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https://www.readbyqxmd.com/read/28521186/timely-diagnosis-of-sitosterolemia-by-next-generation-sequencing-in-two-children-with-severe-hypercholesterolemia
#1
Paola Sabrina Buonuomo, Lorenzo Iughetti, Livia Pisciotta, Claudio Rabacchi, Francesco Papadia, Patrizia Bruzzi, Albina Tummolo, Andrea Bartuli, Claudio Cortese, Stefano Bertolini, Sebastiano Calandra
BACKGROUND AND AIMS: Severe hypercholesterolemia associated or not with xanthomas in a child may suggest the diagnosis of homozygous autosomal dominant hypercholesterolemia (ADH), autosomal recessive hypercholesterolemia (ARH) or sitosterolemia, depending on the transmission of hypercholesterolemia in the patient's family. Sitosterolemia is a recessive disorder characterized by high plasma levels of cholesterol and plant sterols due to mutations in the ABCG5 or the ABCG8 gene, leading to a loss of function of the ATP-binding cassette (ABC) heterodimer transporter G5-G8...
May 4, 2017: Atherosclerosis
https://www.readbyqxmd.com/read/28508825/abcs-of-rhogtpases-indicating-potential-role-as-oncotargets
#2
REVIEW
Indira Bora, Neeta Shrivastava
RhoGTPases also known as molecular switches represent a family of GTP-binding proteins. They shuttle between "On" and "Off" states. In the "On" state, they activate plethora of molecules. These proteins perform a wide variety of functions involving cytoskeletal modeling, cell motility, migration, and mitosis. Members of this family are referred as master regulators of many cellular activities. Due to wide variety of portfolios attributed to RhoGTPases, their misbehavior leads to initiation and also progression of metastatic cancers...
January 2017: Journal of Cancer Research and Therapeutics
https://www.readbyqxmd.com/read/28505304/phytoplasma-conserved-phyllogen-proteins-induce-phyllody-across-the-plantae-by-degrading-floral-mads-domain-proteins
#3
Yugo Kitazawa, Nozomu Iwabuchi, Misako Himeno, Momoka Sasano, Hiroaki Koinuma, Takamichi Nijo, Tatsuya Tomomitsu, Tetsuya Yoshida, Yukari Okano, Nobuyuki Yoshikawa, Kensaku Maejima, Kenro Oshima, Shigetou Namba
ABCE-class MADS domain transcription factors (MTFs) are key regulators of floral organ development in angiosperms. Aberrant expression of these genes can result in abnormal floral traits such as phyllody. Phyllogen is a virulence factor conserved in phytoplasmas, plant pathogenic bacteria of the class Mollicutes. It triggers phyllody in Arabidopsis thaliana by inducing degradation of A- and E-class MTFs. However, it is still unknown whether phyllogen can induce phyllody in plants other than A. thaliana, although phytoplasma-associated phyllody symptoms are observed in a broad range of angiosperms...
May 15, 2017: Journal of Experimental Botany
https://www.readbyqxmd.com/read/28494332/polymorphism-in-abc-transporter-genes-of-dirofilaria-immitis
#4
Thangadurai Mani, Catherine Bourguinat, Roger K Prichard
Dirofilaria immitis, a filarial nematode, causes dirofilariasis in dogs, cats and occasionally in humans. Prevention of the disease has been mainly by monthly use of the macrocyclic lactone (ML) endectocides during the mosquito transmission season. Recently, ML resistance has been confirmed in D. immitis and therefore, there is a need to find new classes of anthelmintics. One of the mechanisms associated with ML resistance in nematodes has been the possible role of ATP binding cassette (ABC) transporters in reducing drug concentrations at receptor sites...
April 29, 2017: International Journal for Parasitology, Drugs and Drug Resistance
https://www.readbyqxmd.com/read/28484037/chromosome-level-genome-assembly-and-transcriptome-of-the-green-alga-chromochloris-zofingiensis-illuminates-astaxanthin-production
#5
Melissa S Roth, Shawn J Cokus, Sean D Gallaher, Andreas Walter, David Lopez, Erika Erickson, Benjamin Endelman, Daniel Westcott, Carolyn A Larabell, Sabeeha S Merchant, Matteo Pellegrini, Krishna K Niyogi
Microalgae have potential to help meet energy and food demands without exacerbating environmental problems. There is interest in the unicellular green alga Chromochloris zofingiensis, because it produces lipids for biofuels and a highly valuable carotenoid nutraceutical, astaxanthin. To advance understanding of its biology and facilitate commercial development, we present a C. zofingiensis chromosome-level nuclear genome, organelle genomes, and transcriptome from diverse growth conditions. The assembly, derived from a combination of short- and long-read sequencing in conjunction with optical mapping, revealed a compact genome of ∼58 Mbp distributed over 19 chromosomes containing 15,274 predicted protein-coding genes...
