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Dystroglycan

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https://www.readbyqxmd.com/read/29161591/cell-invasion-in%C3%A2-vivo-via-rapid-exocytosis-of-a-transient-lysosome-derived-membrane-domain
#1
Kaleb M Naegeli, Eric Hastie, Aastha Garde, Zheng Wang, Daniel P Keeley, Kacy L Gordon, Ariel M Pani, Laura C Kelley, Meghan A Morrissey, Qiuyi Chi, Bob Goldstein, David R Sherwood
Invasive cells use small invadopodia to breach basement membrane (BM), a dense matrix that encases tissues. Following the breach, a large protrusion forms to clear a path for tissue entry by poorly understood mechanisms. Using RNAi screening for defects in Caenorhabditis elegans anchor cell (AC) invasion, we found that UNC-6(netrin)/UNC-40(DCC) signaling at the BM breach site directs exocytosis of lysosomes using the exocyst and SNARE SNAP-29 to form a large protrusion that invades vulval tissue. Live-cell imaging revealed that the protrusion is enriched in the matrix metalloprotease ZMP-1 and transiently expands AC volume by more than 20%, displacing surrounding BM and vulval epithelium...
November 20, 2017: Developmental Cell
https://www.readbyqxmd.com/read/29157305/evaluation-of-the-effect-of-a-floxed-neo-cassette-within-the-dystroglycan-dag1-gene
#2
Francesca Sciandra, Bianca Maria Scicchitano, Giulia Signorino, Maria Giulia Bigotti, Barbara Tavazzi, Francesca Lombardi, Manuela Bozzi, Gigliola Sica, Bruno Giardina, Sandra Blaess, Andrea Brancaccio
OBJECTIVE: Dystroglycan (DG) is an adhesion complex formed by two subunits, α-DG and β-DG. In skeletal muscle, DG is part of the dystrophin-glycoprotein complex that is crucial for sarcolemma stability and it is involved in a plethora of muscular dystrophy phenotypes. Due to the important role played by DG in skeletal muscle stability as well as in a wide variety of other tissues including brain and the peripheral nervous system, it is essential to investigate its genetic assembly and transcriptional regulation...
November 21, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/29137235/the-significance-of-post-translational-removal-of-%C3%AE-dg-n-in-early-stage-endometrial-cancer-development
#3
Sophea Heng, Jemma Evans, Lois A Salamonsen, Tom W Jobling, Guiying Nie
Endometrial cancer is one of the most common gynecological malignancies affecting post-menopausal women, yet the underlying mechanisms are not well understood. Dystroglycan (DG) is a large glycoprotein, consisting of α- and β-subunits that are non-covalently associated with each other. Modifications to α-DG have been linked to a variety of cancers, where the N-terminus of α-DG (α-DG-N) is post-translationally removed by a furin-like enzyme. However, the functional significance of α-DG-N removal is unknown...
October 10, 2017: Oncotarget
https://www.readbyqxmd.com/read/29134705/a-dystroglycan-mutation-p-cys667phe-associated-to-muscle-eye-brain-disease-with-multicystic-leucodystrophy-results-in-er-retention-of-the-mutant-protein
#4
Giulia Signorino, Sonia Covaceuszach, Manuela Bozzi, Wolfgang Hubner, Viola Mönkemöller, Petr V Konarev, Alberto Cassetta, Andrea Brancaccio, Francesca Sciandra
Dystroglycan (DG) is a cell adhesion complex composed by two subunits, the highly glycosylated α-DG and the transmembrane β-DG. In skeletal muscle, DG is involved in dystroglycanopathies, a group of heterogeneous muscular dystrophies characterized by a reduced glycosylation of α-DG. The genes mutated in secondary dystroglycanopathies are involved in the synthesis of O-mannosyl glycans and in the O-mannosylation pathway of α-DG. Mutations in the DG gene (DAG1), causing primary dystroglycanopathies, destabilize the α-DG core protein influencing its binding to modifying enzymes...
