keyword
MENU ▼
Read by QxMD icon Read
search

Complement deficiency

keyword
https://www.readbyqxmd.com/read/28645153/defective-mitochondrial-rna-processing-due-to-pnpt1-variants-causes-leigh-syndrome
#1
Sanna Matilainen, Christopher J Carroll, Uwe Richter, Liliya Euro, Max Pohjanpelto, Anders Paetau, Pirjo Isohanni, Anu Suomalainen
Leigh syndrome is a severe infantile encephalopathy with an exceptionally variable genetic background. We studied the exome of a child manifesting with Leigh syndrome at one month of age and progressing to death by the age of 2.4 years, and identified novel compound heterozygous variants in PNPT1, encoding the polynucleotide phosphorylase (PNPase). Expression of the wild type PNPT1 in the subject's myoblasts functionally complemented the defects, and the pathogenicity was further supported by structural predictions and protein and RNA analyses...
June 22, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28641515/the-development-of-stem-cell-based-treatment-for-liver-failure
#2
Tiantian Zhu, Yuwen Li, Yusheng Guo, Chuanlong Zhu
Liver failure is a devastating clinical syndrome with a persistently mortality rate despite advanced care. According to the pathological histology, hepatic failure was divided into four categories: acute liver failure (ALF), subacute liver failure (SALF), acute - on - chronic liver failure (ACLF) and chronic liver failure (CLF). Orthotopic liver transplantation protected patients from hepatic failure. Yet, limitations including postoperative complications, high costs, and shortages of donor organs defect its application...
June 15, 2017: Current Stem Cell Research & Therapy
https://www.readbyqxmd.com/read/28637873/disease-linked-mutations-in-factor-h-reveal-pivotal-role-of-cofactor-activity-in-self-surface-selective-regulation-of-complement-activation
#3
Heather Kerr, Edwin Wong, Elisavet Makou, Yi Yang, Kevin Marchbank, David Kavanagh, Anna Richards, Andrew P Herbert, Paul N Barlow
Spontaneous activation enables the complement system to respond very rapidly to diverse threats. Activation is efficiently suppressed by complement factor H (CFH) on self surfaces but not foreign surfaces. The surface selectivity of CFH, a soluble protein containing 20 CCP modules (CCPs 1-20), may be compromised by disease-linked mutations. Which of the several functions of CFH drives its self-surface selectivity remains unknown. We made human CFH mutants in Pichia pastoris. In benchmark studies of CCP-1 variants, recombinant I62-CFH (protective against age-related macular degeneration) and V62-CFH functioned equivalently, matching or outperforming plasma-derived CFH while R53H-CFH, linked to atypical haemolytic uraemic syndrome (aHUS), was defective in C3bBb decay-accelerating activity (DAA) and factor I-cofactor activity (CA)...
June 21, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28637710/the-combined-action-of-duplicated-boron-transporters-is-required-for-maize-growth-in-boron-deficient-conditions
#4
Mithu Chatterjee, Qiujie Liu, Caitlin Menello, Mary Galli, Andrea Gallavotti
The micronutrient boron is essential in maintaining the structure of plant cell walls and is critical for high yields in crop species. Boron can move into plants by diffusion or by active and facilitated transport mechanisms. We recently showed that mutations in the maize boron efflux transporter ROTTEN EAR (RTE) cause severe developmental defects and sterility. RTE is part of a small gene family containing five additional members (RTE2-RTE6) that show tissue specific expression. The close paralogous gene RTE2 encodes a protein with 95% amino acid identity with RTE and is similarly expressed in shoot and root cells surrounding the vasculature...
June 21, 2017: Genetics
https://www.readbyqxmd.com/read/28637589/elevated-factor-h-related-protein-1-and-factor-h-pathogenic-variants-decrease-complement-regulation-in%C3%A2-iga-nephropathy
#5
Agustín Tortajada, Eduardo Gutiérrez, Elena Goicoechea de Jorge, Jaouad Anter, Alfons Segarra, Mario Espinosa, Miquel Blasco, Elena Roman, Helena Marco, Luis F Quintana, Josué Gutiérrez, Sheila Pinto, Margarita Lopez-Trascasa, Manuel Praga, Santiago Rodriguez de Córdoba
IgA nephropathy (IgAN), a frequent cause of chronic kidney disease worldwide, is characterized by mesangial deposition of galactose-deficient IgA1-containing immune complexes. Complement involvement in IgAN pathogenesis is suggested by the glomerular deposition of complement components and the strong protection from IgAN development conferred by the deletion of the CFHR3 and CFHR1 genes (ΔCFHR3-CFHR1). Here we searched for correlations between clinical progression and levels of factor H (FH) and FH-related protein 1 (FHR-1) using well-characterized patient cohorts consisting of 112 patients with IgAN, 46 with non-complement-related autosomal dominant polycystic kidney disease (ADPKD), and 76 control individuals...
