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https://www.readbyqxmd.com/read/28636205/progressive-scar14-with-unclear-speech-developmental-delay-tremor-and-behavioral-problems-caused-by-a-homozygous-deletion-of-the-sptbn2-pleckstrin-homology-domain
#1
Esra Yıldız Bölükbaşı, Muhammad Afzal, Sara Mumtaz, Nafees Ahmad, Sajid Malik, Aslıhan Tolun
We report on nine members of a consanguineous Pakistani family with primary presentation of intellectual disability, developmental delay, limb and gait ataxia, behavioral and speech problems, and tremor. By linkage mapping and exome sequencing we identified novel homozygous splicing variant c.6375-1G>C in SPTBN2. To date, only two other SPTBN2 mutations with recessive pattern of inheritance causing SCAR14 (spinocerebellar ataxia, autosomal recessive 14) that manifest with developmental ataxia and cognitive impairment, or cerebellar ataxia, mental retardation, and pyramidal signs have been reported...
June 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28636006/copper-ion-interaction-with-the-rnase-catalytic-site-fragment-of-the-angiogenin-protein-an-experimental-and-theoretical-investigation
#2
Antonio Magrì, Giovanni Tabbì, Raffaella Breglia, Luca De Gioia, Piercarlo Fantucci, Maurizio Bruschi, Raffaele P Bonomo, Diego La Mendola
The angiogenin protein (Ang) is a member of the vertebrate-specific secreted ribonucleases and one of the most potent angiogenic factors known. Ang is a normal constituent of human plasma and its concentration increases under some physiological and pathological conditions to promote neovascularization. Ang was originally identified as an angiogenic tumour factor, but its biological activity has been found to extend from inducing angiogenesis to promoting cell survival in different neurodegenerative diseases...
June 21, 2017: Dalton Transactions: An International Journal of Inorganic Chemistry
https://www.readbyqxmd.com/read/28630157/pore-formation-by-dimeric-bak-and-bax-an-unusual-pore
#3
REVIEW
Rachel T Uren, Sweta Iyer, Ruth M Kluck
Apoptotic cell death via the mitochondrial pathway occurs in all vertebrate cells and requires the formation of pores in the mitochondrial outer membrane. Two Bcl-2 protein family members, Bak and Bax, form these pores during apoptosis, and how they do so has been investigated for the last two decades. Many of the conformation changes that occur during their transition to pore-forming proteins have now been delineated. Notably, biochemical, biophysical and structural studies indicate that symmetric homodimers are the basic unit of pore formation...
August 5, 2017: Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences
https://www.readbyqxmd.com/read/28630139/functional-interfaces-between-ticam-2-tram-and-ticam-1-trif-in-tlr4-signaling
#4
REVIEW
Kenji Funami, Misako Matsumoto, Hiroyuki Oshiumi, Fuyuhiko Inagaki, Tsukasa Seya
Toll-like receptor 4 (TLR4) recognizes lipopolysaccharide (LPS), produces pro-inflammatory cytokines and type I interferons, and associates with a trigger of endotoxin shock. TLR4 is interacted with a TIR domain-containing adaptor molecule-2 (TICAM-2)/TRAM [TRIF (TIR domain-containing adaptor-inducing interferon-β)-related adaptor molecule] via its Toll-interleukin-1 receptor homology (TIR) domain. TICAM-2 acts as a scaffold protein and activates TIR domain-containing adaptor molecule-1 (TICAM-1)/TRIF. According to the structural analysis by NMR, TICAM-2 interacts with TICAM-1 by the acidic amino acids motif, E87/D88/D89...
June 19, 2017: Biochemical Society Transactions
https://www.readbyqxmd.com/read/28630090/t-cell-transcriptomes-from-paroxysmal-nocturnal-hemoglobinuria-patients-reveal-novel-signaling-pathways
#5
Kohei Hosokawa, Sachiko Kajigaya, Keyvan Keyvanfar, Wangmin Qiao, Yanling Xie, Danielle M Townsley, Xingmin Feng, Neal S Young
Paroxysmal nocturnal hemoglobinuria (PNH) is a rare acquired disorder originating from hematopoietic stem cells and is a life-threating disease characterized by intravascular hemolysis, bone marrow (BM) failure, and venous thrombosis. The etiology of PNH is a somatic mutation in the phosphatidylinositol glycan class A gene (PIG-A) on the X chromosome, which blocks synthesis of the glycolipid moiety and causes deficiency in GPI-anchored proteins. PNH is closely related to aplastic anemia, in which T cells mediate destruction of BM...
