keyword
MENU ▼
Read by QxMD icon Read
search

Dystroglycan

keyword
https://www.readbyqxmd.com/read/29759639/uniparental-disomy-unveils-a-novel-recessive-mutation-in-pomt2
#1
Brianna N Brun, Tobias Willer, Benjamin W Darbro, Hernan D Gonorazky, Sergey Naumenko, James J Dowling, Kevin P Campbell, Steven A Moore, Katherine D Mathews
Mutations in POMT2 are most commonly associated with Walker-Warburg syndrome and Muscle-Eye-Brain disease, but can also cause limb girdle muscular dystrophy (LGMD2N). We report a case of LGMD due to a novel mutation in POMT2 unmasked by uniparental isodisomy. The patient experienced proximal muscle weakness from three years of age with minimal progression. She developed progressive contractures and underwent unilateral Achilles tenotomy. By age 11, she had borderline low left ventricular ejection fraction and mild restrictive lung disease...
April 10, 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29735719/reduction-of-cellular-nucleic-acid-binding-protein-encoded-by-a-myotonic-dystrophy-type-2-gene-causes-muscle-atrophy
#2
Christina Wei, Lauren Stock, Christiane Schneider-Gold, Claudia Sommer, Nikolai A Timchenko, Lubov Timchenko
Myotonic Dystrophy type 2 (DM2) is a neuromuscular disease caused by an expansion of intronic CCTG repeats in the CNBP gene which encodes a protein regulating translation and transcription. To better understand the role of CNBP in DM2 pathology, we examined skeletal muscle in a new model of Cnbp knock out (KO) mice. This study showed that a loss of Cnbp disturbs myofibrillar sarcomeric organization at birth. Surviving homozygous Cnbp KO mice develop muscle atrophy at young age. Skeletal muscle phenotype in heterozygous Cnbp KO mice was milder, but they develop severe muscle wasting at advanced age...
May 7, 2018: Molecular and Cellular Biology
https://www.readbyqxmd.com/read/29726007/alterations-in-the-muscle-force-transfer-apparatus-in-aged-rats-during-unloading-and-reloading-impact-of-microrna-31
#3
David C Hughes, George R Marcotte, Leslie M Baehr, Daniel W D West, Andrea G Marshall, Scott M Ebert, Arik Davidyan, Christopher M Adams, Sue C Bodine, Keith Baar
KEY POINTS: Force transfer is integral for maintaining skeletal muscle structure and function. One important component is dystrophin. There is limited understanding of how force transfer is impacted by age and loading. Here, we investigate the force transfer apparatus in muscles of adult and old rats exposed to periods of disuse and reloading. Our results demonstrate an increase in dystrophin protein during the reloading phase in the adult TA muscle that is delayed in old. The consequence of this delay is an increased susceptibility towards contraction-induced muscle injury...
May 3, 2018: Journal of Physiology
https://www.readbyqxmd.com/read/29623298/a-murine-model-of-charcot-marie-tooth-disease-4f-reveals-a-role-for-the-c-terminus-of-periaxin-in-the-formation-and-stabilization-of-cajal-bands
#4
Diane L Sherman, Peter J Brophy
Charcot-Marie-Tooth (CMT) disease comprises up to 80 monogenic inherited neuropathies of the peripheral nervous system (PNS) that collectively result in demyelination and axon degeneration. The majority of CMT disease is primarily either dysmyelinating or demyelinating in which mutations affect the ability of Schwann cells to either assemble or stabilize peripheral nerve myelin. CMT4F is a recessive demyelinating form of the disease caused by mutations in the Periaxin ( PRX ) gene . Periaxin (Prx) interacts with Dystrophin Related Protein 2 (Drp2) in an adhesion complex with the laminin receptor Dystroglycan (Dag)...