June 18, 2017: Kidney International
https://www.readbyqxmd.com/read/28634324/ficolins-do-not-alter-host-immune-responses-to-lipopolysaccharide-induced-inflammation-in-vivo
#6
Ninette Genster, Olga Østrup, Camilla Schjalm, Tom Eirik Mollnes, Jack B Cowland, Peter Garred
Ficolins are a family of pattern recognition molecules that are capable of activating the lectin pathway of complement. A limited number of reports have demonstrated a protective role of ficolins in animal models of infection. In addition, an immune modulatory role of ficolins has been suggested. Yet, the contribution of ficolins to inflammatory disease processes remains elusive. To address this, we investigated ficolin deficient mice during a lipopolysaccharide (LPS)-induced model of systemic inflammation...
June 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28631319/herbivory-induced-jasmonates-constrain-plant-sugar-accumulation-and-growth-by-antagonizing-gibberellin-signaling-and-not-by-promoting-secondary-metabolite-production
#7
Ricardo A R Machado, Ian T Baldwin, Matthias Erb
Plants respond to herbivory by reconfiguring hormonal networks, increasing secondary metabolite production and decreasing growth. Furthermore, some plants display a decrease in leaf energy reserves in the form of soluble sugars and starch, leading to the hypothesis that herbivory-induced secondary metabolite production and growth reduction may be linked through a carbohydrate-based resource trade-off. In order to test the above hypothesis, we measured leaf carbohydrates and plant growth in seven genetically engineered Nicotiana attenuata genotypes that are deficient in one or several major herbivore-induced, jasmonate-dependent defensive secondary metabolites and proteins...
July 2017: New Phytologist
https://www.readbyqxmd.com/read/28630128/identification-of-a-d-arabinose-5-phosphate-isomerase-in-the-gram-positive-clostridium-tetani
#8
David L Cech, Katherine Markin, Ronald W Woodard
d-Arabinose-5-phosphate isomerases (APIs) catalyze the interconversion of d-ribulose-5-phosphate and d-arabinose-5-phosphate. Various Gram-negative bacteria, such as the uropathogenic E. coli strain CFT073, contain multiple API paralogs (KdsD, GutQ, KpsF and c3406) that have been assigned various cellular functions. The d-arabinose-5-phosphate formed by these enzymes seems to play important roles in the biosynthesis of lipopolysaccharide and group 2 K-antigen capsules, as well as in the regulation of the cellular d-glucitol uptake and uropathogenic infectivity/virulence...
June 19, 2017: Journal of Bacteriology
https://www.readbyqxmd.com/read/28629465/natural-igm-antibodies-that-bind-neoepitopes-exposed-as-a-result-of-spinal-cord-injury-drive-secondary-injury-by-activating-complement
#9
Aarti Narang, Fei Qiao, Carl Atkinson, Hong Zhu, Xiaofeng Yang, Liudmila Kulik, V Michael Holers, Stephen Tomlinson
BACKGROUND: Natural IgM antibodies (Abs) function as innate immune sensors of injury via recognition of neoepitopes expressed on damaged cells, although how this recognition systems function following spinal cord injury (SCI) exposes various neoepitopes and their precise nature remains largely unknown. Here, we investigated the role of two natural IgM monoclonal Abs (mAbs), B4 and C2, that recognize post-ischemic neoepitopes following ischemia and reperfusion in other tissues. METHODS: Identification of post-SCI expressed neoepitopes was examined using previously characterized monoclonal Abs (B4 and C2 mAbs)...
June 19, 2017: Journal of Neuroinflammation
https://www.readbyqxmd.com/read/28629435/eculizumab-treatment-stochastic-occurrence-of-c3-binding-to-individual-pnh-erythrocytes
#10
Michela Sica, Tommaso Rondelli, Patrizia Ricci, Maria De Angioletti, Antonio M Risitano, Rosario Notaro
BACKGROUND: C5 blockade by eculizumab prevents complement-mediated intravascular hemolysis in paroxysmal nocturnal hemoglobinuria (PNH). However, C3-bound PNH red blood cells (RBCs), arising in almost all treated patients, may undergo extravascular hemolysis reducing clinical benefits. Despite the uniform deficiency of CD55 and of CD59, there are always two distinct populations of PNH RBCs, with (C3+) and without (C3-) C3 binding. METHODS: To investigate this paradox, the phenomenon has been modeled in vitro by incubating RBCs from eculizumab untreated PNH patients with compatible sera containing eculizumab, and by assessing the C3 binding after activation of complement alternative pathway...
