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torsdag 2 januari 2020

Hyvää Uutta Vuotta 2020. Mielessäni on tärkeä molekyyli UDP-gal.

UDP-Gal
PubMed haku 2.1. 2020.
https://www.ncbi.nlm.nih.gov/pubmed/?term=UDP-galactose

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  • Poimin muutaman, jotka merkitsevät ihmisen (Homo sapiens)  kannalta olennaista: 
HAKU:  "UDP-galactose, Homo sapiens "
Löytöjä: 
 https://www.ncbi.nlm.nih.gov/pubmed/?term=UDP-galactose++homo+sapiens

Best matches for UDP-galactose homo sapiens:

Hereditary galactosemia. Demirbas D et al. Metabolism. (2018)

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  • Artikkeleita  kahden viime vuoden ajalta: 
The synonymous 903C>G mutation in the alpha 1,4-galactosyltransferase gene in a Chinese woman with habitual abortion: A case report.
Lv X, Chen Y, Luo Y, Li L, Wang H.
Medicine (Baltimore). 2019 Aug;98(31):e16361. doi: 10.1097/MD.0000000000016361.
OUTCOMES:The patient was the rare p phenotype in P1P blood system and the patient's habitual abortion was caused by anti-PP1P antibody which was generated naturally in persons with p phenotype. There was a mutation (903C>G, CCC>CCG) in the 3rd exon of A4GALT gene, which is likely a significant contributor to p phenotype.LESSONS: This is the first case of habitual abortion caused by p phenotype due to independent 903C>G homozygous mutation with no similar record reported before, which indicates that it is a new class of mutation that leads to p phenotype.

Free PMC Article  ( Asetan linkin Veri ja hyytyminen- blogiini 2.1. 2020 veriryhmätietojen joukkoon)
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2.
First Case in Korea of a Patient With Anti-PP1Pk Antibodies: Successful Blood Management via Acute Normovolemic Hemodilution (AMH).
Ha C, Choi S, Yu H, Chun S, Kim KH, Lee JH, Han IW, Cho D.
Ann Lab Med. 2019 Nov;39(6):602-605. doi: 10.3343/alm.2019.39.6.602. No abstract available.Free PMC Article
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  ( Asetan linkin Veri ja hyytyminen- blogiini 2.1. 2020 veriryhmätietojen joukkoon) 
 
3.
Fetal phenotypes of congenital disorder of glycosylation: A case presentation.
Yang YD, Xu LL, Li DZ.
Eur J Obstet Gynecol Reprod Biol. 2019 May;236:257-258. doi: 10.1016/j.ejogrb.2019.03.013. Epub 2019 Mar 19. No abstract available.
Congenital disorders of glycosylation (CDG) are a rapidly growing and genetically and clinically heterogeneous family caused by impaired synthesis of glycoconjugates [1]. Affected individuals have multi-systemic manifestations, mainly profound neurological deficiencies, growth failure, facial dysmorphisms, and a wide range of multiorgan symptoms. Currently, all reported CDG cases are child patients. We here first present a prenatal case of CDG due to a de novo variant in the X-linked gene SLC35A2.
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4.
Identification of Leishmania major UDP-Sugar Pyrophosphorylase Inhibitors Using Biosensor-Based Small Molecule Fragment Library Screening.
Prakash O, Führing J, Post J, Shepherd SM, Eadsforth TC, Gray D, Fedorov R, Routier FH.
Molecules. 2019 Mar 12;24(5). pii: E996. doi: 10.3390/molecules24050996.
Leishmaniasis is a neglected disease that is caused by different species of the protozoan parasite Leishmania, and it currently affects 12 million people worldwide. The antileishmanial therapeutic arsenal remains very limited in number and efficacy, and there is no vaccine for this parasitic disease. One pathway that has been genetically validated as an antileishmanial drug target is the biosynthesis of uridine diphosphate-glucose (UDP-Glc), and its direct derivative UDP-galactose (UDP-Gal). De novo biosynthesis of these two nucleotide sugars is controlled by the specific UDP-glucose pyrophosphorylase (UGP).
 Leishmania parasites additionally express a UDP-sugar pyrophosphorylase (USP) responsible for monosaccharides salvage that is able to generate both UDP-Gal and UDP-Glc. The inactivation of the two parasite pyrophosphorylases UGP and USP, results in parasite death. 
The present study reports on the identification of structurally diverse scaffolds for the development of USP inhibitors by fragment library screening. Based on this screening, we selected a small set of commercially available compounds, and identified molecules that inhibit both Leishmania major USP and UGP, with a half-maximal inhibitory concentration in the 100 µM range. The inhibitors were predicted to bind at allosteric regulation sites, which were validated by mutagenesis studies. This study sets the stage for the development of potent USP inhibitors.Free PMC Article
Similar articles    (Asetan 2.1. 2020  tämän linkin blogiin INFEKTIOISTA)
 