2018: Wellcome Open Research
https://www.readbyqxmd.com/read/29615556/ethanol-exposure-causes-muscle-degeneration-in-zebrafish
#5
Elizabeth C Coffey, Maggie E Pasquarella, Michelle F Goody, Clarissa A Henry
Alcoholic myopathies are characterized by neuromusculoskeletal symptoms such as compromised movement and weakness. Although these symptoms have been attributed to neurological damage, EtOH may also target skeletal muscle. EtOH exposure during zebrafish primary muscle development or adulthood results in smaller muscle fibers. However, the effects of EtOH exposure on skeletal muscle during the growth period that follows primary muscle development are not well understood. We determined the effects of EtOH exposure on muscle during this phase of development...
March 9, 2018: Journal of Developmental Biology
https://www.readbyqxmd.com/read/29596841/mir-206-is-required-for-changes-in-cell-adhesion-that-drive-muscle-cell-morphogenesis-in-xenopus-laevis
#6
Hernando Martínez Vergara, Julio Ramirez, Trista Rosing, Ceazar Nave, Rebecca Blandino, Daniel Saw, Parag Saraf, Gabriel Piexoto, Coohleen Coombes, Melissa Adams, Carmen R Domingo
MicroRNAs (miRNAs) are highly conserved small non-coding RNA molecules that post-transcriptionally regulate gene expression in multicellular organisms. Within the set of muscle-specific miRNAs, miR-206 expression is largely restricted to skeletal muscle and is found exclusively within the bony fish lineage. Although many studies have implicated miR-206 in muscle maintenance and disease, its role in skeletal muscle development remains largely unknown. Here, we examine the role of miR-206 during Xenopus laevis somitogenesis...
March 26, 2018: Developmental Biology
https://www.readbyqxmd.com/read/29582400/enhancing-endogenous-nitric-oxide-by-whole-body-periodic-acceleration-elicits-neuroprotective-effects-in-dystrophic-neurons
#7
Jose R Lopez, A Uryash, J Kolster, E Estève, R Zhang, J A Adams
We have previously shown that inadequate dystrophin in cortical neurons in mdx mice is associated with age-dependent dyshomeostasis of resting intracellular Ca2+ ([Ca2+ ]i ) and Na+ ([Na+ ]i ), elevated reactive oxygen species (ROS) production, increase in neuronal damage and cognitive deficit. In this study, we assessed the potential therapeutic properties of the whole body periodic acceleration (pGz) to ameliorate the pathology observed in cortical neurons from the mdx mouse. pGz adds small pulses to the circulation, thereby increasing pulsatile shear stress to the vascular endothelium, which in turn increases production of nitric oxide (NO)...
March 26, 2018: Molecular Neurobiology
https://www.readbyqxmd.com/read/29508280/the-dynamics-of-impaired-blood-brain-barrier-restoration-in-a-rat-model-of-co-morbid-injury
#8
Zareen Amtul, Jun Yang, Simona Nikolova, Ting-Yim Lee, Robert Bartha, David F Cechetto
Defect in brain microperfusion is increasingly recognized as an antecedent event to Alzheimer's disease (AD) and ischemia. Nevertheless, studies on the role of impaired microperfusion as a pathological trigger to neuroinflammation, Aβ deposition as well as blood-brain barrier (BBB) disruption, and the etiological link between AD and ischemia are lacking. In this study, we employ in vivo sequential magnetic resonance imaging (MRI) and computed tomography (CT) imaging in a co-morbid rat model of β-amyloid toxicity (Aβ) and ischemia (ET1) with subsequent histopathology of striatal lesion core and penumbra at 1, 7, and 28 days post injury...