June 19, 2017: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/28629218/two-dimensional-plasmonic-nanoparticle-as-a-nanoscale-sensor-to-probe-polymer-brush-formation
#6
Assad Ullah Khan, Clayton Scruggs, David Hicks, Guoliang Liu
Conventional analysis and characterization of polymer brush formation relies on laborious methods that use quartz crystal microbalance, atomic force microscope, microcantilever, or other tools that measure concentration change of solutions. Herein we develop a simple and easy method that utilizes intrinsically-flat two-dimensional (2D) plasmonic nanoparticles as sensors for unveiling the mechanism of polymer brush formation on surfaces. Via ultraviolet-visible spectroscopy, the plasmonic nanoparticles can be used to determine the amount of polymers near the surface in situ...
June 20, 2017: Analytical Chemistry
https://www.readbyqxmd.com/read/28628083/molecular-basis-of-selective-mitochondrial-fusion-by-heterotypic-action-between-opa1-and-cardiolipin
#7
Tadato Ban, Takaya Ishihara, Hiroto Kohno, Shotaro Saita, Ayaka Ichimura, Katsumi Maenaka, Toshihiko Oka, Katsuyoshi Mihara, Naotada Ishihara
Mitochondria are highly dynamic organelles that undergo frequent fusion and fission. Optic atrophy 1 (OPA1) is an essential GTPase protein for both mitochondrial inner membrane (IM) fusion and cristae morphology. Under mitochondria-stress conditions, membrane-anchored L-OPA1 is proteolytically cleaved to form peripheral S-OPA1, leading to the selection of damaged mitochondria for mitophagy. However, molecular details of the selective mitochondrial fusion are less well understood. Here, we showed that L-OPA1 and cardiolipin (CL) cooperate in heterotypic mitochondrial IM fusion...
June 19, 2017: Nature Cell Biology
https://www.readbyqxmd.com/read/28626366/current-developments-in-mobilization-of-hematopoietic-stem-and-progenitor-cells-and-their-interaction-with-niches-in-bone-marrow
#8
REVIEW
Rudolf Richter, Wolfgang Forssmann, Reinhard Henschler
The clinical application of hematopoietic stem and progenitor cells (HSPCs) has evolved from a highly experimental stage in the 1980s to a currently clinically established treatment for more than 20,000 patients annually who suffer from hematological malignancies and other severe diseases. Studies in numerous murine models have demonstrated that HSPCs reside in distinct niches within the bone marrow environment. Whereas transplanted HSPCs travel through the bloodstream and home to sites of hematopoiesis, HSPCs can be mobilized from these niches into the blood either physiologically or induced by pharmaceutical drugs...
June 2017: Transfusion Medicine and Hemotherapy
https://www.readbyqxmd.com/read/28624468/fish-mass-immunization-against-virus-with-recombinant-spiny-bacterins
#9
Julio Coll
Bacterins obtained from recombinant bacteria displaying heterologous antigens in its surface coded by prokaryotic rather than eukaryotic expression plasmids (here called "spiny" bacterins or spinycterins), have been used to increase fish immunogenicity of recombinant viral protein fragments. To explore their immunogenicity, five bacterial-specific membrane anchor-motifs characterized in the literature (Nmistic, Mistic, NTD, YAIN and YBEL) were genetically fused to the immunorelevant cystein-free 117 amino acid fragment II from the ORF149 of cyprinid herpes virus 3 (frgIICyHV3)...
June 15, 2017: Fish & Shellfish Immunology
https://www.readbyqxmd.com/read/28624211/translation-of-angiotensin-converting-enzyme-2-upon-liver-and-lung-targeted-delivery-of-optimized-chemically-modified-mrna
#10
Eva Schrom, Maja Huber, Manish Aneja, Christian Dohmen, Daniela Emrich, Johannes Geiger, Günther Hasenpusch, Annika Herrmann-Janson, Verena Kretzschmann, Olga Mykhailyk, Tamara Pasewald, Prajakta Oak, Anne Hilgendorff, Dirk Wohlleber, Heinz-Gerd Hoymann, Dirk Schaudien, Christian Plank, Carsten Rudolph, Rebekka Kubisch-Dohmen
Changes in lifestyle and environmental conditions give rise to an increasing prevalence of liver and lung fibrosis, and both have a poor prognosis. Promising results have been reported for recombinant angiotensin-converting enzyme 2 (ACE2) protein administration in experimental liver and lung fibrosis. However, the full potential of ACE2 may be achieved by localized translation of a membrane-anchored form. For this purpose, we advanced the latest RNA technology for liver- and lung-targeted ACE2 translation...
