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protein C deficiency

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https://www.readbyqxmd.com/read/29055189/a-mannose-specific-c-type-lectin-from-fenneropenaeus-merguiensis-exhibited-antimicrobial-activity-to-mediate-shrimp-innate-immunity
#1
Phanthipha Runsaeng, Peerapong Puengyam, Prapaporn Utarabhand
Being one type of pattern recognition receptors (PRRs), lectins exhibit a crucial role in the defense mechanism of invertebrates which are deficient in an adaptive immune system. A new C-type lectin called FmLC3 was isolated from hepatopancreas of Fenneropenaeus merguiensis by cloning approaches, RT-PCR and 5' and 3' RACE (rapid amplification of cDNA ends). A full-length cDNA of FmLC3 contains 607 bp with one open reading frame of 480bp, encoding a 159-amino acids peptide. The predicted primary structure of FmLC3 is composed of a signal peptide, a carbohydrate recognition domain with an EPN motif and one Ca(2+) binding site-2, including a double-loop region assisted by two conserved disulfide linkages...
October 18, 2017: Molecular Immunology
https://www.readbyqxmd.com/read/29053957/cdk4-phosphorylates-ampk%C3%AE-2-to-inhibit-its-activity-and-repress-fatty-acid-oxidation
#2
Isabel C Lopez-Mejia, Sylviane Lagarrigue, Albert Giralt, Laia Martinez-Carreres, Nadège Zanou, Pierre-Damien Denechaud, Judit Castillo-Armengol, Carine Chavey, Meritxell Orpinell, Brigitte Delacuisine, Anita Nasrallah, Caterina Collodet, Lianjun Zhang, Benoît Viollet, D Grahame Hardie, Lluis Fajas
The roles of CDK4 in the cell cycle have been extensively studied, but less is known about the mechanisms underlying the metabolic regulation by CDK4. Here, we report that CDK4 promotes anaerobic glycolysis and represses fatty acid oxidation in mouse embryonic fibroblasts (MEFs) by targeting the AMP-activated protein kinase (AMPK). We also show that fatty acid oxidation (FAO) is specifically induced by AMPK complexes containing the α2 subunit. Moreover, we report that CDK4 represses FAO through direct phosphorylation and inhibition of AMPKα2...
October 19, 2017: Molecular Cell
https://www.readbyqxmd.com/read/29052144/the-effects-of-extracellular-serum-concentration-on-app-processing-in-npc1-deficient-app-overexpressing-n2a-cells
#3
M Maulik, D Vergote, G Phukan, J Chung, G Thinakaran, S Kar
Amyloid precursor protein (APP) is cleaved by a set of proteases including α-/β-/γ- and recently identified η-secretases, generating C-terminal fragments (CTFs) of varying lengths and amyloid β (Aβ) peptides, which are considered to play a pivotal role in Alzheimer's disease (AD) pathogenesis. Cellular cholesterol content/distribution can regulate the production/clearance of APP metabolites and hence modify AD pathology. To determine the functional relation between endosomal-lysosomal (EL) cholesterol sequestration and APP metabolism, we used our recently developed mouse N2a-ANPC cells that overexpress Swedish mutant human APP in the absence of cholesterol-trafficking Niemann-Pick type C1 (Npc1) protein...
October 19, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/29051265/regulation-of-notch-signaling-by-rab7-and-rab8-requires-carboxyl-methylation-by-icmt
#4
Helen Court, Ian M Ahearn, Marc Amoyel, Erika A Bach, Mark R Philips
Isoprenylcysteine carboxyl methyltransferase (ICMT) methylesterifies C-terminal prenylcysteine residues of CaaX proteins and some RAB GTPases. Deficiency of either ICMT or NOTCH1 accelerates pancreatic neoplasia in Pdx1-Cre;LSL-Kras(G12D) mice, suggesting that ICMT is required for NOTCH signaling. We used Drosophila melanogaster wing vein and scutellar bristle development to screen Rab proteins predicted to be substrates for ICMT (ste14 in flies). We identified Rab7 and Rab8 as ICMT substrates that when silenced phenocopy ste14 deficiency...
October 19, 2017: Journal of Cell Biology
https://www.readbyqxmd.com/read/29050862/jak-stat-signaling-pathway-gene-expression-is-reduced-following-nelf-knockdown-in-gnrh-neurons
#5
Eun Kyung Ko, Lynn P Chorich, Megan E Sullivan, Richard S Cameron, Lawrence C Layman
Hypothalamic gonadotropin releasing hormone (GnRH) is crucial for the proper function of the hypothalamic-pituitary-gonadal (HPG) axis, subsequent puberty, and reproduction. When GnRH neuron migration or GnRH regulation is impaired, hypogonadotropic hypogonadism results. Mutations in the gene for nasal embryonic luteinizing hormone-releasing factor (NELF) have been identified in GnRH-deficient humans. NELF is a predominantly nuclear protein that may participate in gene transcription, but the genes NELF regulates are unknown...
