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familial aggregation

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https://www.readbyqxmd.com/read/28806108/the-composition-of-a-protein-aggregate-modulates-the-specificity-and-efficiency-of-its-autophagic-degradation
#1
Gangming Zhang, Long Lin, Di Qi, Hong Zhang
The mechanism underlying autophagic degradation of a protein aggregate remains largely unknown. A family of receptor proteins that simultaneously bind to the cargo and the Atg8 family of autophagy proteins (such as the MAP1LC3/LC3 subfamily) has been shown to confer cargo selectivity. The selectivity and efficiency of protein aggregate removal is also modulated by scaffold proteins that interact with receptor proteins and ATG proteins. During C. elegans embryogenesis, autophagic clearance of the cargoes PGL-1 and PGL-3 requires the receptor protein SEPA-1 and the scaffold protein EPG-2...
August 14, 2017: Autophagy
https://www.readbyqxmd.com/read/28805315/a-comparison-of-clinical-and-immunologic-phenotypes-in-familial-and-sporadic-forms-of-common-variable-immunodeficiency
#2
Amir Valizadeh, Reza Yazdani, Gholamreza Azizi, Hassan Abolhassani, Asghar Aghamohammadi
Common variable immunodeficiency (CVID) is the most frequent symptomatic primary immunodeficiency disease and its prevalence varies significantly among different population. Minority of CVID patients present a familial aggregation suggesting a higher probability of heritable genetic defects. A total of 235 registered CVID patients were evaluated in this cohort study. Familial and sporadic patients were stratified and demographic information, clinical records, laboratory and molecular data were compared among these two groups of patients...
August 11, 2017: Scandinavian Journal of Immunology
https://www.readbyqxmd.com/read/28800542/digitoflavone-dg-attenuates-lps-induced-acute-lung-injury-through-reducing-oxidative-stress-and-inflammatory-response-dependent-on-the-suppression-of-txnip-nlrp3-and-nf-%C3%AE%C2%BAb
#3
Min Meng
Acute lung injury is a severe disease with a high rate of mortality. Digitoflavone (DG) was suggested to possess bioactivities to reduce oxidative stress, inflammation and to regulate apoptosis. In our study, the normal saline, a low dose of DG (12.5mg/kg), a medium dose of DG (25mg/kg) and a high dose of DG (50mg/kg) were administered to male C57BL/6 mice by gavage. And then, the mice were intratracheally injected with either normal saline or lipopolysaccharide (LPS). We found that DG ameliorated LPS-induced lung injury and platelets activation, accompanied with reduced CD41 expression and neutrophil platelet aggregates (NPAs)...
August 8, 2017: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/28799234/arhgef10-knockout-inhibits-platelet-aggregation-and-protects-mice-from-thrombus-formation
#4
Dai-Hua Lu, Chun-Chieh Hsu, Shiu-Wen Huang, Huang-Ju Tu, Tur-Fu Huang, Houng-Chi Liou, Hsiao-Mei Liao, Chia-Hsiang Chen, Wen-Mei Fu, Susan Shur-Fen Gau
BACKGROUND: ARHGEF10, a member of Rho guanine nucleotide exchange factors (GEF) family, stimulates the Rho GTPases. Rho GTPases have been reported to regulate a variety of cellular behaviors such as cell polarity, cytoskeletal organization and gene transcription. ARHGEF10 SNPs are linked with the risk of ischemic stroke. However, the role of ARHGEF10 in platelet function remains unknown. OBJECTIVE: To examine the role of ARHGEF10 in platelet function. METHODS: ARHGEF10 knockout mice were generated...
August 11, 2017: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/28797885/mitophagy-in-neurodegenerative-diseases
#5
REVIEW
Carlo Rodolfo, Silvia Campello, Francesco Cecconi
Neurodegenerative diseases, such as Parkinson's disease (PD), Alzheimer's disease (AD), Huntington's disease (HD), and Amyotrophic Lateral Sclerosis (ALS), are a complex "family" of pathologies, characterised by the progressive loss of neurons and/or neuronal functions, leading to severe physical and cognitive inabilities in affected patients. These syndromes, despite differences in the causative events, the onset, and the progression of the disease, share as common features the presence of aggregate-prone neuro-toxic proteins, in the form of aggresomes and/or inclusion bodies, perturbing cellular homeostasis and neuronal function (Popovic et al...