March 5, 2018: Molecular Neurobiology
https://www.readbyqxmd.com/read/29477842/cell-endogenous-activities-of-fukutin-and-fkrp-coexist-with-the-ribitol-xylosyltransferase-tmem5
#9
Ryuta Nishihara, Kazuhiro Kobayashi, Rieko Imae, Hiroki Tsumoto, Hiroshi Manya, Mamoru Mizuno, Motoi Kanagawa, Tamao Endo, Tatsushi Toda
Dystroglycanopathies are a group of muscular dystrophies that are caused by abnormal glycosylation of dystroglycan; currently 18 causative genes are known. Functions of the dystroglycanopathy genes fukutin, fukutin-related protein (FKRP), and transmembrane protein 5 (TMEM5) were most recently identified; fukutin and FKRP are ribitol-phosphate transferases and TMEM5 is a ribitol xylosyltransferase. In this study, we show that fukutin, FKRP, and TMEM5 form a complex while maintaining each of their enzyme activities...
March 18, 2018: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29474462/advanced-glycation-end-age-product-modification-of-laminin-downregulates-kir4-1-in-retinal-m%C3%A3-ller-cells
#10
Kayla Thompson, Jonathan Chen, Qianyi Luo, Yucheng Xiao, Theodore R Cummins, Ashay D Bhatwadekar
Diabetic retinopathy (DR) is a major cause of adult blindness. Retinal Müller cells maintain water homeostasis and potassium concentration via inwardly rectifying Kir4.1 channels. Accumulation of advanced glycation end products (AGEs) is a major pathologic event in DR. While diabetes leads to a decrease in the Kir4.1 channels, it remains unknown whether AGEs-linked to the basement membrane (BM) affect normal Kir4.1 channels. For this study, we hypothesized that AGE-modification of laminin is detrimental to Kir4...
2018: PloS One
https://www.readbyqxmd.com/read/29447293/the-enzymatic-processing-of-%C3%AE-dystroglycan-by-mmp-2-is-controlled-by-two-anchoring-sites-distinct-from-the-active-site
#11
Magda Gioia, Giovanni Francesco Fasciglione, Diego Sbardella, Francesca Sciandra, MariaLuisa Casella, Serena Camerini, Marco Crescenzi, Alessandro Gori, Umberto Tarantino, Paola Cozza, Andrea Brancaccio, Massimo Coletta, Manuela Bozzi
Dystroglycan (DG) is a membrane receptor, belonging to the dystrophin-glycoprotein complex (DGC) and formed by two subunits, α-dystroglycan (α-DG) and β-dystroglycan (β -DG). The C-terminal domain of α-DG and the N-terminal extracellular domain of β -DG are connected, providing a link between the extracellular matrix and the cytosol. Under pathological conditions, such as cancer and muscular dystrophies, DG may be the target of metalloproteinases MMP-2 and MMP-9, contributing to disease progression. Previously, we reported that the C-terminal domain α-DG (483-628) domain is particularly susceptible to the catalytic activity of MMP-2; here we show that the α-DG 621-628 region is required to carry out its complete digestion, suggesting that this portion may represent a MMP-2 anchoring site...
2018: PloS One
https://www.readbyqxmd.com/read/29416295/expression-in-retinal-neurons-of-fukutin-and-fkrp-the-protein-products-of-two-dystroglycanopathy-causative-genes
#12
Carmen Haro, Mary Luz Uribe, Cristina Quereda, Jesús Cruces, José Martín-Nieto
Purpose: Dystroglycanopathies are a heterogeneous group of recessive neuromuscular dystrophies that affect the muscle, brain and retina, and are caused by deficiencies in the O-glycosylation of α-dystroglycan. This post-translational modification is essential for the formation and maintenance of ribbon synapses in the retina. Fukutin and fukutin-related protein (FKRP) are two glycosyltransferases whose deficiency is associated with severe dystroglycanopathies. These enzymes carry out in vitro the addition of a tandem ribitol 5-phosphate moiety to the so-called core M3 phosphotrisaccharide of α-dystroglycan...