October 16, 2017: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/29048623/vegfr3-inhibition-chemosensitizes-lung-adenocarcinoma-a549-cells-in-the-tumor-associated-macrophage-microenvironment-through-upregulation-of-p53-and-pten
#6
Ya Li, Yaguang Weng, Liang Zhong, Huimin Chong, Sicheng Chen, Yanting Sun, Wang Li, Qiong Shi
In lung adenocarcinoma, loss of p53 and PTEN in tumors are associated with decreased response to chemotherapy and decreased survival. A means to pharmacologically upregulate p53 and PTEN protein expression could improve the prognosis of patients with p53- and PTEN-deficient tumors. In the present study we revealed that vascular endothelial growth factor receptor 3 (VEGFR3) inhibition in lung adenocarcinoma cells was associated with improved expression levels of both p53 and PTEN in the tumor-associated macrophage (TAM) microenvironment...
September 19, 2017: Oncology Reports
https://www.readbyqxmd.com/read/29048592/the-yeast-2-%C3%AE-m-plasmid-raf-protein-contributes-to-plasmid-inheritance-by-stabilizing-the-rep1-and-rep2-partitioning-proteins
#7
Mary E McQuaid, Jordan B Pinder, Niroshaathevi Arumuggam, Jessica S C Lacoste, Joyce S K Chew, Melanie J Dobson
The yeast 2-μm plasmid is a remarkable genetic parasite, managing efficient maintenance at high-copy number with minimal impact on the host. Equal partitioning of the plasmid upon host cell division requires plasmid proteins Rep1 and Rep2 and the plasmid STB locus. The Rep proteins and the plasmid-encoded Raf protein also regulate plasmid gene transcription. In this study, protein interaction assays, sequence analyses and mutational approaches were used to identify domains and residues in Rep2 and Raf required for association with Rep1 and Rep2 and to delineate the Rep2 DNA-binding domain...
October 13, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/29047041/a-profound-computational-study-to-prioritize-the-disease-causing-mutations-in-prps1-gene
#8
Ashish Kumar Agrahari, P Sneha, C George Priya Doss, R Siva, Hatem Zayed
Charcot-Marie-Tooth disease (CMT) is one of the most commonly inherited congenital neurological disorders, affecting approximately 1 in 2500 in the US. About 80 genes were found to be in association with CMT. The phosphoribosyl pyrophosphate synthetase 1 (PRPS1) is an essential enzyme in the primary stage of de novo and salvage nucleotide synthesis. The mutations in the PRPS1 gene leads to X-linked Charcot-Marie-Tooth neuropathy type 5 (CMTX5), PRS super activity, Arts syndrome, X-linked deafness-1, breast cancer, and colorectal cancer...
October 18, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/29046483/deficiency-of-shank2-causes-mania-like-behavior-that-responds-to-mood-stabilizers
#9
Andrea L Pappas, Alexandra L Bey, Xiaoming Wang, Mark Rossi, Yong Ho Kim, Haidun Yan, Fiona Porkka, Lara J Duffney, Samantha M Phillips, Xinyu Cao, Jin-Dong Ding, Ramona M Rodriguiz, Henry H Yin, Richard J Weinberg, Ru-Rong Ji, William C Wetsel, Yong-Hui Jiang
Genetic defects in the synaptic scaffolding protein gene, SHANK2, are linked to a variety of neuropsychiatric disorders, including autism spectrum disorders, schizophrenia, intellectual disability, and bipolar disorder, but the molecular mechanisms underlying the pleotropic effects of SHANK2 mutations are poorly understood. We generated and characterized a line of Shank2 mutant mice by deleting exon 24 (Δe24). Shank2Δe24-/- mice engage in significantly increased locomotor activity, display abnormal reward-seeking behavior, are anhedonic, have perturbations in circadian rhythms, and show deficits in social and cognitive behaviors...
October 19, 2017: JCI Insight
https://www.readbyqxmd.com/read/29046471/-a-case-report-of-congenital-protein-c-deficiency-with-cerebral-venous-sinus-thrombosis-during-early-pregnancy-period
#10
Yusaku Maeda, Koichi Satoh, Tatsuya Haboshi, Mami Hanaoka, Kenji Shimada, Kazuhito Matsuzaki, Hajimu Miyake, Hitoshi Niki
A 35-year-old woman at eight weeks of gestation in her second pregnancy presented with generalized seizures. Magnetic resonance images revealed a small hemorrhagic infarction in the left frontal lobe, and magnetic resonance venography indicated cerebral venous sinus thrombosis. After hospitalization, anticoagulant therapy was continued, and a low protein C level was confirmed, which was also confirmed in both her mother and her sister. Follow-up magnetic resonance venography performed on day 27 confirmed that the cerebral venous sinuses had undergone recanalization...