5.
The ability of an LC-MS/MS-based erythrocyte GALT enzyme assay to predict the phenotype in subjects with GALT deficiency.
Demirbas D, Huang X, Daesety V, Feenstra S, Haskovic M, Qi W, Gubbels CS, Hecht L, Levy HL, Waisbren SE, Berry GT.
Mol Genet Metab. 2019 Apr;126(4):368-376. doi: 10.1016/j.ymgme.2019.01.016. Epub 2019 Jan 22.
GALT deficiency is a rare genetic disorder of carbohydrate metabolism. Due to the decreased activity or absence of the enzyme galactose-1-phosphate uridylyltransferase (GALT), cells from affected individuals are unable to metabolize galactose normally. Lactose consumption in the newborn period could potentially lead to a lethal disease process with multi-organ involvement. In contrast to the newborn-stage disease, however, a galactose-restricted diet does not prevent long-term complications such as central nervous system (CNS) dysfunction with speech defects, learning disability and neurological disease in addition to hypergonadotropic hypogonadism or primary ovarian insufficiency (POI) in females. As the literature suggests an association between GALT enzyme activity and the long-term complications, it is of importance to have a highly sensitive assay to quantify the GALT enzyme activity. To that end, we had developed a sensitive and accurate LC-MS/MS method to measure GALT enzyme activity. Its ability to predict outcome is the subject of this report.RESULTS:
The LC-MS/MS method measured GALT activity as low as 0.2%, whereas other methods showed no detectable activity. Largely due to GALT activities that were over 1%, the LC-MS/MS measurements were not significantly different than values obtained in other laboratories using other methodologies. Severe long-term complications were less frequently noted in subjects with >1% activity. Patients with a p.Q188R/p.Q188R genotype have no residual enzyme activity in erythrocytes.CONCLUSION:
Our LC-MS/MS assay may be necessary to accurately quantify residual GALT activities below 5%. The data suggest that patients with >1% residual activity are less likely to develop diet-independent long-term complications. However, much larger sample sizes are needed to properly assess the clinical phenotype in patients with residual enzyme activities between 0.1 and 5%.
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6.
SLC35A5 Protein-A Golgi Complex Member with Putative Nucleotide Sugar Transport Activity.
Sosicka P, Bazan B, Maszczak-Seneczko D, Shauchuk Y, Olczak T, Olczak M.
Int J Mol Sci. 2019 Jan 11;20(2). pii: E276. doi: 10.3390/ijms20020276.
Solute carrier family 35 member A5 (SLC35A5) is a member of the SLC35A protein subfamily comprising nucleotide sugar transporters. However, the function of SLC35A5 is yet to be experimentally determined. In this study, we inactivated the SLC35A5 gene in the HepG2 cell line to study a potential role of this protein in glycosylation. Introduced modification affected neither N- nor O-glycans. There was also no influence of the gene knock-out on glycolipid synthesis. However, inactivation of the SLC35A5 gene caused a slight increase in the level of chondroitin sulfate proteoglycans. Moreover, inactivation of the SLC35A5 gene resulted in the decrease of the uridine diphosphate (UDP)-glucuronic acid, UDP-N-acetylglucosamine, and UDP-N-acetylgalactosamine Golgi uptake, with no influence on the UDP-galactose transport activity. Further studies demonstrated that SLC35A5 localized exclusively to the Golgi apparatus. Careful insight into the protein sequence revealed that the C-terminus of this protein is extremely acidic and contains distinctive motifs, namely DXEE, DXD, and DXXD. Our studies show that the C-terminus is directed toward the cytosol. We also demonstrated that SLC35A5 formed homomers, as well as heteromers with other members of the SLC35A protein subfamily. In conclusion, the SLC35A5 protein might be a Golgi-resident multiprotein complex member engaged in nucleotide sugar transport.Free PMC Article
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7.
A whole genome approach for discovering the genetic basis of blood group antigens: independent confirmation for P1 and Xga.
Lane WJ, Aguad M, Smeland-Wagman R, Vege S, Mah HH, Joseph A, Blout CL, Nguyen TT, Lebo MS, Sidhu M, Lomas-Francis C, Kaufman RM, Green RC, Westhoff CM; MedSeq Project.
Transfusion. 2019 Mar;59(3):908-915. doi: 10.1111/trf.15089. Epub 2018 Dec 28.