June 19, 2017: Journal of Hematology & Oncology
https://www.readbyqxmd.com/read/28627405/the-effects-of-dietary-leucine-on-the-growth-performances-body-composition-metabolic-abilities-and-innate-immune-responses-in-black-carp-mylopharyngodon-piceus
#11
Chenglong Wu, Lian Chen, Zhibin Lu, Jun'e Gao, Yudan Chu, Liang Li, Ming Wang, Geying Zhang, Miaotong Zhang, Jinyun Ye
The present study was focused on the growth, body composition, metabolic abilities and innate immune responses in juvenile black carp Mylopharyngodon piceus fed with six levels of dietary leucine (7.3, 12.4, 16.2, 21.9, 28.3 and 34.5 g kg(-1)) for 9 weeks. Results showed that the highest weight gain (WG) and the lowest feed conversion ratio (FCR) was obtained at 23.5 and 23.9 g kg(-1) dietary leucine using second-order polynomial model, respectively. Adequate dietary leucine content (21.9 and 28.3 g kg(-1)) could significantly up-regulate the expression levels of neuropeptide Y (NPY) and ghrelin (GRL) in the brain of black carp juveniles...
June 13, 2017: Fish & Shellfish Immunology
https://www.readbyqxmd.com/read/28617870/a-novel-genetic-technique-in-plasmodium-berghei-allows-liver-stage-analysis-of-genes-required-for-mosquito-stage-development-and-demonstrates-that-de-novo-heme-synthesis-is-essential-for-liver-stage-development-in-the-malaria-parasite
#12
Upeksha L Rathnapala, Christopher D Goodman, Geoffrey I McFadden
The combination of drug resistance, lack of an effective vaccine, and ongoing conflict and poverty means that malaria remains a major global health crisis. Understanding metabolic pathways at all parasite life stages is important in prioritising and targeting novel anti-parasitic compounds. The unusual heme synthesis pathway of the rodent malaria parasite, Plasmodium berghei, requires eight enzymes distributed across the mitochondrion, apicoplast and cytoplasm. Deletion of the ferrochelatase (FC) gene, the final enzyme in the pathway, confirms that heme synthesis is not essential in the red blood cell stages of the life cycle but is required to complete oocyst development in mosquitoes...
June 2017: PLoS Pathogens
https://www.readbyqxmd.com/read/28617419/utilization-of-genomic-sequencing-for-population-screening-of-immunodeficiencies-in-the-newborn
#13
Ashleigh R Pavey, Dale L Bodian, Thierry Vilboux, Alina Khromykh, Natalie S Hauser, Kathi Huddleston, Elisabeth Klein, Aaron Black, Megan S Kane, Ramaswamy K Iyer, John E Niederhuber, Benjamin D Solomon
PurposeImmunodeficiency screening has been added to many state-directed newborn screening programs. The current methodology is limited to screening for severe T-cell lymphopenia disorders. We evaluated the potential of genomic sequencing to augment current newborn screening for immunodeficiency, including identification of non-T cell disorders.MethodsWe analyzed whole-genome sequencing (WGS) and clinical data from a cohort of 1,349 newborn-parent trios by genotype-first and phenotype-first approaches. For the genotype-first approach, we analyzed predicted protein-impacting variants in 329 immunodeficiency-related genes in the WGS data...
June 15, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28611247/the-malaria-parasite-cyclin-h-homolog-pfcyc1-is-required-for-efficient-cytokinesis-in-blood-stage-plasmodium-falciparum
#14
Jonathan A Robbins, Sabrina Absalon, Vincent A Streva, Jeffrey D Dvorin
All well-studied eukaryotic cell cycles are driven by cyclins, which activate cyclin-dependent kinases (CDKs), and these protein kinase complexes are viable drug targets. The regulatory control of the Plasmodium falciparum cell division cycle remains poorly understood, and the roles of the various CDKs and cyclins remain unclear. The P. falciparum genome contains multiple CDKs, but surprisingly, it does not contain any sequence-identifiable G1-, S-, or M-phase cyclins. We demonstrate that P. falciparum Cyc1 (PfCyc1) complements a G1 cyclin-depleted Saccharomyces cerevisiae strain and confirm that other identified malaria parasite cyclins do not complement this strain...