May 8, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28469478/spatiotemporal-changes-in-p-glycoprotein-levels-in-brain-and-peripheral-tissues-following-ischemic-stroke-in-rats
#6
Kelly M DeMars, Changjun Yang, Kimberly E Hawkins, Austin O McCrea, David M Siwarski, Eduardo Candelario-Jalil
P-glycoprotein (P-gp) is known to transport a diverse array of xenobiotics, including therapeutic drugs. A member of the ATP-binding cassette (ABC) transporter family, P-gp is a protein encoded by the gene Mdr1 in humans and Abcb1 in rodents (represented by 2 isoforms Abcb1a and Abcb1b). Lining the luminal and abluminal membrane of brain capillary endothelial cells, P-gp is a promiscuous efflux pump extruding a variety of exogenous toxins and drugs. In this study, we measured dynamic changes in Abcb1a and Abcb1b transcripts and P-gp protein in the brain, liver, and kidney after experimental stroke...
2017: Journal of Experimental Neuroscience
https://www.readbyqxmd.com/read/28468577/abc-gene-expression-profiles-have-clinical-importance-and-possibly-form-a-new-hallmark-of-cancer
#7
Pavel Dvorak, Martin Pesta, Pavel Soucek
Adenosine triphosphate-binding cassette proteins constitute a large family of active transporters through extracellular and intracellular membranes. Increased drug efflux based on adenosine triphosphate-binding cassette protein activity is related to the development of cancer cell chemoresistance. Several articles have focused on adenosine triphosphate-binding cassette gene expression profiles (signatures), based on the expression of all 49 human adenosine triphosphate-binding cassette genes, in individual tumor types and reported connections to established clinicopathological features...
May 2017: Tumour Biology: the Journal of the International Society for Oncodevelopmental Biology and Medicine
https://www.readbyqxmd.com/read/28461447/bacterial-pero-permeases-transport-sulfate-and-related-oxyanions
#8
Marie-Christine Hoffmann, Yvonne Pfänder, Marc Tintel, Bernd Masepohl
Rhodobacter capsulatus synthesizes the high-affinity ABC transporters CysTWA and ModABC to specifically import the chemically related oxyanions sulfate and molybdate, respectively. In addition, R. capsulatus has the low-affinity permease PerO acting as a general oxyanion transporter, whose elimination increases tolerance to molybdate and tungstate. Although widespread in bacteria, the function of PerO-like permeases has not been examined in any other species to date. Here, we present evidence that PerO permeases from the Alphaproteobacteria Agrobacterium tumefaciens, Dinoroseobacter shibae, Rhodobacter sphaeroides, and Sinorhizobium meliloti, and the Gammaproteobacterium Pseudomonas stutzeri functionally substitute for R...
May 1, 2017: Journal of Bacteriology
https://www.readbyqxmd.com/read/28447295/functional-expression-of-p-glycoprotein-and-organic-anion-transporting-polypeptides-at-the-blood-brain-barrier-understanding-transport-mechanisms-for-improved-cns-drug-delivery
#9
Wazir Abdullahi, Thomas P Davis, Patrick T Ronaldson
Drug delivery to the central nervous system (CNS) is greatly limited by the blood-brain barrier (BBB). Physical and biochemical properties of the BBB have rendered treatment of CNS diseases, including those with a hypoxia/reoxygenation (H/R) component, extremely difficult. Targeting endogenous BBB transporters from the ATP-binding cassette (ABC) superfamily (i.e., P-glycoprotein (P-gp)) or from the solute carrier (SLC) family (i.e., organic anion transporting polypeptides (OATPs in humans; Oatps in rodents)) has been suggested as a strategy that can improve delivery of drugs to the brain...
April 26, 2017: AAPS Journal
https://www.readbyqxmd.com/read/28427348/comparative-genomics-and-evolution-of-the-amylase-binding-proteins-of-oral-streptococci
#10
Elaine M Haase, Yurong Kou, Amarpreet Sabharwal, Yu-Chieh Liao, Tianying Lan, Charlotte Lindqvist, Frank A Scannapieco
BACKGROUND: Successful commensal bacteria have evolved to maintain colonization in challenging environments. The oral viridans streptococci are pioneer colonizers of dental plaque biofilm. Some of these bacteria have adapted to life in the oral cavity by binding salivary α-amylase, which hydrolyzes dietary starch, thus providing a source of nutrition. Oral streptococcal species bind α-amylase by expressing a variety of amylase-binding proteins (ABPs). Here we determine the genotypic basis of amylase binding where proteins of diverse size and function share a common phenotype...