(Viite veriryhmätekijöiden joukkoon Veri ja hyytyminen blogiini 2.1. 2020)
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8.
Lactosylceramide synthase β-1,4-GalT-V: A novel target for the diagnosis and therapy of human colorectal cancer.
Chatterjee SB, Hou J, Bandaru VVR, Pezhouh MK, Syed Rifat Mannan AA, Sharma R.
Biochem Biophys Res Commun. 2019 Jan 8;508(2):380-386. doi: 10.1016/j.bbrc.2018.11.149. Epub 2018 Nov 28.
PMID:
30502090
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9.
Immunoregulatory Siglec ligands are abundant in human and mouse aorta and are up-regulated by high glucose.
Zhang Y, Zheng Y, Li J, Nie L, Hu Y, Wang F, Liu H, Fernandes SM, Zhong Q, Li X, Schnaar RL, Jia Y.
Life Sci. 2019 Jan 1;216:189-199. doi: 10.1016/j.lfs.2018.11.049. Epub 2018 Nov 22.
PMID:
30471282
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10.
Palladium-mediated enzyme activation suggests multiphase initiation of glycogenesis.
Bilyard MK, Bailey HJ, Raich L, Gafitescu MA, Machida T, Iglésias-Fernández J, Lee SS, Spicer CD, Rovira C, Yue WW, Davis BG.
Nature. 2018 Nov;563(7730):235-240. doi: 10.1038/s41586-018-0644-7. Epub 2018 Oct 24.
PMID:
30356213
Free Article
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11.
The use of PBPK modeling across the pediatric age range using propofol as a case.
Michelet R, Van Bocxlaer J, Allegaert K, Vermeulen A.
J Pharmacokinet Pharmacodyn. 2018 Dec;45(6):765-785. doi: 10.1007/s10928-018-9607-8. Epub 2018 Oct 8.
PMID:
30298439
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12.
Inherited thrombocytopenia associated with mutation of UDP-galactose-4-epimerase (GALE).
Seo A, Gulsuner S, Pierce S, Ben-Harosh M, Shalev H, Walsh T, Krasnov T, Dgany O, Doulatov S, Tamary H, Shimamura A, King MC.
Hum Mol Genet. 2019 Jan 1;28(1):133-142. doi: 10.1093/hmg/ddy334.
Severe thrombocytopenia, characterized by dysplastic megakaryocytes and intracranial bleeding, was diagnosed in six individuals from a consanguineous kindred. Three of the individuals were successfully treated by bone marrow transplant. Whole-exome sequencing and homozygosity mapping of multiple family members, coupled with whole-genome sequencing to reveal shared non-coding variants, revealed one potentially functional variant segregating with thrombocytopenia under a recessive model: GALE p.R51W (c.C151T, NM_001127621). The mutation is extremely rare (allele frequency = 2.5 × 10-05), and the likelihood of the observed co-segregation occurring by chance is 1.2 × 10-06. GALE encodes UDP-galactose-4-epimerase, an enzyme of galactose metabolism and glycosylation responsible for two reversible reactions: interconversion of UDP-galactose with UDP-glucose and interconversion of UDP-N-acetylgalactosamine with UDP-N-acetylglucosamine. The mutation alters an amino acid residue that is conserved from yeast to humans. The variant protein has both significantly lower enzymatic activity for both interconversion reactions and highly significant thermal instability. Proper glycosylation is critical to normal hematopoiesis, in particular to megakaryocyte and platelet development, as reflected in the presence of thrombocytopenia in the context of congenital disorders of glycosylation. Mutations in GALE have not previously been associated with thrombocytopenia. Our results suggest that GALE p.R51W is inadequate for normal glycosylation and thereby may impair megakaryocyte and platelet development. If other mutations in GALE are shown to have similar consequences, this gene may be proven to play a critical role in hematopoiesis.Free PMC Article
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(Asertan artikkelin  veri ja hyytyminen blogiin 2.1. 2020) 