August 7, 2017: Neurochemistry International
https://www.readbyqxmd.com/read/28790323/mitochondrial-division-inhibitor-1-is-neuroprotective-in-the-a53t-%C3%AE-synuclein-rat-model-of-parkinson-s-disease
#6
Simone Bido, Federico N Soria, Rebecca Z Fan, Erwan Bezard, Kim Tieu
Alpha-synuclein (α-syn) is involved in both familial and sporadic Parkinson's disease (PD). One of the proposed pathogenic mechanisms of α-syn mutations is mitochondrial dysfunction. However, it is not entirely clear the impact of impaired mitochondrial dynamics induced by α-syn on neurodegeneration and whether targeting this pathway has therapeutic potential. In this study we evaluated whether inhibition of mitochondrial fission is neuroprotective against α-syn overexpression in vivo. To accomplish this goal, we overexpressed human A53T-α- synuclein (hA53T-α-syn) in the rat nigrostriatal pathway, with or without treatment using the small molecule Mitochondrial Division Inhibitor-1 (mdivi-1), a putative inhibitor of the mitochondrial fission Dynamin-Related Protein-1 (Drp1)...
August 8, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28790170/dimerization-of-the-transmembrane-domain-of-amyloid-precursor-protein-is-determined-by-residues-around-the-gamma-secretase-cleavage-sites
#7
Yan Yan, Ting-Hai Xu, Kaleeckal G Harikumar, Laurence J Miller, Karsten Melcher, H Eric Xu
One of the hallmarks of Alzheimer's disease (AD) is the formation of extracellular amyloid plaques that consist mainly of abnormally aggregated forms of amyloid β (Aβ) peptides. These peptides are generated by γ-secretase-catalyzed cleavage of a dimeric membrane-bound C-terminal fragment (C99) of the amyloid precursor protein (APP). While C99 homodimerization has been linked to Aβ; production and changes in the aggregation-determining Aβ42/Aβ40 ratio, the motif through which C99 dimerizes has remained controversial...
August 8, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28789927/commentary-on-inherited-dna-repair-gene-mutations-in-men-with-metastatic-prostate-cancer-pritchard-cc-mateo-j-walsh-mf-de-sarkar-n-abida-w-beltran-h-garofalo-a-gulati-r-carreira-s-eeles-r-elemento-o-rubin-ma-robinson-d-lonigro-r-hussain-m-chinnaiyan-a-vinson
#8
Byron H Lee
BACKGROUND: Inherited mutations in DNA-repair genes such as BRCA2 are associated with increased risks of lethal prostate cancer. Although the prevalence of germline mutations in DNA-repair genes among men with localized prostate cancer who are unselected for family predisposition is insufficient to warrant routine testing, the frequency of such mutations in patients with metastatic prostate cancer has not been established. METHODS: We recruited 692 men with documented metastatic prostate cancer who were unselected for family history of cancer or age at diagnosis...
August 5, 2017: Urologic Oncology
https://www.readbyqxmd.com/read/28773849/combined-effects-of-non-conforming-fly-ash-and-recycled-masonry-aggregates-on-mortar-properties
#9
Ana Isabel Torres-Gómez, Enrique F Ledesma, Rocio Otero, José Maria Fernández, José Ramón Jiménez, Jorge de Brito
This work evaluates the effects of using non-conforming fly ash (Nc-FA) generated in a thermoelectric power plant as filler material for mortars made with natural sand (NA) and recycled sand from masonry waste (FRMA). The incorporation of powdered recycled masonry filler (R-MF) is also tested as an alternative to siliceous filler (Si-F). Three families of mortars were designed to study: the effect of replacing Si-F with Nc-FA on mortars made with NA; the effect of replacing Si-F with Nc-FA on mortars made with 50% of NA and 50% of FRMA; and the effect of replacing Si-F with R-MF on mortars made with NA and FRMA...
August 25, 2016: Materials
https://www.readbyqxmd.com/read/28772107/family-specific-aggregation-of-lipid-gwas-variants-confers-the-susceptibility-to-familial-hypercholesterolemia-in-a-large-austrian-family
#10
Elina Nikkola, Arthur Ko, Marcus Alvarez, Rita M Cantor, Kristina Garske, Elliot Kim, Stephanie Gee, Alejandra Rodriguez, Reinhard Muxel, Niina Matikainen, Sanni Söderlund, Mahdi M Motazacker, Jan Borén, Claudia Lamina, Florian Kronenberg, Wolfgang J Schneider, Aarno Palotie, Markku Laakso, Marja-Riitta Taskinen, Päivi Pajukanta
BACKGROUND AND AIMS: Hypercholesterolemia confers susceptibility to cardiovascular disease (CVD). Both serum total cholesterol (TC) and LDL-cholesterol (LDL-C) exhibit a strong genetic component (heritability estimates 0.41-0.50). However, a large part of this heritability cannot be explained by the variants identified in recent extensive genome-wide association studies (GWAS) on lipids. Our aim was to find genetic causes leading to high LDL-C levels and ultimately CVD in a large Austrian family presenting with what appears to be autosomal dominant inheritance for familial hypercholesterolemia (FH)...