November 13, 2017: Human Mutation
https://www.readbyqxmd.com/read/29120745/nrp2-and-cd63-are-host-factors-for-lujo-virus-cell-entry
#5
Matthijs Raaben, Lucas T Jae, Andrew S Herbert, Ana I Kuehne, Sarah H Stubbs, Yi-Ying Chou, Vincent A Blomen, Tomas Kirchhausen, John M Dye, Thijn R Brummelkamp, Sean P Whelan
Arenaviruses cause fatal hemorrhagic disease in humans. Old World arenavirus glycoproteins (GPs) mainly engage α-dystroglycan as a cell-surface receptor, while New World arenaviruses hijack transferrin receptor. However, the Lujo virus (LUJV) GP does not cluster with New or Old World arenaviruses. Using a recombinant vesicular stomatitis virus containing LUJV GP as its sole attachment and fusion protein (VSV-LUJV), we demonstrate that infection is independent of known arenavirus receptor genes. A genome-wide haploid genetic screen identified the transmembrane protein neuropilin 2 (NRP2) and tetraspanin CD63 as factors for LUJV GP-mediated infection...
November 8, 2017: Cell Host & Microbe
https://www.readbyqxmd.com/read/29081423/muscular-dystrophy-with-ribitol-phosphate-deficiency-a-novel-post-translational-mechanism-in-dystroglycanopathy
#6
Motoi Kanagawa, Tatsushi Toda
Muscular dystrophy is a group of genetic disorders characterized by progressive muscle weakness. In the early 2000s, a new classification of muscular dystrophy, dystroglycanopathy, was established. Dystroglycanopathy often associates with abnormalities in the central nervous system. Currently, at least eighteen genes have been identified that are responsible for dystroglycanopathy, and despite its genetic heterogeneity, its common biochemical feature is abnormal glycosylation of alpha-dystroglycan. Abnormal glycosylation of alpha-dystroglycan reduces its binding activities to ligand proteins, including laminins...
October 24, 2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/29044418/friedreich-ataxia-developmental-failure-of-the-dorsal-root-entry-zone
#7
Arnulf H Koeppen, Alyssa B Becker, Jiang Qian, Benjamin B Gelman, Joseph E Mazurkiewicz
Dorsal root ganglia, dorsal roots (DR), and dorsal root entry zones (DREZ) are vulnerable to frataxin deficiency in Friedreich ataxia (FA). A previously unrecognized abnormality is the intrusion of astroglial tissue into DR. Segments of formalin-fixed upper lumbar spinal cord of 13 homozygous and 2 compound heterozygous FA patients were sectioned longitudinally to represent DREZ and stained for glial fibrillary acidic protein (GFAP), S100, vimentin, the central nervous system (CNS)-specific myelin protein proteolipid protein, the peripheral nervous system (PNS) myelin proteins PMP-22 and P0, and the Schwann cell proteins laminin, alpha-dystroglycan, and periaxin...
November 1, 2017: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/29044412/correlation-between-extravasation-and-alterations-of-cerebrovascular-laminin-and-%C3%AE-dystroglycan-immunoreactivity-following-cryogenic-lesions-in-rats
#8
Mihály Kálmán, László Tóth, Dávid Szöllosi, Erzsébet Oszwald, Judit Mahalek, Sam Sadeghian
The blood-brain barrier becomes "leaky" following lesions. Former studies revealed that following lesions the immunoreactivity of cerebrovascular laminin becomes detectable whereas that of β-dystroglycan disappears. These alterations may be indicators of glio-vascular decoupling that may result in the impairment of the blood-brain-barrier. This study investigates correlation between the post-lesion extravasation and the above-mentioned immunohistochemical alterations. Following cryogenic lesions, the survival periods lasted 5, 10, 30 minutes, 1 or 12 hours, or 1 day...