June 16, 2017: Molecular Therapy. Nucleic Acids
https://www.readbyqxmd.com/read/28623976/adam28-localizes-to-hla-g-trophoblasts-and-promotes-column-cell-outgrowth
#11
L C De Luca, H T Le, D L Mara, A G Beristain
INTRODUCTION: Trophoblast progenitor cell differentiation towards the extravillous trophoblast (EVT) lineage initiates within proximal regions of anchoring columns of first trimester placental villi. While molecular processes controlling the initial stages of progenitor cell differentiation along the EVT pathway have been described, much remains unknown about factors important in distal column cell differentiation into invasive EVTs. ADAMs are proteases that regulate growth factor signaling, cell-matrix adhesion, and matrix proteolysis, and thus impact many processes relevant in placentation...
July 2017: Placenta
https://www.readbyqxmd.com/read/28621907/role-of-cleavage-and-polyadenylation-specificity-factor-100-anchoring-poly-a-sites-and-modulating-transcription-termination
#12
Juncheng Lin, Ruqiang Xu, Xiaohui Wu, Yingjia Shen, Qingshun Q Li
CPSF100 is a core component of the Cleavage and Polyadenylation Specificity Factor (CPSF) complex for the 3'-end formation of mRNA, but it still has no clear functional assignment. CPSF100 was reported to play a role in RNA silencing and promote flowering in Arabidopsis. However, the molecular mechanisms underlying these phenomena are not fully understood. Our genetics analyses indicate that plants with a hypomorphic mutant of CPSF100 (esp5) show defects in embryogenesis, reduced seed production, or altered root morphology...
June 16, 2017: Plant Journal: for Cell and Molecular Biology
https://www.readbyqxmd.com/read/28621802/glypican-3-a-promising-biomarker-for-hepatocellular-carcinoma-diagnosis-and-treatment
#13
REVIEW
Fubo Zhou, Wenting Shang, Xiaoling Yu, Jie Tian
Liver cancer is the second leading cause of cancer-related deaths, and hepatocellular carcinoma (HCC) is the most common type. Therefore, molecular targets are urgently required for the early detection of HCC and the development of novel therapeutic approaches. Glypican-3 (GPC3), an oncofetal proteoglycan anchored to the cell membrane, is normally detected in the fetal liver but not in the healthy adult liver. However, in HCC patients, GPC3 is overexpressed at both the gene and protein levels, and its expression predicts a poor prognosis...
June 16, 2017: Medicinal Research Reviews
https://www.readbyqxmd.com/read/28621428/loss-of-thrombospondin-reveals-a-possible-role-for-the-extracellular-matrix-in-chordotonal-cap-cell-elongation
#14
Rina T Greenblatt Ben-El, Abeer Hassan, Adi Salzberg
In the Drosophila larva, major proprioceptive input is provided to the brain by sub-epidermal stretch receptors called chordotonal organs (ChO). Similarly to the body wall muscle that needs to be attached on both of its sides to the larval exoskeleton in order to generate movement, the sensory unit of a ChO must be stably anchored to the cuticle on both of its sides in order to sense the relative displacement of body parts. Through an RNAi screen we have identified thrombospondin (Tsp), a secreted calcium binding glycoprotein, as a critical component in the anchoring of ChOs to the cuticle...
2017: International Journal of Developmental Biology
https://www.readbyqxmd.com/read/28620585/identification-of-a-large-family-of-slam-dependent-surface-lipoproteins-in-gram-negative-bacteria
#15
Yogesh Hooda, Christine C L Lai, Trevor F Moraes
The surfaces of many Gram-negative bacteria are decorated with soluble proteins anchored to the outer membrane via an acylated N-terminus; these proteins are referred to as surface lipoproteins or SLPs. In Neisseria meningitidis, SLPs such as transferrin-binding protein B (TbpB) and factor-H binding protein (fHbp) are essential for host colonization and infection because of their essential roles in iron acquisition and immune evasion, respectively. Recently, we identified a family of outer membrane proteins called Slam (Surface lipoprotein assembly modulator) that are essential for surface display of neisserial SLPs...