July 22, 2017: Atherosclerosis
https://www.readbyqxmd.com/read/28769758/the-role-of-bip-retrieval-by-the-kdel-receptor-in-the-early-secretory-pathway-and-its-effect-on-protein-quality-control-and-neurodegeneration
#11
REVIEW
Hisayo Jin, Mari Komita, Tomohiko Aoe
Protein quality control in the early secretory pathway is a ubiquitous eukaryotic mechanism for adaptation to endoplasmic reticulum (ER) stress. An ER molecular chaperone, immunoglobulin heavy chain-binding protein (BiP), is one of the essential components in this process. BiP interacts with nascent proteins to facilitate their folding. BiP also plays an important role in preventing aggregation of misfolded proteins and regulating the ER stress response when cells suffer various injuries. BiP is a member of the 70-kDa heat shock protein (HSP70) family of molecular chaperones that resides in the ER...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/28768816/functional-specialization-of-cellulose-synthase-isoforms-in-a-moss-shows-parallels-with-seed-plants
#12
Joanna H Norris, Xingxing Li, Shixin Huang, Allison van de Meene, Mai L Tran, Erin Killeavy, Arielle M Chaves, Bailey Mallon, Danielle Mercure, Hwei-Ting Tan, Rachel A Burton, Monika Susanne Doblin, Seong H Kim, Alison W Roberts
The secondary cell walls of tracheary elements and fibers are rich in cellulose microfibrils that are helically oriented and laterally aggregated. Support cells within the leaf midribs of mosses deposit cellulose-rich secondary cell walls, but their biosynthesis and microfibril organization have not been examined. Although the Cellulose Synthase (CESA) gene families of mosses and seed plants diversified independently, CESA knockout analysis in the moss Physcomitrella patens revealed parallels in CESA functional specialization of Arabidopsis and P...
August 2, 2017: Plant Physiology
https://www.readbyqxmd.com/read/28768772/a-computational-combinatorial-approach-identifies-a-protein-inhibitor-of-superoxide-dismutase-1-misfolding-aggregation-and-cytotoxicity
#13
Victor Banerjee, Ofek Oren, Efrat Ben-Zeev, Ran Taube, Stanislav Engel, Niv Papo
Molecular agents that specifically bind and neutralize misfolded and toxic superoxide dismutase 1 (SOD1) mutant proteins may find application in attenuating the disease progression of familial amyotrophic lateral sclerosis (fALS). However, high structural similarities between the wild-type and mutant SOD1 proteins limit the utility of this approach. Here, we addressed this challenge by converting a promiscuous natural human IgG binding domain, the hyperthermophilic variant of protein G (HTB1), into a highly specific aggregation inhibitor (designated HTB1M) of two fALS-linked SOD1 mutants, SOD1G93A and SOD1G85R...
August 2, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28759816/phospholamban-immunostaining-is-a-highly-sensitive-and-specific-method-for-diagnosing-phospholamban-p-arg14del-cardiomyopathy
#14
Wouter P Te Rijdt, Z Joy van der Klooster, Edgar T Hoorntje, Jan D H Jongbloed, Paul A van der Zwaag, Folkert W Asselbergs, Dennis Dooijes, Rudolf A de Boer, J Peter van Tintelen, Maarten P van den Berg, Aryan Vink, Albert J H Suurmeijer
Phospholamban (PLN) p.Arg14del cardiomyopathy is associated with an increased risk of malignant ventricular arrhythmias and severe heart failure and a poor prognosis from late adolescence. It can be diagnosed in whole heart specimens, but rarely in right ventricular biopsy specimens, by PLN immunohistochemistry showing PLN-containing aggregates concentrated in cardiomyocytes in dense perinuclear aggresomes. The purpose of this study was to determine whether PLN immunohistochemistry can be used to diagnose PLN p...
May 30, 2017: Cardiovascular Pathology: the Official Journal of the Society for Cardiovascular Pathology
https://www.readbyqxmd.com/read/28759722/perturbation-in-long-range-contacts-modulates-the-kinetics-of-amyloid-formation-in-%C3%AE-synuclein-familial-mutants
#15
Priyatosh Ranjan, Ashutosh Kumar
The characteristic cross-β-sheet-rich amyloid fibril formation by intrinsically disordered α-synuclein proteins is one of the pathological hallmarks of Parkinson's disease. Although unstructured in solution, the presence of autoinhibitory long-range contacts in monomeric form prevents protein aggregation. Out of the various factors that affect the rate of amyloid formation, familial mutations play an important role in α-synuclein aggregation. Even though these mutations are believed to form an aggregation-prone intermediate by perturbing these contacts, the correlation between perturbation and rate of fibril formation is not very straightforward...