April 20, 2017: BMC Microbiology
https://www.readbyqxmd.com/read/28401847/enhancing-executive-functioning-among-toddlers-in-foster-care-with-an-attachment-based-intervention
#11
Teresa Lind, K Lee Raby, E B Caron, Caroline K P Roben, Mary Dozier
Young children in foster care often experience adversity, such as maltreatment and lack of stability in early caregiving relationships. As a result, these children are at risk for a range of problems, including deficits in executive functioning. The Attachment and Biobehavioral Catch-up for Toddlers (ABC-T) intervention was designed to help foster parents behave in ways that promote the development of young children's emerging self-regulatory capabilities. Participants included 173 parent-toddler dyads in three groups: foster families that were randomly assigned to receive either the ABC-T intervention (n = 63) or a control intervention (n = 58), as well as low-risk parent-toddler dyads from intact families (n = 52)...
May 2017: Development and Psychopathology
https://www.readbyqxmd.com/read/28394899/genomic-analyses-of-the-ancestral-manila-family-of-mycobacterium-tuberculosis
#12
Xuehua Wan, Kent Koster, Lishi Qian, Edward Desmond, Richard Brostrom, Shaobin Hou, James T Douglas
With its airborne transmission and prolonged latency period, Mycobacterium tuberculosis spreads worldwide as one of the most successful bacterial pathogens and continues to kill millions of people every year. M. tuberculosis lineage 1 is inferred to originate ancestrally based on the presence of the 52-bp TbD1 sequence and analysis of single nucleotide polymorphisms. Previously, we briefly reported the complete genome sequencing of M. tuberculosis strains 96121 and 96075, which belong to the ancient Manila family and modern Beijing family respectively...
2017: PloS One
https://www.readbyqxmd.com/read/28388411/architectures-of-lipid-transport-systems-for-the-bacterial-outer-membrane
#13
Damian C Ekiert, Gira Bhabha, Georgia L Isom, Garrett Greenan, Sergey Ovchinnikov, Ian R Henderson, Jeffery S Cox, Ronald D Vale
How phospholipids are trafficked between the bacterial inner and outer membranes through the hydrophilic space of the periplasm is not known. We report that members of the mammalian cell entry (MCE) protein family form hexameric assemblies with a central channel capable of mediating lipid transport. The E. coli MCE protein, MlaD, forms a ring associated with an ABC transporter complex in the inner membrane. A soluble lipid-binding protein, MlaC, ferries lipids between MlaD and an outer membrane protein complex...
April 6, 2017: Cell
https://www.readbyqxmd.com/read/28386603/unidirectional-transport-mechanism-in-an-atp-dependent-exporter
#14
Yanyan Xu, Anna Seelig, Simon Bernèche
ATP-binding cassette (ABC) transporters use the energy of ATP binding and hydrolysis to move a large variety of compounds across biological membranes. P-glycoprotein, involved in multidrug resistance, is the most investigated eukaryotic family member. Although a large number of biochemical and structural approaches have provided important information, the conformational dynamics underlying the coupling between ATP binding/hydrolysis and allocrite transport remains elusive. To tackle this issue, we performed molecular dynamic simulations for different nucleotide occupancy states of Sav1866, a prokaryotic P-glycoprotein homologue...
March 22, 2017: ACS Central Science
https://www.readbyqxmd.com/read/28367152/genome-wide-identification-evolution-and-expression-analysis-of-the-atp-binding-cassette-transporter-gene-family-in-brassica-rapa
#15
Chao Yan, Weike Duan, Shanwu Lyu, Ying Li, Xilin Hou
ATP-binding cassette (ABC) proteins can act as transporters of different substrates across biological membranes by hydrolyzing ATP. However, little information is available about ABC transporters in Brassica rapa, an important leafy vegetable. In the present study, we carried out genome-wide identification, characterization and molecular evolution analyses of ABC gene family in B. rapa and 9 other plant species. A total of 179 B. rapa ABC genes (BraABCs) were identified. Among them, 173 BraABCs were identified on 10 chromosomes...