 
13.
The relevance of ceramides and their synthesizing enzymes for multiple sclerosis.
Kurz J, Brunkhorst R, Foerch C, Blum L, Henke M, Gabriel L, Ulshöfer T, Ferreirós N, Parnham MJ, Geisslinger G, Schiffmann S.
Clin Sci (Lond). 2018 Aug 17;132(17):1963-1976. doi: 10.1042/CS20180506. Print 2018 Sep 14.
Ceramide synthases (CerS) synthesize chain length specific ceramides (Cer), which mediate cellular processes in a chain length-dependent manner. In experimental autoimmune encephalomyelitis (EAE), an animal model of multiple sclerosis (MS), we observed that the genetic deletion of CerS2 suppresses EAE pathology by interaction with granulocyte-colony stimulating factor (G-CSF) signaling and CXC motif chemokine receptor 2 (CXCR2) expression, leading to impaired neutrophil migration. In the present study, we investigated the importance of Cers and their synthesizing/metabolizing enzymes in MS. For this purpose, a longitudinal study with 72 MS patients and 25 healthy volunteers was performed. Blood samples were collected from healthy controls and MS patients over 1- or 3-year periods, respectively. Immune cells were counted using flow cytometry, ceramide levels were determined using liquid chromatography-tandem mass spectrometry, and mRNA expression was analyzed using quantitative PCR. 
In white blood cells, C16-LacCer and C24-Cer were down-regulated in MS patients in comparison with healthy controls.
 In plasma, C16-Cer, C24:1-Cer, C16-GluCer, and C24:1-GluCer were up-regulated and 
C16-LacCer was down-regulated in MS patients in comparison with healthy controls. 
Blood samples from MS patients were characterized by an increased B-cell number. However, there was no correlation between B-cell number and Cer levels. mRNA expression of Cer metabolizing enzymes and G-CSF signaling enzymes was significantly increased in MS patients.
 Interestingly, G-CSF receptor (G-CSFR) and CXCR2 mRNA expression correlated with CerS2 and UDP-glucose Cer glucosyltransferase (UGCG) mRNA expression. 
In conclusion, our results indicate that Cer metabolism is linked to G-CSF signaling in MS.
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14.
SLC35A2-related congenital disorder of glycosylation: Defining the phenotype.
Yates TM, Suri M, Desurkar A, Lesca G, Wallgren-Pettersson C, Hammer TB, Raghavan A, Poulat AL, Møller RS, Thuresson AC, Balasubramanian M.
Eur J Paediatr Neurol. 2018 Nov;22(6):1095-1102. doi: 10.1016/j.ejpn.2018.08.002. Epub 2018 Aug 27.
PMID:
30194038
Free Article
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15.
Acquired Resistance to Shiga Toxin-Induced Apoptosis by Loss of CD77 Expression in Human Myelogenous Leukemia Cell Line, THP-1.
Hattori T, Watanabe-Takahashi M, Nishikawa K, Naito M.
Biol Pharm Bull. 2018;41(9):1475-1479. doi: 10.1248/bpb.b18-00277.
PMID:
30175782
Free Article
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16.
AXER is an ATP/ADP exchanger in the membrane of the endoplasmic reticulum.
Klein MC, Zimmermann K, Schorr S, Landini M, Klemens PAW, Altensell J, Jung M, Krause E, Nguyen D, Helms V, Rettig J, Fecher-Trost C, Cavalié A, Hoth M, Bogeski I, Neuhaus HE, Zimmermann R, Lang S, Haferkamp I.
Nat Commun. 2018 Aug 28;9(1):3489. doi: 10.1038/s41467-018-06003-9.
To fulfill its role in protein biogenesis, the endoplasmic reticulum (ER) depends on the Hsp70-type molecular chaperone BiP, which requires a constant ATP supply. However, the carrier that catalyzes ATP uptake into the ER was unknown. Here, we report that our screen of gene expression datasets for member(s) of the family of solute carriers that are co-expressed with BiP and are ER membrane proteins identifies SLC35B1 as a potential candidate. Heterologous expression of SLC35B1 in E. coli reveals that SLC35B1 is highly specific for ATP and ADP and acts in antiport mode. Moreover, depletion of SLC35B1 from HeLa cells reduces ER ATP levels and, as a consequence, BiP activity. Thus, human SLC35B1 may provide ATP to the ER and was named AXER (ATP/ADP exchanger in the ER membrane). Furthermore, we propose an ER to cytosol low energy response regulatory axis (termed lowER) that appears as central for maintaining ER ATP supply.Free PMC Article