November 1, 2017: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/29036200/the-effect-of-the-pathological-v72i-d109n-and-t190m-missense-mutations-on-the-molecular-structure-of-%C3%AE-dystroglycan
#9
Sonia Covaceuszach, Manuela Bozzi, Maria Giulia Bigotti, Francesca Sciandra, Petr V Konarev, Andrea Brancaccio, Alberto Cassetta
Dystroglycan (DG) is a highly glycosylated protein complex that links the cytoskeleton with the extracellular matrix, mediating fundamental physiological functions such as mechanical stability of tissues, matrix organization and cell polarity. A crucial role in the glycosylation of the DG α subunit is played by its own N-terminal region that is required by the glycosyltransferase LARGE. Alteration in this O-glycosylation deeply impairs the high affinity binding to other extracellular matrix proteins such as laminins...
2017: PloS One
https://www.readbyqxmd.com/read/29034878/generation-of-an-induced-pluripotent-stem-cell-line-cscrmi001-a-from-a-patient-with-a-new-type-of-limb-girdle-muscular-dystrophy-lgmd-due-to-a-missense-mutation-in-poglut1-rumi
#10
Jianbo Wu, Samuel D Hunt, Nadine Matthias, Emilia Servián-Morilla, Jonathan Lo, Hamed Jafar-Nejad, Carmen Paradas, Radbod Darabi
Recently, a new type of limb-girdle muscular dystrophy (LGMD type 2Z) has been identified due to a missense mutation in POGLUT1 (protein O-glucosyltransferase-Rumi), an enzyme capable of adding glucose to a distinct serine residue of epidermal growth factor-like repeats containing a C-X-S-X-(P/A)-C consensus sequence such as Notch receptors. Affected patients demonstrate reduced Notch signaling, decreased muscle stem cell pool and hypoglycosylation of α-dystroglycan, leading to LGMD phenotype. Here we report the generation and characterization of an iPSC line (CSCRMi001-A) from a LGMD-2Z patient with missense mutation in POGLUT1 which can be used for in vitro disease modeling...
October 2017: Stem Cell Research
https://www.readbyqxmd.com/read/29023785/cns-synapses-are-stabilized-trans-synaptically-by-laminins-and-laminin-interacting-proteins
#11
Dale D Hunter, Mary K Manglapus, Galina Bachay, Thomas Claudepierre, Michael W Dolan, Kelly-Ann Gesuelli, William J Brunken
The retina expresses several laminins in the outer plexiform layer (OPL), where they may provide an extracellular scaffold for synapse stabilization. Mice with a targeted deletion of the laminin β2 gene (Lamb2) exhibit retinal disruptions: photoreceptor synapses in the OPL are disorganized and the retinal physiological response is attenuated. We hypothesize that laminins are required for proper trans-synaptic alignment. To test this, we compared the distribution, expression, association and modification of several pre- and post-synaptic elements in wild-type and Lamb2-null retinae...
October 12, 2017: Journal of Comparative Neurology
https://www.readbyqxmd.com/read/28986830/studies-of-lassa-virus-cell-entry
#12
Antonella Pasquato, Antonio Herrador Fernandez, Stefan Kunz
Host cell entry is the first and most fundamental step of every virus infection and represents a major barrier for zoonotic transmission and viral emergence. Targeting viral entry appears further as a promising strategy for therapeutic intervention. Several cellular receptors have been identified for Lassa virus, including dystroglycan, TAM receptor tyrosine kinases, and C-type lectins. Upon receptor binding, LASV enters the host cell via a largely unknown clathrin- and dynamin-independent endocytotic pathway that delivers the virus to late endosomes, where fusion occurs after engagement of a second, intracellular receptor, the late endosomal/lysosomal resident protein LAMP1...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28980742/nintedanib-treatment-delays-prostate-dorsolateral-lobe-cancer-progression-in-the-tramp-model-contribution-to-the-epithelial-stromal-interaction-balance
#13
Ellen Nogueira Pangrazi, Raquel Frenedoso da Silva, Larissa Akemi Kido, Fabio Montico, Valéria Helena Alves Cagnon
Prostate cancer progression mechanism has been linked to epithelial proliferation, tumor invasion ability and growth factors. Nintedanib (BIBF 1120) has been reported as being FGF and VEGF pathway inhibitors, exhibiting antitumor activity. Thus, the objective herein was to characterize the early Nintedanib treatment effects on the structure and molecules involved in the basal membrane, the extracellular matrix maintenance, in addition to the angiogenesis and mitogenic processes at different grades of prostatic tumor development in TRAMP mice...
