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Dystroglycan

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https://www.readbyqxmd.com/read/28931339/limb-girdle-muscular-dystrophy-type-2i-two-chinese-families-and-a-review-in-asian-patients
#1
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...
September 21, 2017: International Journal of Neuroscience
https://www.readbyqxmd.com/read/28890736/the-psychoactive-drug-25b-nbome-recapitulates-rhabdomyolysis-in-zebrafish-larvae
#2
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
#3
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
#4
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
#5
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
https://www.readbyqxmd.com/read/28810660/recent-advancements-in-understanding-mammalian-o-mannosylation
#6
M Osman Sheikh, Stephanie M Halmo, Lance Wells
The post-translational glycosylation of select proteins by O-linked mannose (O-mannose or O-man) is a conserved modification from yeast to humans and has been shown to be necessary for proper development and growth. The most well studied O-mannosylated mammalian protein is α-dystroglycan (α-DG). Hypoglycosylation of α-DG results in varying severities of congenital muscular dystrophies, cancer progression and metastasis, and inhibited entry and infection of certain arenaviruses. Defects in the gene products responsible for post-translational modification of α-DG, primarily glycosyltransferases, are the basis for these diseases...
September 1, 2017: Glycobiology
https://www.readbyqxmd.com/read/28806929/myelination-is-delayed-during-postnatal-brain-development-in-the-mdx-mouse-model-of-duchenne-muscular-dystrophy
#7
Azeez Aranmolate, Nathaniel Tse, Holly Colognato
BACKGROUND: In Duchenne muscular dystrophy (DMD), the loss of the dystrophin component of the dystrophin-glycoprotein complex (DGC) compromises plasma membrane integrity in skeletal muscle, resulting in extensive muscle degeneration. In addition, many DMD patients exhibit brain deficits in which the cellular etiology remains poorly understood. We recently found that dystroglycan, a receptor component of the DGC that binds intracellularly to dystrophin, regulates the development of oligodendrocytes, the myelinating glial cells of the brain...
August 14, 2017: BMC Neuroscience
https://www.readbyqxmd.com/read/28803818/a-homozygous-dpm3-mutation-in-a-patient-with-alpha-dystroglycan-related-limb-girdle-muscular-dystrophy
#8
P Y K Van den Bergh, Y Sznajer, V Van Parys, W van Tol, R A Wevers, D J Lefeber, L Xu, M Lek, D G MacArthur, K Johnson, L Phillips, A Töpf, V Straub
Defects of O-linked glycosylation of alpha-dystroglycan cause a wide spectrum of muscular dystrophies ranging from severe congenital muscular dystrophy associated with abnormal brain and eye development to mild limb girdle muscular dystrophy. We report a female patient who developed isolated pelvic girdle muscle weakness and wasting, which became symptomatic at age 42. Exome sequencing uncovered a homozygous c.131T > G (p.Leu44Pro) substitution in DPM3, encoding dolichol-P-mannose (DPM) synthase subunit 3, leading to a 50% reduction of enzymatic activity...
July 17, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28781947/structural-flexibility-of-human-%C3%AE-dystroglycan
#9
Sonia Covaceuszach, Manuela Bozzi, Maria Giulia Bigotti, Francesca Sciandra, Petr Valeryevich Konarev, Andrea Brancaccio, Alberto Cassetta
Dystroglycan (DG), composed of α and β subunits, belongs to the dystrophin-associated glycoprotein complex. α-DG is an extracellular matrix protein that undergoes a complex post-translational glycosylation process. The bifunctional glycosyltransferase like-acetylglucosaminyltransferase (LARGE) plays a crucial role in the maturation of α-DG, enabling its binding to laminin. We have already structurally analyzed the N-terminal region of murine α-DG (α-DG-Nt) and of a pathological single point mutant that may affect recognition of LARGE, although the structural features of the potential interaction between LARGE and DG remain elusive...
August 2017: FEBS Open Bio
https://www.readbyqxmd.com/read/28765879/mass-spectrometric-identification-of-dystrophin-the-protein-product-of-the-duchenne-muscular-dystrophy%C3%A2-gene-in-distinct-muscle-surface-membranes
#10
Sandra Murphy, Kay Ohlendieck
Supramolecular membrane complexes of low abundance are difficult to study by routine bioanalytical techniques. The plasmalemmal complex consisting of sarcoglycans, dystroglycans, dystrobrevins and syntrophins, which is closely associated with the membrane cytoskeletal protein dystrophin, represents such a high‑molecular‑mass protein assembly in skeletal muscles. The almost complete loss of the dystrophin isoform Dp427‑M and concomitant reduction in the dystrophin‑associated glycoprotein complex is the underlying cause of the highly progressive neuromuscular disorder named Duchenne muscular dystrophy...