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17.
Profiling of intracellular metabolites produced from galactose and its potential for galactosemia research.
van Weeghel M, Welling L, Treacy EP, Wanders RJA, Ferdinandusse S, Bosch AM.
Orphanet J Rare Dis. 2018 Aug 24;13(1):146. doi: 10.1186/s13023-018-0888-1.
Schematic overview of galactose metabolism: Galactose [1] is converted by galactokinase (GALK1) to galactose-1-phosphate (Gal-1-P) [2] which is subsequently converted to uridine diphosphate (UDP)-galactose [3] by galactose-1-phosphate uridyltransferase (GALT). For this last conversion UDP-glucose [4] is used as a donor for the UDP and as a receptor for the phosphate to produce UDP-galactose [3] and glucose-1-phosphate [5]. Produced glucose-1-phosphate [5] can enter glycolysis via phosphoglucomutase to glucose-6-phosphate and subsequently enter the tricarboxylic acid (TCA) cycle. UDP-galactose [3] can be converted by UDP-galactose-4-epimerase (GALE) to UDP-glucose [4]. The numbered carbons are used in the galactose metabolites profiling (GMP) measurementsFree PMC Article
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18.
Mosaicism of the UDP-Galactose transporter SLC35A2 in a female causing a congenital disorder of glycosylation: a case report.
Westenfield K, Sarafoglou K, Speltz LC, Pierpont EI, Steyermark J, Nascene D, Bower M, Pierpont ME.
BMC Med Genet. 2018 Jun 15;19(1):100. doi: 10.1186/s12881-018-0617-6.
PMID:
29907092
Free PMC Article
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19.
Steric Control of the Rate-Limiting Step of UDP-Galactopyranose Mutase.
Pierdominici-Sottile G, Cossio-Pérez R, Da Fonseca I, Kizjakina K, Tanner JJ, Sobrado P.
Biochemistry. 2018 Jul 3;57(26):3713-3721. doi: 10.1021/acs.biochem.8b00323. Epub 2018 May 18.
PMID:
29757624
Free PMC Article
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20.
Single nucleotide polymorphisms in A4GALT spur extra products of the human Gb3/CD77 synthase and underlie the P1PK blood group system.
Kaczmarek R, Szymczak-Kulus K, Bereźnicka A, Mikołajczyk K, Duk M, Majorczyk E, Krop-Watorek A, Klausa E, Skowrońska J, Michalewska B, Brojer E, Czerwinski M.
PLoS One. 2018 Apr 30;13(4):e0196627. doi: 10.1371/journal.pone.0196627. eCollection 2018.
Contrary to the mainstream blood group systems, P1PK continues to puzzle and generate controversies over its molecular background. The P1PK system comprises three glycosphingolipid antigens: Pk, P1 and NOR, all synthesised by a glycosyltransferase called Gb3/CD77 synthase. The Pk antigen is present in most individuals, whereas P1 frequency is lesser and varies regionally, thus underlying two common phenotypes: P1, if the P1 antigen is present, and P2, when P1 is absent. Null and NOR phenotypes are extremely rare. 
To date, several single nucleotide polymorphisms (SNPs) have been proposed to predict the P1/P2 status, but it has not been clear how important they are in general and in relation to each other, nor has it been clear how synthesis of NOR affects the P1 phenotype. Here, we quantitatively analysed the phenotypes and A4GALT transcription in relation to the previously proposed SNPs in a sample of 109 individuals, and addressed potential P1 antigen level confounders, most notably the red cell membrane cholesterol content. While all the SNPs were associated with the P1/P2 blood type and rs5751348 was the most reliable, we found large differences in P1 level within groups defined by their genotype and substantial intercohort overlaps, which shows that the P1PK blood group system still eludes full understanding.Free PMC Article
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