October 2017: No Shinkei Geka. Neurological Surgery
https://www.readbyqxmd.com/read/29046458/a-tyrosine-based-trafficking-motif-of-the-tegument-protein-pul71-is-crucial-for-human-cytomegalovirus-secondary-envelopment
#11
Andrea N Dietz, Clarissa Villinger, Stefan Becker, Manfred Frick, Jens von Einem
The human cytomegalovirus (HCMV) tegument protein pUL71 is required for efficient secondary envelopment and accumulates at the Golgi-derived viral assembly complex (vAC) during infection. Analysis of various C-terminally truncated pUL71 fused to eGFP identified amino acids 23-34 as important determinants for its Golgi localization. Sequence analysis and mutational verification revealed the presence of an N-terminal tyrosine-based trafficking motif (YxxΦ) in pUL71. This led us to hypothesize a requirement of the YxxΦ motif for the function of pUL71 in infection...
October 18, 2017: Journal of Virology
https://www.readbyqxmd.com/read/29046360/a-erk-rsk-mediated-negative-feedback-loop-regulates-m-csf-evoked-pi3k-akt-activation-in-macrophages
#12
Lijun Wang, Caterina Iorio, Kevin Yan, Howard Yang, Sunao Takeshita, Sumin Kang, Benjamin G Neel, Wentian Yang
Activation of the RAS/ERK and its downstream signaling components is essential for growth factor-induced cell survival, proliferation, and differentiation. The Src homology-2 domain containing protein tyrosine phosphatase 2 (SHP2), encoded by protein tyrosine phosphatase, non-receptor type 11 (Ptpn11), is a positive mediator required for most, if not all, receptor tyrosine kinase-evoked RAS/ERK activation, but differentially regulates the PI3K/AKT signaling cascade in various cellular contexts. The precise mechanisms underlying the differential effects of SHP2 deficiency on the PI3K pathway remain unclear...
October 18, 2017: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/29043237/hepcidin-and-iron-parameters-in-children-with-anemia-of-chronic-disease-and-iron-deficiency-anemia
#13
Gunjan Mahajan, Sunita Sharma, Jagdish Chandra, Anita Nangia
BACKGROUND: Anemia of chronic disease (ACD) and iron deficiency anemia (IDA) are the two most prevalent forms of anemia having interrelated characteristics. Hepcidin, a newly introduced biomarker for assessment of iron status, is a homeostatic regulator of iron metabolism. We investigated the role of hepcidin and other conventional iron parameters to assess iron status among children with ACD and IDA. We also identified children with ACD who developed iron deficiency (ID). METHODS: The study was undertaken in anemic children with 30 cases each of ACD and IDA along with 30 age and sex-matched controls...
September 2017: Blood Research
https://www.readbyqxmd.com/read/29042959/diagnosis-of-cobalamin-c-deficiency-with-renal-abnormality-from-onset-in-a-chinese-child-by-next-generation-sequencing-a-case-report
#14
Qiuxia Chen, Huaying Bao, Hongmei Wu, Sanlong Zhao, Songming Huang, Fei Zhao
The aim of the present study was to present the diagnosis and treatment course of a patient with cobalamin C deficiency (cblC) hospitalized with renal function abnormality from the onset. A female, 7-year-old patient who presented with a cough and progressive dyspnea for 1 day was admitted to the Children's Hospital of Nanjing Medical University (Nanjing, China). A routine clinical examination was performed, including physical examination, routine blood and urine tests, blood gas analysis, computed tomography scans of the head, chest and abdomen, electrocardiogram, echocardiography and abdominal ultrasonography...
October 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/29040465/the-fut2-secretor-variant-p-trp154ter-influences-serum-vitamin-b12-concentration-via-holo-haptocorrin-but-not-holo-transcobalamin-and-is-associated-with-haptocorrin-glycosylation
#15
Aneliya Velkova, Jennifer E L Diaz, Faith Pangilinan, Anne M Molloy, James L Mills, Barry Shane, Erica Sanchez, Conal Cunningham, Helen McNulty, Cheryl D Cropp, Joan E Bailey-Wilson, Alexander F Wilson, Lawrence C Brody
Vitamin B12 deficiency is common in older individuals. Circulating vitamin B12 concentration can be used to diagnose deficiency but this test has substantial false positive and false negative rates. We conducted genome-wide association studies (GWAS) in which we resolved total serum vitamin B12 into the fractions bound to transcobalamin and haptocorrin: two carrier proteins with very different biological properties. We replicated reported associations between total circulating vitamin B12 concentrations and a common null variant in FUT2...