July 27, 2017: International Journal of Molecular Medicine
https://www.readbyqxmd.com/read/28760865/dystroglycan-maintains-inner-limiting-membrane-integrity-to-coordinate-retinal-development
#11
Reena Clements, Rolf Turk, Kevin P Campbell, Kevin M Wright
Proper neural circuit formation requires the precise regulation of neuronal migration, axon guidance, and dendritic arborization. Mutations affecting the function of the transmembrane glycoprotein dystroglycan cause a form of congenital muscular dystrophy that is frequently associated with neurodevelopmental abnormalities. Despite its importance in brain development, the role of dystroglycan in regulating retinal development remains poorly understood. Using a mouse model of dystroglycanopathy (ISPD(L79*) ) and conditional dystroglycan mutants of both sexes, we show that dystroglycan is critical for the proper migration, axon guidance, and dendritic stratification of neurons in the inner retina...
August 30, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28744553/brag2a-a-guanine-nucleotide-exchange-factor-for-arf6-is-a-component-of-the-dystrophin-associated-glycoprotein-complex-at-the-photoreceptor-terminal
#12
Hiroyuki Sakagami, Osamu Katsumata, Yoshinobu Hara, Toshikuni Sasaoka, Masahiro Fukaya
Purpose: Mutations in genes encoding the dystrophin-associated glycoprotein complex (DGC) can cause muscular dystrophy and disturb synaptic transmission in the photoreceptor ribbon synapse. However, the molecular composition and specific functions of the photoreceptor DGC remain unknown. Brefeldin A-resistant Arf-GEF 2 (BRAG2), also known as IQSEC1, is a guanine nucleotide exchange factor for ADP-ribosylation factor 6 (Arf6), a critical GTPase that regulates endosomal trafficking and actin cytoskeleton remodeling...
July 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28711406/glycosylation-with-ribitol-phosphate-in-mammals-new-insights-into-the-o-mannosyl-glycan
#13
REVIEW
Hiroshi Manya, Tamao Endo
BACKGROUND: O-mannosyl glycans have been found in a limited number of glycoproteins of the brain, nerves, and skeletal muscles, particularly in α-dystroglycan (α-DG). Defects in O-mannosyl glycan on α-DG are the primary cause of a group of congenital muscular dystrophies, which are collectively termed α-dystroglycanopathy. Recent studies have revealed various O-mannosyl glycan structures, which can be classified as core M1, core M2, and core M3 glycans. Although many dystroglycanopathy genes are involved in core M3 processing, the structure and biosynthesis of core M3 glycan remains only partially understood...
October 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28687598/whoa-man-unexpected-protein-o-mannosylation-pathways-in-mammals
#14
REVIEW
M Osman Sheikh, Lance Wells
The recent expansion of well-characterized O-mannosylated mammalian proteins beyond the archetypical example of α-dystroglycan has inspired new interest in the possibility of additional functional roles of this modification. In an effort to explore those roles, a new study now serendipitously uncovers the existence of an alternative pathway to the well-described POMT (protein O-mannosyltransferase) family of O-mannosyltransferases.
July 7, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28680109/deep-intronic-variant-of-fukutin-is-the-most-prevalent-point-mutation-of-fukuyama-congenital-muscular-dystrophy-in-japan
#15
Kazuhiro Kobayashi, Reiko Kato, Eri Kondo-Iida, Mariko Taniguchi-Ikeda, Makiko Osawa, Kayoko Saito, Tatsushi Toda
Fukuyama congenital muscular dystrophy (FCMD), which is caused by mutations in the fukutin gene, is the second most common form of childhood muscular dystrophy in Japan. The founder haplotype is the most prevalent in the chromosomes of Japanese FCMD patients, and corresponds to an SVA retrotransposal insertion in the 3'-untranslated region of fukutin. Although other mutations have been reported, the mutation corresponding to the second most prevalent haplotype in Japanese FCMD patients remained unknown. Recently a deep-intronic point mutation c...
