosynthesis represents a complex, finely regulated process, mostly occurring in vertebrates. It is intimately linked to lipid transport and it is ultimately carried out by two enzymes, SM synthase 1 and 2, selectively localized in the Golgi and plasma membrane. In the course of the SM biosynthetic reaction, various lipids are metabolized. Because these lipids have both structural and signaling functions, the SM biosynthetic process has the potential to affect diverse important cellular processes (such as cell proliferation, cell survival, and migration)...
2018: Advances in Cancer Research
Przemysław A Niewiński, Robert Wojciechowski, Marek Śliwiński, Magdalena E Hurkacz, Krystyna Głowacka, Krystyna Orzechowska-Juzwenko, Anna K Wiela-Hojeńska
BACKGROUND: Postoperative nausea and vomiting (PONV) is a common complication after anesthesia and surgery. Ondansetron is one of the most widely used drugs in the prophylaxis of PONV and is extensively metabolized in humans. In vitro metabolism studies have shown that ondansetron is a substrate for human hepatic cytochrome P450 enzymes. The cytochrome P450 (human hepatic cytochrome [CYP]) 2D6 inhibitor quinidine reduced in vitro hydroxylation of ondansetron, which indicates the important role of CYP2D6 in ondansetron metabolism...
July 30, 2018: Advances in Clinical and Experimental Medicine: Official Organ Wroclaw Medical University
Yajing Peng, Samantha L Shapiro, Varuna C Banduseela, Inca A Dieterich, Kyle J Hewitt, Emery H Bresnick, Guangyao Kong, Jing Zhang, Kathryn L Schueler, Mark P Keller, Alan D Attie, Timothy A Hacker, Ruth Sullivan, Elle Kielar-Grevstad, Sebastian I Arriola Apelo, Dudley W Lamming, Rozalyn M Anderson, Luigi Puglielli
The membrane transporter AT-1/SLC33A1 translocates cytosolic acetyl-CoA into the lumen of the endoplasmic reticulum (ER), participating in quality control mechanisms within the secretory pathway. Mutations and duplication events in AT-1/SLC33A1 are highly pleiotropic and have been linked to diseases such as spastic paraplegia, developmental delay, autism spectrum disorder, intellectual disability, propensity to seizures, and dysmorphism. Despite these known associations, the biology of this key transporter is only beginning to be uncovered...
July 27, 2018: Aging Cell
Wataru Nomura, Miho Aoki, Yoshiharu Inoue
Dihydroxyacetone (DHA) is the smallest ketotriose, and it is utilized by many organisms as an energy source. However, at higher concentrations, DHA becomes toxic toward several organisms including the budding yeast Saccharomyces cerevisiae In the present study, we show that DHA toxicity is due to its spontaneous conversion to methylglyoxal (MG) within yeast cells. A mutant defective in MG metabolizing enzymes ( glo1 ∆ gre2 ∆ gre3 ∆) exhibited higher susceptibility to DHA. Intracellular MG levels increased following the treatment of glo1 ∆ gre2 ∆ gre3 ∆ cells with DHA...
July 26, 2018: Biochemical Journal
Bushra Bilal, M Kamran Azim
Parasitic nematodes infect more than two billion people worldwide particularly in developing countries. We previously reported nematicidal activity of natural honey using model nematode Caenorhabditis elegans. In this study, characterization of nematicidal effects of natural honey and its glycoproteins has been carried out. Chromatographically separated honey glycoproteins showed potent anti-C. elegans activity (LD50  = 100 ng proteins/μL). Honey glycoproteins with molecular masses of ∼260 kD and ∼160 kD comprised of 'major royal jelly protein-1'-containing complexes...
July 21, 2018: Experimental Parasitology
Shivatheja Soma, Andrew J Latimer, Haarin Chun, Alison C Vicary, Shrishiv A Timbalia, Aren Boulet, Jennifer J Rahn, Sherine S L Chan, Scot C Leary, Byung-Eun Kim, Jonathan D Gitlin, Vishal M Gohil
Copper is an essential cofactor of cytochrome c oxidase (CcO), the terminal enzyme of the mitochondrial respiratory chain. Inherited loss-of-function mutations in several genes encoding proteins required for copper delivery to CcO result in diminished CcO activity and severe pathologic conditions in affected infants. Copper supplementation restores CcO function in patient cells with mutations in two of these genes, COA6 and SCO2 , suggesting a potential therapeutic approach. However, direct copper supplementation has not been therapeutically effective in human patients, underscoring the need to identify highly efficient copper transporting pharmacological agents...
August 7, 2018: Proceedings of the National Academy of Sciences of the United States of America
Renfei Luo, Shan Hu, Qiaojuan Liu, Mengke Han, Feifei Wang, Miaojuan Qiu, Suchun Li, Xiaosa Li, Tianxin Yang, Xiaodong Fu, Weidong Wang, Chunling Li
Increasing evidence supports the important role of H2 S in renal physiology and the pathogenesis of kidney injury. Whether H2 S regulates water metabolism in the kidney and the potential mechanism are still unknown. The present study was conducted to determine the role of H2 S in urine concentration. Inhibition of both cystathionine-γ-lyase (CSE) and cystathionine-β-synthase (CBS), 2 major enzymes for endogenous H2 S production, with propargylglycine (PPG) and amino-oxyacetate (AOAA), respectively, caused increased urine output and reduced urine osmolality in mice that was associated with decreased expression of aquaporin (AQP)-2 in the renal inner medulla...