2018: Molecular Vision
https://www.readbyqxmd.com/read/29394359/ribitol-phosphate-a-newly-identified-posttranslational-glycosylation-unit-in-mammals-structure-modification-enzymes-and-relationship-to-human-diseases
#13
https://www.readbyqxmd.com/read/29380551/targeted-deletion-of-ric8a-in-mouse-neural-precursor-cells-interferes-with-the-development-of-the-brain-eyes-and-muscles
#14
Keiu Kask, Laura Tikker, Katrin Ruisu, Sirje Lulla, Eva-Maria Oja, Riho Meier, Raivo Raid, Teet Velling, Tambet Tõnissoo, Margus Pooga
Autosomal recessive disorders such as Fukuyama congenital muscular dystrophy, Walker-Warburg syndrome, and the muscle-eye-brain disease are characterized by defects in the development of patient's brain, eyes, and skeletal muscles. These syndromes are accompanied by brain malformations like type II lissencephaly in the cerebral cortex with characteristic overmigrations of neurons through the breaches of the pial basement membrane. The signaling pathways activated by laminin receptors, dystroglycan and integrins, control the integrity of the basement membrane, and their malfunctioning may underlie the pathologies found in the rise of defects reminiscent of these syndromes...
April 2018: Developmental Neurobiology
https://www.readbyqxmd.com/read/29361213/matrix-metalloproteinase-9-displays-a-particular-time-response-to-acute-stress-variation-in-its-levels-and-activity-distribution-in-rat-hippocampus
#15
Felipe I Aguayo, Aníbal A Pacheco, Gonzalo J García-Rojo, Javier A Pizarro-Bauerle, Ana V Doberti, Macarena Tejos, María A García-Pérez, Paulina S Rojas, Jenny L Fiedler
A single stress exposure facilitates memory formation through neuroplastic processes that reshape excitatory synapses in the hippocampus, probably requiring changes in extracellular matrix components. We tested the hypothesis that matrix metalloproteinase 9 (MMP-9), an enzyme that degrades components of extracellular matrix and synaptic proteins such as β-dystroglycan (β-DG43 ), changes their activity and distribution in rat hippocampus during the acute stress response. After 2.5 h of restraint stress, we found (i) increased MMP-9 levels and potential activity in whole hippocampal extracts, accompanied by β-DG43 cleavage, and (ii) a significant enhancement of MMP-9 immunoreactivity in dendritic fields such as stratum radiatum and the molecular layer of hippocampus...
February 7, 2018: ACS Chemical Neuroscience
https://www.readbyqxmd.com/read/29360985/temporal-requirement-of-dystroglycan-glycosylation-during-brain-development-and-rescue-of-severe-cortical-dysplasia-via-gene-delivery-in-the-fetal-stage
#16
Atsushi Sudo, Motoi Kanagawa, Mai Kondo, Chiyomi Ito, Kazuhiro Kobayashi, Mitsuharu Endo, Yasuhiro Minami, Atsu Aiba, Tatsushi Toda
Congenital muscular dystrophies (CMDs) are characterized by progressive weakness and degeneration of skeletal muscle. In several forms of CMD, abnormal glycosylation of α-dystroglycan (α-DG) results in conditions collectively known as dystroglycanopathies, which are associated with central nervous system involvement. We recently demonstrated that fukutin, the gene responsible for Fukuyama congenital muscular dystrophy, encodes the ribitol-phosphate transferase essential for dystroglycan function. Brain pathology in patients with dystroglycanopathy typically includes cobblestone lissencephaly, mental retardation, and refractory epilepsy; however, some patients exhibit average intelligence, with few or almost no structural defects...
April 1, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29337005/walker-warburg-syndrome-and-tectocerebellar-dysraphia-a-novel-association-caused-by-a-homozygous-dag1-mutation
#17
Zvi Leibovitz, Hanna Mandel, Tzipora C Falik-Zaccai, Shani Ben Harouch, David Savitzki, Karina Krajden-Haratz, Liat Gindes, Mordechai Tamarkin, Dorit Lev, William B Dobyns, Tally Lerman-Sagie
OBJECTIVES: To elaborate the imaging phenotype associated with a homozygous c.743C > del frameshift mutation in DAG1 leading to complete absence of both α- and β-dystroglycan previously reported in a consanguineous Israeli-Arab family. METHODS: We analyzed prenatal and postnatal imaging data of patients from a consanguineous Israeli-Arab kindred harboring the DAG1 mutation. RESULTS: The imaging studies (fetal ultrasound, CT scan and postnatal MRI) demonstrated: flat cortex (abnormally thick with irregular pebbled cortical-white matter border on MRI), hydrocephalus, scattered small periventricular heterotopia and subependymal hemorrhages and calcifications, z-shaped brainstem, and in addition an occipital encephalocele, vermian agenesis, and an elongated and thick tectum (tectocerebellar dysraphia)...