2017: Frontiers in Cellular and Infection Microbiology
https://www.readbyqxmd.com/read/28620036/substrate-selectivity-in-the-zdhhc-family-of-s-acyltransferases
#16
REVIEW
Kimon Lemonidis, Christine Salaun, Marianna Kouskou, Cinta Diez-Ardanuy, Luke H Chamberlain, Jennifer Greaves
S-acylation is a reversible lipid modification occurring on cysteine residues mediated by a family of membrane-bound 'zDHHC' enzymes. S-acylation predominantly results in anchoring of soluble proteins to membrane compartments or in the trafficking of membrane proteins to different compartments. Recent work has shown that although S-acylation of some proteins may involve very weak interactions with zDHHC enzymes, a pool of zDHHC enzymes exhibit strong and specific interactions with substrates, thereby recruiting them for S-acylation...
June 15, 2017: Biochemical Society Transactions
https://www.readbyqxmd.com/read/28619886/tubular-clathrin-ap-2-lattices-pinch-collagen-fibers-to-support-3d-cell-migration
#17
Nadia Elkhatib, Enzo Bresteau, Francesco Baschieri, Alba López Rioja, Guillaume van Niel, Stéphane Vassilopoulos, Guillaume Montagnac
Migrating cells often use focal adhesions in order to move. Focal adhesions are less prominent in cells migrating in three-dimensional (3D) as compared with 2D environments. We looked for alternative adhesion structures supporting cell migration. We analyzed the dynamics of clathrin-coated pits in cells migrating in a 3D environment of collagen fibers. Both topological cues and local engagement of integrins triggered the accumulation of clathrin-coated structures on fibers. Clathrin/adaptor protein 2 (AP-2) lattices pinched collagen fibers by adopting a tube-like morphology and regulated adhesion to fibers in an endocytosis-independent manner...
June 16, 2017: Science
https://www.readbyqxmd.com/read/28618199/lipid-interactions-modulate-the-structural-and-antigenic-properties-of-the-c-terminal-domain-of-the-malaria-antigen-merozoite-surface-protein-2
#18
Sreedam C Das, Rodrigo A V Morales, Jeffrey Seow, Krishnarjuna Bankala, Ravindu Dissanayake, Robin F Anders, Christopher A MacRaild, Raymond S Norton
Merozoite surface protein 2 (MSP2) is a highly abundant, GPI-anchored antigen on the malaria parasite Plasmodium falciparum. MSP2 induces an immune response in the context of natural infections and vaccine trials, and these responses are associated with protection from parasite infection. Recombinant MSP2 is highly disordered in solution but antigenic analyses suggest that it is more ordered on the merozoite surface. We have shown previously that the interaction of recombinant full-length MSP2 with lipid surfaces induces a conformational change in the conserved N-terminal region of MSP2, which contributes to epitope masking in this region...
June 15, 2017: FEBS Journal
https://www.readbyqxmd.com/read/28616799/dolichol-phosphate-mannose-synthase-a-glycosyltransferase-with-unity-in-molecular-diversities
#19
REVIEW
Dipak K Banerjee, Zhenbo Zhang, Krishna Baksi, Jesús E Serrano-Negrón
N-glycans provide structural and functional stability to asparagine-linked (N-linked) glycoproteins, and add flexibility. Glycan biosynthesis is elaborative, multi-compartmental and involves many glycosyltransferases. Failure to assemble N-glycans leads to phenotypic changes developing infection, cancer, congenital disorders of glycosylation (CDGs) among others. Biosynthesis of N-glycans begins at the endoplasmic reticulum (ER) with the assembly of dolichol-linked tetra-decasaccharide (Glc3Man9GlcNAc2-PP-Dol) where dolichol phosphate mannose synthase (DPMS) plays a central role...
June 14, 2017: Glycoconjugate Journal
https://www.readbyqxmd.com/read/28614950/grafting-of-architecture-controlled-poly-styrene-sodium-sulfonate-onto-titanium-surfaces-using-bio-adhesive-molecules-surface-characterization-and-biological-properties
#20
Hamza Chouirfa, Margaret D M Evans, David G Castner, Penny Bean, Dimitri Mercier, Anouk Galtayries, Céline Falentin-Daudré, Véronique Migonney
This contribution reports on grafting of bioactive polymers such as poly(sodium styrene sulfonate) (polyNaSS) onto titanium (Ti) surfaces. This grafting process uses a modified dopamine as an anchor molecule to link polyNaSS to the Ti surface. The grafting process combines reversible addition-fragmentation chain transfer polymerization, postpolymerization modification, and thiol-ene chemistry. The first step in the process is to synthetize architecture controlled polyNaSS with a thiol end group. The second step is the adhesion of the dopamine acrylamide (DA) anchor onto the Ti surfaces...
June 14, 2017: Biointerphases
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