June 13, 2017: MBio
https://www.readbyqxmd.com/read/28608234/genomics-guided-precise-anti-epileptic-drug-development
#15
Norman Delanty, Gianpiero Cavallleri
Traditional antiepileptic drug development approaches have yielded many important clinically valuable anti-epileptic drugs. However, the screening of promising compounds has been naturally agnostic to epilepsy etiology in individual human patients. Now, genomic medicine is changing the way we view human disease. International collaborations are unraveling the many molecular genetic causes of the epilepsies, including the early onset epileptic encephalopathies, and some of the familial focal epilepsies. Further advances in precision diagnostics will be facilitated by ongoing large collaborations and the wider availability of whole exome and whole genome sequencing in clinical practice...
June 12, 2017: Neurochemical Research
https://www.readbyqxmd.com/read/28606849/genetically-modified-mesenchymal-stem-stromal-cells-transfected-with-adiponectin-gene-can-stably-secrete-adiponectin
#16
Md Murad Hossain, Malliga Raman Murali, Tunku Kamarul
AIMS: Mesenchymal stem/stromal cells (MSCs) hold promises for the treatment of diverse diseases and regeneration of injured tissues. Genetic modification of MSCs through gene delivery might enhance their therapeutic potential. Adiponectin has been appeared as a potential biomarker for predicting various diseases. Plasma adiponectin levels are negatively correlated with various metabolic and vascular diseases and supplementation of exogenous adiponectin ameliorates the diseases. This study aims to develop adiponectin secreting genetically modified MSCs as a potent strategic tool to complement endogenous adiponectin for the treatment of adiponectin deficiency diseases...
June 9, 2017: Life Sciences
https://www.readbyqxmd.com/read/28602513/glycolipids-essential-regulator-of-neuro-inflammation-metabolism-and-gliomagenesis
#17
REVIEW
Koichi Furukawa, Yuhsuke Ohmi, Shuting Ji, Pu Zhang, Robiul H Bhuiyan, Yuki Ohkawa, Orie Tajima, Noboru Hashimoto, Keiko Furukawa
Gene knockout mice of glycosyltransferases have clearly showed roles of their products in the bodies, while there are examples where phenotype of knockout was much less severe than expected probably due to functional redundancy. The most striking novel finding obtained from ganglioside-deficient mice was that progressive inflammatory reaction took place, leading to neurodegeneration. In particular, dysfunction of complement-regulatory proteins due to deteriorated architecture of lipid rafts seemed to be essential mechanisms for the inflammation...
June 7, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28597189/a-podocyte-view-of-membranous-nephropathy-from-heymann-nephritis-to-the-childhood-human-disease
#18
REVIEW
Pierre Ronco, Hanna Debiec
Membranous nephropathy (MN) is characterized by an accumulation of immune deposits on the subepithelial side of the glomerular basement membrane, which results in complement activation and proteinuria. Since 2002, several major antigens of the podocyte have been identified in human MN, the first one being neutral endopeptidase (NEP), the alloantigen involved in neonatal cases of MN that occur in newborns from NEP-deficient mothers. This discovery opened the field to the major advances that have occurred since then in the pathophysiology and treatment of MN...
June 8, 2017: Pflügers Archiv: European Journal of Physiology
https://www.readbyqxmd.com/read/28595743/the-role-of-the-complement-system-in-hereditary-angioedema
#19
Dorottya Csuka, Nóra Veszeli, Lilian Varga, Zoltán Prohászka, Henriette Farkas
Hereditary angioedema (HAE) is a rare, but potentially life-threatening disorder, characterized by acute, recurring, and self-limiting edematous episodes of the face, extremities, trunk, genitals, upper airways, or the gastrointestinal tract. HAE may be caused by the deficiency of C1-inhibitor (C1-INH-HAE) but another type of the disease, hereditary angioedema with normal C1-INH function (nC1-INH-HAE) was also described. The patient population is quite heterogeneous as regards the location, frequency, and severity of edematous attacks, presenting large intra- and inter-individual variation...
June 5, 2017: Molecular Immunology
https://www.readbyqxmd.com/read/28594571/zmpste24-is-downstream-effector-of-interferon-induced-transmembrane-ifitm-antiviral-activity
#20
Shitao Li, Bishi Fu, Lingyan Wang, Martin E Dorf
The zinc metalloprotease ZMPSTE24 is a constitutively and ubiquitously expressed host restriction factor that is responsible for limiting infection by a broad spectrum of enveloped viruses, including influenza A, vesicular stomatitis, zika, ebola, Sindbis, cowpox, and vaccinia viruses, but not murine leukemia or adenovirus. Antiviral function is independent of ZMPSTE24 enzymatic activity. Protein interaction and genetic complementation studies indicate that ZMPSTE24 is a component of a common antiviral pathway that is associated with interferon-induced transmembrane proteins...
June 8, 2017: DNA and Cell Biology
keyword
keyword
55128
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"