May 2018: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29320543/distinct-expression-of-functionally-glycosylated-alpha-dystroglycan-in-muscle-and-non-muscle-tissues-of-fkrp-mutant-mice
#18
COMPARATIVE STUDY
Anthony Blaeser, Hiroyuki Awano, Pei Lu, Qi-Long Lu
The glycosylation of alpha-dystroglycan (α-DG) is crucial in maintaining muscle cell membrane integrity. Dystroglycanopathies are identified by the loss of this glycosylation leading to a breakdown of muscle cell membrane integrity and eventual degeneration. However, a small portion of fibers expressing functionally glycosylated α-DG (F-α-DG) (revertant fibers, RF) have been identified. These fibers are generally small in size, centrally nucleated and linked to regenerating fibers. Examination of different muscles have shown various levels of RFs but it is unclear the extent of which they are present...
2018: PloS One
https://www.readbyqxmd.com/read/29295909/lamp1-increases-the-efficiency-of-lassa-virus-infection-by-promoting-fusion-in-less-acidic-endosomal-compartments
#19
Christine E Hulseberg, Lucie Fénéant, Katarzyna M Szymańska, Judith M White
Lassa virus (LASV) is an arenavirus whose entry into host cells is mediated by a glycoprotein complex (GPC) comprised of a receptor binding subunit, GP1, a fusogenic transmembrane subunit, GP2, and a stable signal peptide. After receptor-mediated internalization, arenaviruses converge in the endocytic pathway, where they are thought to undergo low-pH-triggered, GPC-mediated fusion with a late endosome membrane. A unique feature of LASV entry is a pH-dependent switch from a primary cell surface receptor (α-dystroglycan) to an endosomal receptor, lysosomal-associated membrane protein (Lamp1)...
January 2, 2018: MBio
https://www.readbyqxmd.com/read/29273094/b3galnt2-mutations-associated-with-non-syndromic-autosomal-recessive-intellectual-disability-reveal-a-lack-of-genotype-phenotype-associations-in-the-muscular-dystrophy-dystroglycanopathies
#20
Reza Maroofian, Moniek Riemersma, Lucas T Jae, Narges Zhianabed, Marjolein H Willemsen, Willemijn M Wissink-Lindhout, Michèl A Willemsen, Arjan P M de Brouwer, Mohammad Yahya Vahidi Mehrjardi, Mahmoud Reza Ashrafi, Benno Kusters, Tjitske Kleefstra, Yalda Jamshidi, Mojila Nasseri, Rolph Pfundt, Thijn R Brummelkamp, Mohammad Reza Abbaszadegan, Dirk J Lefeber, Hans van Bokhoven
BACKGROUND: The phenotypic severity of congenital muscular dystrophy-dystroglycanopathy (MDDG) syndromes associated with aberrant glycosylation of α-dystroglycan ranges from the severe Walker-Warburg syndrome or muscle-eye-brain disease to mild, late-onset, isolated limb-girdle muscular dystrophy without neural involvement. However, muscular dystrophy is invariably found across the spectrum of MDDG patients. METHODS: Using linkage mapping and whole-exome sequencing in two families with an unexplained neurodevelopmental disorder, we have identified homozygous and compound heterozygous mutations in B3GALNT2...
December 22, 2017: Genome Medicine
keyword
keyword
11815
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"