October 12, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/29040284/the-prevalence-and-clinical-manifestation-of-hereditary-thrombophilia-in-korean-patients-with-unprovoked-venous-thromboembolisms
#16
Su Yeon Lee, Eun Kyoug Kim, Min Sun Kim, Sun Hye Shin, Haseong Chang, Shin Yi Jang, Hee-Jin Kim, Duk-Kyung Kim
BACKGROUND: Hereditary thrombophilia (HT) is a genetic predisposition to thrombosis. Asian mutation spectrum of HT is different from Western ones. We investigated the incidence and clinical characteristics of HT in Korean patients with unprovoked venous thromboembolism (VTE). METHODS: Among 369 consecutive patients with thromboembolic event who underwent thrombophilia tests, we enrolled 222 patients diagnosed with unprovoked VTE. The presence of HT was confirmed by DNA sequencing of the genes that cause deficits in natural anticoagulants (NAs)...
2017: PloS One
https://www.readbyqxmd.com/read/29038916/functional-characterization-of-chloroplast-targeted-rbga-gtpase-in-higher-plants
#17
Young Jeon, Hee-Kyung Ahn, Yong Won Kang, Hyun-Sook Pai
Plant RbgA GTPase is targeted to chloroplasts and co-fractionated with chloroplast ribosomes, and plays a role in chloroplast rRNA processing and/or ribosome biogenesis. Ribosome Biogenesis GTPase A (RbgA) homologs are evolutionarily conserved GTPases that are widely distributed in both prokaryotes and eukaryotes. In this study, we investigated functions of chloroplast-targeted RbgA. Nicotiana benthamiana RbgA (NbRbgA) and Arabidopsis thaliana RbgA (AtRbgA) contained a conserved GTP-binding domain and a plant-specific C-terminal domain...
October 16, 2017: Plant Molecular Biology
https://www.readbyqxmd.com/read/29038162/systematic-analysis-of-human-cells-lacking-atg8-proteins-uncovers-roles-for-gabaraps-and-the-ccz1-mon1-regulator-c18orf8-rmc1-in-macro-and-selective-autophagic-flux
#18
Laura Pontano Vaites, Joao A Paulo, Edward L Huttlin, J Wade Harper
Selective and macro autophagy sequester specific organelles/substrates or bulk cytoplasm, respectively, inside autophagosomes as cargo for delivery to lysosomes. The mammalian ATG8 orthologues (MAP1LC3A/B/C and GABARAP/L1/L2) are ubiquitin (UB)-like proteins conjugated to the autophagosome membrane and are thought to facilitate cargo receptor recruitment, vesicle maturation, and lysosomal fusion. To elucidate the molecular functions of the ATG8 proteins, we engineered cells lacking genes for each subfamily as well as all six mammalian ATG8s...
October 16, 2017: Molecular and Cellular Biology
https://www.readbyqxmd.com/read/29038127/the-genital-tract-virulence-factor-pgp3-is-essential-for-chlamydia-muridarum-colonization-in-the-gastrointestinal-tract
#19
Lili Shao, Tianyuan Zhang, Jose Melero, Yumeng Huang, Yuanjun Liu, Quanzhong Liu, Cheng He, David E Nelson, Guangming Zhong
The cryptic plasmid is essential for Chlamydia muridarum dissemination from the genital tract to the gastrointestinal tract. Following intravaginal inoculation, C. muridarum deficient in plasmid-encoded pGP3 or 4, but not pGP5, 7 or 8, failed to spread to the mouse gastrointestinal tract, although mice infected with these strains developed productive genital tract infections. pGP3- or pGP4-deficient strains also failed to colonize the gastrointestinal tract when delivered intragastrically. pGP4 regulates pGP3, while pGP3 does not affect pGP4 expression, indicating that pGP3 is critical for C...
October 16, 2017: Infection and Immunity
https://www.readbyqxmd.com/read/29035969/effects-of-medical-food-leucine-content-in-the-management-of-methylmalonic-and-propionic-acidemias
#20
Jennifer G Myles, Irini Manoli, Charles P Venditti
PURPOSE OF REVIEW: The current review highlights the varied effects of medical foods high in leucine (Leu) and devoid of valine (Val) and isoleucine (Ile) in the management of methylmalonic acidemia (MMA) and propionic acidemia and cobalamin C (cblC) deficiency, aiming to advance dietary practices. RECENT FINDINGS: Leu is a key metabolic regulator with a multitude of effects on different organ systems. Recent observational studies have demonstrated that these effects can have unintended consequences in patients with MMA as a result of liberal use of medical foods...
October 14, 2017: Current Opinion in Clinical Nutrition and Metabolic Care
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