October 5, 2017: Cell Biology International
https://www.readbyqxmd.com/read/28980384/noncompaction-cardiomyopathy-in-an-infant-with-walker-warburg-syndrome
#14
Sarah Abdullah, Cynthia Hawkins, Gregory Wilson, Grace Yoon, Luc Mertens, Melissa T Carter, Andrea Guerin
Walker-Warburg syndrome (WWS) is a rare autosomal recessive, congenital muscular dystrophy that is associated with brain and eye anomalies. Several genes encoding proteins involved in α-dystroglycan glycosylation have been implicated in the aetiology of WWS. We describe a patient with nonclassical features of WWS presenting with heart failure related to noncompaction cardiomyopathy resulting in death at 4 months of age. Muscle biopsy revealed absent α-dystroglycan on immunostaining and genetic testing confirmed the diagnosis with two previously described POMT2 mutations...
October 5, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28973932/discovery-of-an-o-mannosylation-pathway-selectively-serving-cadherins-and-protocadherins
#15
Ida Signe Bohse Larsen, Yoshiki Narimatsu, Hiren Jitendra Joshi, Lina Siukstaite, Oliver J Harrison, Julia Brasch, Kerry M Goodman, Lars Hansen, Lawrence Shapiro, Barry Honig, Sergey Y Vakhrushev, Henrik Clausen, Adnan Halim
The cadherin (cdh) superfamily of adhesion molecules carry O-linked mannose (O-Man) glycans at highly conserved sites localized to specific β-strands of their extracellular cdh (EC) domains. These O-Man glycans do not appear to be elongated like O-Man glycans found on α-dystroglycan (α-DG), and we recently demonstrated that initiation of cdh/protocadherin (pcdh) O-Man glycosylation is not dependent on the evolutionary conserved POMT1/POMT2 enzymes that initiate O-Man glycosylation on α-DG. Here, we used a CRISPR/Cas9 genetic dissection strategy combined with sensitive and quantitative O-Man glycoproteomics to identify a homologous family of four putative protein O-mannosyltransferases encoded by the TMTC1-4 genes, which were found to be imperative for cdh and pcdh O-Man glycosylation...
October 17, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28931339/limb-girdle-muscular-dystrophy-type-2i-two-chinese-families-and-a-review-in-asian-patients
#16
Dan-Ni Wang, Zhi-Qiang Wang, Yu-Qing Chen, Guo-Rong Xu, Min-Ting Lin, Ning Wang
BACKGROUND: Limb-girdle muscular dystrophy type 2I (LGMD2I) is an autosomal recessive hereditary disorder caused by mutations in the fukutin-related protein (FKRP) gene. Although the features of the disorder in European patients have been summarized, Asian patients with LGMD2I have rarely been reported. Thus, the clinical differences in LGMD2I between Asian and European patients and the associated genetic changes remain unclear. METHODS: We reported detailed clinical data as well as results from muscle biopsy, muscle MRI and genetic analysis of the FKRP gene in two unrelated Chinese families with LGMD2I...