July 23, 2018: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
Olena O Kurylenko, Justyna Ruchala, Roksolana V Vasylyshyn, Oleh V Stasyk, Olena V Dmytruk, Kostyantyn V Dmytruk, Andriy A Sibirny
Background: Ogataea (Hansenula) polymorpha is one of the most thermotolerant xylose-fermenting yeast species reported to date. Several metabolic engineering approaches have been successfully demonstrated to improve high-temperature alcoholic fermentation by O. polymorpha . Further improvement of ethanol production from xylose in O. polymorpha depends on the identification of bottlenecks in the xylose conversion pathway to ethanol. Results: Involvement of peroxisomal enzymes in xylose metabolism has not been described to date...
2018: Biotechnology for Biofuels
Michelle du Plessis, Jaco Franken, Florian F Bauer
L-Carnitine is a key metabolite in the energy metabolism of eukaryotic cells, functioning as a shuttling molecule for activated acyl-residues between cellular compartments. In higher eukaryotes this function is essential, and defects in carnitine metabolism has severe effects on fatty acid and carbon metabolism. Carnitine supplementation has been associated with an array of mostly beneficial impacts in higher eukaryotic cells, including stress protection and regulation of redox metabolism in diseased cells...
2018: Frontiers in Microbiology
Lance H Rodan, Wanshu Qi, Gregory S Ducker, Didem Demirbas, Regina Laine, Edward Yang, Melissa A Walker, Florian Eichler, Joshua D Rabinowitz, Irina Anselm, Gerard T Berry
Folate metabolism in the brain is critically important and serves a number of vital roles in nucleotide synthesis, single carbon metabolism/methylation, amino acid metabolism, and mitochondrial translation. Genetic defects in almost every enzyme of folate metabolism have been reported to date, and most have neurological sequelae. We report 2 patients presenting with a neurometabolic disorder associated with biallelic variants in the MTHFS gene, encoding 5,10-methenyltetrahydrofolate synthetase. Both patients presented with microcephaly, short stature, severe global developmental delay, progressive spasticity, epilepsy, and cerebral hypomyelination...
June 15, 2018: Molecular Genetics and Metabolism
Antonella Tramutola, Nidhi Sharma, Eugenio Barone, Chiara Lanzillotta, Andrea Castellani, Federica Iavarone, Federica Vincenzoni, Massimo Castagnola, D Allan Butterfield, Silvana Gaetani, Tommaso Cassano, Marzia Perluigi, Fabio Di Domenico
PET scan analysis demonstrated the early reduction of cerebral glucose metabolism in Alzheimer disease (AD) patients that can make neurons vulnerable to damage via the alteration of the hexosamine biosynthetic pathway (HBP). Defective HBP leads to flawed protein O-GlcNAcylation coupled, by a mutual inverse relationship, with increased protein phosphorylation on Ser/Thr residues. Altered O-GlcNAcylation of Tau and APP have been reported in AD and is closely related with pathology onset and progression. In addition, type 2 diabetes patients show an altered O-GlcNAcylation/phosphorylation that might represent a link between metabolic defects and AD progression...
July 18, 2018: Biochimica et Biophysica Acta
Mohamed A Elmonem, Koenraad Veys, Fanny Oliveira Arcolino, Maria Van Dyck, Maria C Benedetti, Francesca Diomedi-Camassei, Gert De Hertogh, Lambertus P van den Heuvel, Marleen Renard, Elena Levtchenko
Cystinosis is an autosomal recessive lysosomal storage disorder characterized by the defective transport of the amino acid cystine out of the lysosome due to a deficiency of cystinosin, the lysosomal cystine transporter. Patients suffer from lysosomal cystine accumulation in various tissues, leading to cellular stress and damage, particularly in the kidney, cornea, and other extra-renal tissues. Cysteamine, a cystine-depleting agent, improves survival and delays the progression of disease, but it does not prevent the development of either renal failure or extra-renal complications...
July 21, 2018: American Journal of Transplantation
Sapna Gupta, Simon Kelow, Liqun Wang, Mark Andrake, Roland L Dunbrack, Warren D Kruger
Mutations in the cystathionine beta-synthase ( CBS ) gene are the cause of classical homocystinuria, the most common inborn error in sulfur metabolism. The p.G307S mutation is the most frequent cause of CBS deficiency in Ireland, which has the highest prevalence of CBS deficiency in Europe. Individuals homozygous for this mutation tend to be severely affected and are pyridoxine nonresponsive, but the molecular basis for the strong effects of this mutation is unclear. Here, we characterized a transgenic mouse model lacking endogenous Cbs and expressing human p...
July 20, 2018: Journal of Biological Chemistry
Nisha Padmanabhan, Katerina Menelaou, Jiali Gao, Alexander Anderson, Georgina E T Blake, Tanya Li, B Nuala Daw, Erica D Watson
The importance of the vitamin folate (also known as folic acid) in erythrocyte formation, maturation, and/or longevity is apparent since folate deficiency in humans causes megaloblastic anemia. Megaloblastic anemia is a type of macrocytic anemia whereby erythrocytes are enlarged and fewer in number. Folate metabolism is required for thymidine synthesis and the one-carbon metabolism, though its specific role in erythropoiesis is not well understood. MTRR is a key enzyme necessary for the progression of folate metabolism since knocking down the Mtrr gene in mice results in hyperhomocysteinemia and global DNA hypomethylation...
July 19, 2018: Journal of Physiology
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