July 6, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28679759/mutational-analysis-of-lassa-virus-glycoprotein-highlights-regions-required-for-alpha-dystroglycan-utilization
#16
Marissa Acciani, Jacob T Alston, Guohui Zhao, Hayley Reynolds, Afroze M Ali, Brian Xu, Melinda A Brindley
Lassa virus (LASV) is an enveloped RNA virus endemic to West Africa and responsible for severe cases of hemorrhagic fever. Virus entry is mediated by the glycoprotein complex consisting of a stable-signal peptide, a receptor-binding subunit, GP1, and a viral-host membrane fusion subunit, GP2. Several cellular receptors can interact with the GP1 subunit and mediate viral entry, including alpha-dystroglycan (αDG) and lysosome-associated membrane protein 1 (LAMP1). In order to define the regions within GP1 that interact with the cellular receptors, we implemented insertional mutagenesis, carbohydrate shielding, and alanine scanning mutagenesis...
September 15, 2017: Journal of Virology
https://www.readbyqxmd.com/read/28659438/linker-proteins-restore-basement-membrane-and-correct-lama2-related-muscular-dystrophy-in-mice
#17
Judith R Reinhard, Shuo Lin, Karen K McKee, Sarina Meinen, Stephanie C Crosson, Maurizio Sury, Samantha Hobbs, Geraldine Maier, Peter D Yurchenco, Markus A Rüegg
LAMA2-related muscular dystrophy (LAMA2 MD or MDC1A) is the most frequent form of early-onset, fatal congenital muscular dystrophies. It is caused by mutations in LAMA2, the gene encoding laminin-α2, the long arm of the heterotrimeric (α2, β1, and γ1) basement membrane protein laminin-211 (Lm-211). We establish that despite compensatory expression of laminin-α4, giving rise to Lm-411 (α4, β1, and γ1), muscle basement membrane is labile in LAMA2 MD biopsies. Consistent with this deficit, recombinant Lm-411 polymerized and bound to cultured myotubes only weakly...
June 28, 2017: Science Translational Medicine
https://www.readbyqxmd.com/read/28643105/differential-role-of-gabaa-receptors-and-neuroligin-2-for-perisomatic-gabaergic-synapse-formation-in-the-hippocampus
#18
Patrizia Panzanelli, Simon Früh, Jean-Marc Fritschy
Perisomatic GABAergic synapses onto hippocampal pyramidal cells arise from two populations of basket cells with different neurochemical and functional properties. The presence of the dystrophin-glycoprotein complex in their postsynaptic density (PSD) distinguishes perisomatic synapses from GABAergic synapses on dendrites and the axon-initial segment. Targeted deletion of neuroligin 2 (NL2), a transmembrane protein interacting with presynaptic neurexin, has been reported to disrupt postsynaptic clustering of GABAA receptors (GABAAR) and their anchoring protein, gephyrin, at perisomatic synapses...
June 22, 2017: Brain Structure & Function
https://www.readbyqxmd.com/read/28629604/novel-fkrp-mutations-in-a-japanese-mdc1c-sibship-clinically-diagnosed-with-fukuyama-congenital-muscular-dystrophy
#19
Mieko Yoshioka, Kazuhiro Kobayashi, Tatsushi Toda
INTRODUCTION: Fukuyama congenital muscular dystrophy (FCMD), caused by fukutin mutations, is the most common form of Japanese CMD. We followed a Japanese CMD sibship without fukutin mutation, and herein identified new FKRP mutations causing MDC1C rarely reported in Oriental countries. PATIENTS: Two affected siblings, individuals 1 (I-1, male) and 2 (I-2, female), were born uneventfully to unaffected, non-consanguineous parents. Severe hypotonia was soon apparent and serum CK levels were elevated: I-1: 1025 IU/L (normal range <130 IU/L) and I-2: 5350 IU/L...
June 16, 2017: Brain & Development
https://www.readbyqxmd.com/read/28591567/a-role-for-dystroglycan-in-the-pathophysiology-of-acute-leukemic-cells
#20
Lea Alonso-Rangel, Tizziani Benítez-Guerrero, Ivette Martínez-Vieyra, Bulmaro Cisneros, Adolfo Martínez-Tovar, Steve J Winder, Doris Cerecedo
AIMS: Previous reports have demonstrated that alterations or reduced expression of Dystroglycan (Dg) complex (αDg and βDg subunits) are related to progression and severity of neoplastic solid tissues. Therefore we determined the expression pattern and subcellular distribution of Dg complex in Acute Myeloid Leukemia (AML) primary blasts (M1, M2, and M3 phenotypes), as well as HL-60 and Kasumi-1 leukemia cell lines. Additionally, we evaluated the relative expression of the main enzymes controlling α-Dg glycosylation to ascertain the post-translational modifications in the leukemia cell phenotype...
August 1, 2017: Life Sciences
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