October 2, 2017: International Journal of Neuroscience
https://www.readbyqxmd.com/read/28890736/the-psychoactive-drug-25b-nbome-recapitulates-rhabdomyolysis-in-zebrafish-larvae
#17
Genri Kawahara, Hideyuki Maeda, Ruri Kikura-Hanajiri, Ken-Ichi Yoshida, Yukiko K Hayashi
N-Benzyl-substituted 2C class phenethylamines (NBOMes) are psychoactive designer drugs, with strong hallucinogenic and stimulant effects, even at low doses. The designer drug, 2-(4-bromo-2, 5-dimethoxyphenyl)-N-(2-methoxybenzyl) ethanamine (25B-NBOMe) is considered to be one of the most potent agonists of the serotonin-2A (5-HT2A) receptor. Recently, we reported the first lethal case of 25B-NBOMe intoxication with severe rhabdomyolysis, concluded by clinical, pathological and toxicological analyses. There are currently no good animal models that closely recapitulate serotonin receptor-dependent rhabdomyolysis...
2017: Forensic Toxicology
https://www.readbyqxmd.com/read/28860175/skeletal-muscle-contractile-properties-in-a-novel-murine-model-for-limb-girdle-muscular-dystrophy-2i
#18
Jordan D Rehwaldt, Buel D Rodgers, David C Lin
Limb-girdle muscular dystrophy (LGMD) 2i results from mutations in fukutin-related protein and aberrant α-dystroglycan glycosylation. Although this significantly compromises muscle function and ambulation, the comprehensive characteristics of contractile dysfunction are unknown. We therefore quantified the in situ contractile properties of the medial gastrocnemius in young adult P448L mice, an affected muscle and novel model of LGMD2i, respectively. Maximal twitch force, tetanic force and power normalized to physiological cross-sectional area were significantly smaller in P448L mice, compared to sex-matched wild-type mice...
August 31, 2017: Journal of Applied Physiology
https://www.readbyqxmd.com/read/28852008/retrograde-trafficking-of-%C3%AE-dystroglycan-from-the-plasma-membrane-to-the-nucleus
#19
Viridiana Gracida-Jiménez, Ricardo Mondragón-González, Griselda Vélez-Aguilera, Alejandra Vásquez-Limeta, Marco S Laredo-Cisneros, Juan de Dios Gómez-López, Luis Vaca, Sarah C Gourlay, Laura A Jacobs, Steve J Winder, Bulmaro Cisneros
β-Dystroglycan (β-DG) is a transmembrane protein with critical roles in cell adhesion, cytoskeleton remodeling and nuclear architecture. This functional diversity is attributed to the ability of β-DG to target to, and conform specific protein assemblies at the plasma membrane (PM) and nuclear envelope (NE). Although a classical NLS and importin α/β mediated nuclear import pathway has already been described for β-DG, the intracellular trafficking route by which β-DG reaches the nucleus is unknown. In this study, we demonstrated that β-DG undergoes retrograde intracellular trafficking from the PM to the nucleus via the endosome-ER network...
August 29, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28821434/cleavage-of-%C3%AE-dystroglycan-occurs-in-sarcoglycan-deficient-skeletal-muscle-without-mmp-2-and-mmp-9
#20
Yuta Fukai, Yutaka Ohsawa, Hideaki Ohtsubo, Shin-Ichiro Nishimatsu, Hiroki Hagiwara, Makoto Noda, Toshikuni Sasaoka, Tatsufumi Murakami, Yoshihide Sunada
BACKGROUND: The dystroglycan complex consists of two subunits: extracellular α-dystroglycan and membrane-spanning β-dystroglycan, which provide a tight link between the extracellular matrix and the intracellular cytoskeleton. Previous studies showed that 43 kDa β-dystroglycan is proteolytically cleaved into the 30 kDa fragment by matrix metalloproteinases (MMPs) in various non-muscle tissues, whereas it is protected from cleavage in muscles by the sarcoglycan complex which resides close to the dystroglycan complex...
October 14, 2017: Biochemical and Biophysical Research Communications
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