August 14, 2017: ACS Chemical Neuroscience
https://www.readbyqxmd.com/read/28758966/variability-of-creatine-metabolism-genes-in-children-with-autism-spectrum-disorder
#16
Jessie M Cameron, Valeriy Levandovskiy, Wendy Roberts, Evdokia Anagnostou, Stephen Scherer, Alvin Loh, Andreas Schulze
Creatine deficiency syndrome (CDS) comprises three separate enzyme deficiencies with overlapping clinical presentations: arginine:glycine amidinotransferase (GATM gene, glycine amidinotransferase), guanidinoacetate methyltransferase (GAMT gene), and creatine transporter deficiency (SLC6A8 gene, solute carrier family 6 member 8). CDS presents with developmental delays/regression, intellectual disability, speech and language impairment, autistic behaviour, epileptic seizures, treatment-refractory epilepsy, and extrapyramidal movement disorders; symptoms that are also evident in children with autism...
July 31, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28757312/high-paternal-testosterone-may-protect-against-postpartum-depressive-symptoms-in-fathers-but-confer-risk-to-mothers-and-children
#17
Darby E Saxbe, Christine Dunkel Schetter, Clarissa D Simon, Emma K Adam, Madeleine U Shalowitz
Following the birth of an infant, decreases in testosterone and increases in depressive symptoms have been observed in fathers. Paternal testosterone may reflect fathers' investment in pair-bonding and paternal caregiving and, as such, may be associated with maternal and familial well-being. This study tests associations between paternal testosterone, paternal and maternal postpartum depressive symptoms, and subsequent family functioning. Within 149 couples, fathers provided testosterone samples when infants were approximately nine months old and both parents reported on postpartum depressive symptoms at two, nine, and 15months postpartum...
July 27, 2017: Hormones and Behavior
https://www.readbyqxmd.com/read/28753054/parents-perception-of-receiving-family-centered-care-for-their-children-with-physical-disabilities-a-meta-analysis
#18
Nihad A Almasri, Mihee An, Robert J Palisano
AIMS: Understanding parent perceptions of family-centered care (FCC) is important to improve processes and outcomes of children's services. OBJECTIVE: A systematic review and meta-analysis of research on the Measures of Processes of Care (MPOC-20) were performed to determine the extent parents of children with physical disabilities perceive they received FCC. METHODS: A comprehensive literature search was conducted using four databases. A total of 129 studies were retrieved; 15 met the criteria for the synthesis...
July 28, 2017: Physical & Occupational Therapy in Pediatrics
https://www.readbyqxmd.com/read/28752392/gata2-gene-analysis-in-several-forms-of-hematological-malignancies-including-familial-aggregations
#19
Walid Sabri Hamadou, Rahma Mani, Sawsen Besbes, Violaine Bourdon, Yosra Ben Youssef, François Eisinger, Véronique Mari, Paul Gesta, Hélène Dreyfus, Valérie Bonadona, Catherine Dugast, Hélène Zattara, Laurence Faivre, Testsuro Noguchi, Abderrahim Khélif, Hagay Sobol, Zohra Soua
The genetic predisposition to familial hematological malignancies has been previously reported highlighting inherited gene mutations. Several genes have been reported but genetic basis remains not well defined. In this study, we extended our investigation to a potential candidate GATA2 gene which was analyzed by direct sequencing in 119 cases including familial aggregations with a variety of hematological malignancies and sporadic acute leukemia belonging to Tunisian and French populations. We reported a deleterious p...
July 27, 2017: Annals of Hematology
https://www.readbyqxmd.com/read/28752333/significance-of-long-chain-polyunsaturated-fatty-acids-in-human-health
#20
REVIEW
Rafael Zárate, Nabil El Jaber-Vazdekis, Noemi Tejera, José A Pérez, Covadonga Rodríguez
In the last decades, the development of new technologies applied to lipidomics has revitalized the analysis of lipid profile alterations and the understanding of the underlying molecular mechanisms of lipid metabolism, together with their involvement in the occurrence of human disease. Of particular interest is the study of omega-3 and omega-6 long chain polyunsaturated fatty acids (LC-PUFAs), notably EPA (eicosapentaenoic acid, 20:5n-3), DHA (docosahexaenoic acid, 22:6n-3), and ARA (arachidonic acid, 20:4n-6), and their transformation into bioactive lipid mediators...
December 2017: Clinical and Translational Medicine
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