2017: Frontiers in Plant Science
https://www.readbyqxmd.com/read/28339967/placental-transporter-localization-and-expression-in-the-human-the-importance-of-species-sex-and-gestational-age-differences%C3%A2
#16
Natasha Walker, Panagiotis Filis, Ugo Soffientini, Michelle Bellingham, Peter J O'Shaughnessy, Paul A Fowler
The placenta is a critical organ during pregnancy, essential for the provision of an optimal intrauterine environment, with fetal survival, growth, and development relying on correct placental function. It must allow nutritional compounds and relevant hormones to pass into the fetal bloodstream and metabolic waste products to be cleared. It also acts as a semipermeable barrier to potentially harmful chemicals, both endogenous and exogenous. Transporter proteins allow for bidirectional transport and are found in the syncytiotrophoblast of the placenta and endothelium of fetal capillaries...
April 1, 2017: Biology of Reproduction
https://www.readbyqxmd.com/read/28323029/the-dopamine-d3-receptor-antagonists-pg01037-ngb2904-sb277011a-and-u99194-reverse-abcg2-transporter-mediated-drug%C3%A2-resistance-in-cancer-cell-lines
#17
Noor Hussein, Haneen Amawi, Chandrabose Karthikeyan, F Scott Hall, Roopali Mittal, Piyush Trivedi, Charles R Ashby, Amit K Tiwari
The ATP - binding cassette (ABC) family G2 (ABCG2) transporters are known to produce multidrug resistance (MDR) in cancer, thereby limiting the clinical response to chemotherapy. Molecular modeling data indicated that certain dopamine (DA) D3 receptor antagonists had a significant binding affinity for ABCG2 transporter. Therefore, in this in vitro study, we determined the effect of the D3 receptor antagonists PG01037, NGB2904, SB277011A, and U99194 on MDR resulting from the overexpression of ABCG2 transporters...
March 18, 2017: Cancer Letters
https://www.readbyqxmd.com/read/28316142/evolutionary-ecology-of-beta-lactam-gene-clusters-in-animals
#18
Wouter Suring, Karen Meusemann, Alexander Blanke, Janine Mariën, Tim Schol, Valeria Agamennone, Anna Faddeeva-Vakhrusheva, Matty P Berg, Bram Brouwer, Nico M van Straalen, Dick Roelofs
Beta-lactam biosynthesis was thought to occur only in fungi and bacteria, but we recently reported the presence of isopenicillin N synthase in a soil-dwelling animal, Folsomia candida. However, it has remained unclear whether this gene is part of a larger beta-lactam biosynthesis pathway and how widespread the occurrence of penicillin biosynthesis is among animals. Here, we analyzed the distribution of beta-lactam biosynthesis genes throughout the animal kingdom and identified a beta-lactam gene cluster in the genome of F...
March 18, 2017: Molecular Ecology
https://www.readbyqxmd.com/read/28300954/selection-of-words-for-implementation-of-the-picture-exchange-communication-system-pecs-in-non-verbal-autistic-children
#19
Carine Ferreira, Monica Bevilacqua, Mariana Ishihara, Aline Fiori, Aline Armonia, Jacy Perissinoto, Ana Carina Tamanaha
Purpose: It is known that some autistic individuals are considered non-verbal, since they are unable to use verbal language and barely use gestures to compensate for the absence of speech. Therefore, these individuals' ability to communicate may benefit from the use of the Picture Exchange Communication System - PECS. The objective of this study was to verify the most frequently used words in the implementation of PECS in autistic children, and on a complementary basis, to analyze the correlation between the frequency of these words and the rate of maladaptive behaviors...
March 9, 2017: CoDAS
https://www.readbyqxmd.com/read/28293855/growth-hormone-receptor-knockdown-sensitizes-human-melanoma-cells-to-chemotherapy-by-attenuating-expression-of-abc-drug-efflux-pumps
#20
Reetobrata Basu, Nicholas Baumgaertel, Shiyong Wu, John J Kopchick
Melanoma remains one of the most therapy-resistant forms of human cancer despite recent introductions of highly efficacious targeted therapies. The intrinsic therapy resistance of human melanoma is largely due to abundant expression of a repertoire of xenobiotic efflux pumps of the ATP-binding cassette (ABC) transporter family. Here, we report that GH action is a key mediator of chemotherapeutic resistance in human melanoma cells. We investigated multiple ABC efflux pumps (ABCB1, ABCB5, ABCB8, ABCC1, ABCC2, ABCG1, and ABCG2) reportedly associated with melanoma drug resistance in different human melanoma cells and tested the efficacy of five different anti-cancer compounds (cisplatin, doxorubicin, oridonin, paclitaxel, vemurafenib) with decreased GH action...
March 14, 2017: Hormones & Cancer
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