Genomes and Genes
Steven A Moore
Affiliation: University of Iowa
- Limb-girdle muscular dystrophiesFederica Piccolo
Department of Physiology and Biophysics and Department of Neurology, Howard Hughes Medical Institute, University of Iowa College of Medicine, Iowa City, Iowa 52242, USA
Adv Neurol 88:273-91. 2002
- Glial scaffold required for cerebellar granule cell migration is dependent on dystroglycan function as a receptor for basement membrane proteinsHuy Nguyen
Department of Pathology, 4270A Carver Biomedical Research Building, The University of Iowa, 285 Newton Road, Iowa City, IA 52242, USA
Acta Neuropathol Commun 1:58. 2013..While cerebellar dysplasia is a common feature of dystroglycanopathy, its pathogenesis has not been thoroughly investigated...
- Variable disease severity in Saudi Arabian and Sudanese families with c.3924 + 2 T > C mutation of LAMA2Claudia Di Blasi
Division of Neuromuscular Diseases and Neuroimmunology, Fondazione IRCCS Istituto Neurologico C, Besta, Milan, Italy
BMC Res Notes 4:534. 2011..abstract:..
- Polyunsaturated fatty acid synthesis and release by brain-derived cells in vitroS A Moore
Department of Pathology, The University of Iowa, Iowa City 52242, USA
J Mol Neurosci 16:195-200; discussion 215-21. 2001..These data suggest that endothelial cells and astrocytes cooperate in the local synthesis and release of PUFA, collectively maintaining a brain environment enriched in long-chain PUFA...
- Limb-girdle muscular dystrophy in the United StatesSteven A Moore
University of Iowa, Iowa City, 52242, USA
J Neuropathol Exp Neurol 65:995-1003. 2006..The most common LGMDs in the United States are calpainopathies, dysferlinopathies, sarcoglycanopathies, and dystroglycanopathies...
- Distinct functions of glial and neuronal dystroglycan in the developing and adult mouse brainJakob S Satz
Howard Hughes Medical Institute, and Department of Molecular Physiology, University of Iowa, Roy J and Lucille A Carver College of Medicine, Iowa City, Iowa 52242, USA
J Neurosci 30:14560-72. 2010..Differences in dystroglycan glycosylation in distinct cell types of the CNS may contribute to the diversity of dystroglycan function in the CNS, as well as to the broad clinical spectrum of type II lissencephalies...
- Unique role of dystroglycan in peripheral nerve myelination, nodal structure, and sodium channel stabilizationFumiaki Saito
Howard Hughes Medical Institute, Department of Physiology and Biophysics, University of Iowa Roy J and Lucille A Carver College of Medicine, Iowa City, IA 52242, USA
Neuron 38:747-58. 2003..Dystroglycan may be required for the normal maintenance of voltage-gated sodium channels at nodes of Ranvier, possibly by mediating trans interactions between Schwann cell microvilli and the nodal axolemma...
- LARGE glycans on dystroglycan function as a tunable matrix scaffold to prevent dystrophyMatthew M Goddeeris
1 Howard Hughes Medical Institute, Roy J and Lucille A Carver College of Medicine, The University of Iowa, Iowa City, Iowa 52242, USA 2 Department of Molecular Physiology and Biophysics, Roy J and Lucille A Carver College of Medicine, The University of Iowa, Iowa City, Iowa 52242, USA
Nature 503:136-40. 2013..Our results reveal that the LARGE-glycan of dystroglycan serves as a tunable extracellular matrix protein scaffold, the extension of which is required for normal skeletal muscle function. ..
- Deletion of brain dystroglycan recapitulates aspects of congenital muscular dystrophySteven A Moore
Department of Pathology, The University of Iowa, Iowa City, Iowa 52242 1101, USA
Nature 418:422-5. 2002..Our data strongly support the hypothesis that defects in dystroglycan are central to the pathogenesis of structural and functional brain abnormalities seen in CMD...
- LARGE can functionally bypass alpha-dystroglycan glycosylation defects in distinct congenital muscular dystrophiesRita Barresi
Howard Hughes Medical Institute, Department of Physiology and Biophysics, Roy J and Lucille A Carver College of Medicine, University of Iowa, Iowa City, Iowa 52242, USA
Nat Med 10:696-703. 2004..Our findings indicate that modulation of LARGE expression or activity is a viable therapeutic strategy for glycosyltransferase-deficient congenital muscular dystrophies...
- Astrocytes in the rat nucleus tractus solitarii are critical for cardiovascular reflex controlLi Hsien Lin
Laboratory of Neurobiology, Department of Neurology, Carver College of Medicine, The University of Iowa and Iowa City Veterans Affairs Medical Center, Iowa City, Iowa 52242, and Department of Pathology, Caver College of Medicine, The University of Iowa, Iowa City, Iowa 52242
J Neurosci 33:18608-17. 2013..Thus, NTS astrocytes may play a role in mediating cardiovascular reflex transmission through the NTS. ..
- Induction of cyclooxygenase-2 by anandamide in cerebral microvascular endotheliumPing Chen
Department of Biochemistry, 4 403 BSB, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA
Microvasc Res 69:28-35. 2005..These results indicate that AEA increased COX-2 expression at the transcriptional level through, at least in part, a cannabinoid receptor-1-mediated mechanism in cerebral microvascular endothelium...
- Disruption of DAG1 in differentiated skeletal muscle reveals a role for dystroglycan in muscle regenerationRonald D Cohn
Howard Hughes Medical Institute, Department of Physiology and Biophysics, Department of Neurology, Iowa City, IA 52242, USA
Cell 110:639-48. 2002..Therefore, inadequate repair of skeletal muscle by satellite cells represents an important mechanism affecting the pathogenesis of muscular dystrophy...
- Basal lamina strengthens cell membrane integrity via the laminin G domain-binding motif of alpha-dystroglycanRenzhi Han
Howard Hughes Medical Institute, Department of Molecular Physiology, The University of Iowa, Iowa City, IA 52242, USA
Proc Natl Acad Sci U S A 106:12573-9. 2009..These data provide direct mechanistic insight into how the dystroglycan-linked basal lamina contributes to the maintenance of sarcolemmal integrity and protects muscles from damage...
- A common disease-associated missense mutation in alpha-sarcoglycan fails to cause muscular dystrophy in miceKazuhiro Kobuke
Howard Hughes Medical Institute, The University of Iowa Roy J and Lucille A Carver College of Medicine, Iowa City, Iowa 52242, USA
Hum Mol Genet 17:1201-13. 2008..Our study presents an unexpected difference in the behavior of a missense-mutated protein in mice versus human patients, and emphasizes the need to understand species-specific protein quality control systems...
- Brain and eye malformations resembling Walker-Warburg syndrome are recapitulated in mice by dystroglycan deletion in the epiblastJakob S Satz
Howard Hughes Medical Institute and Department of Molecular Physiology, University of Iowa, Iowa City, Iowa 52242, USA
J Neurosci 28:10567-75. 2008....
- Visual impairment in the absence of dystroglycanJakob S Satz
Department of Molecular Physiology and Biophysics, Roy J and Lucille A Carver College of Medicine, Howard Hughes Medical Institute, University of Iowa, Iowa City, Iowa 52242, USA
J Neurosci 29:13136-46. 2009..In contrast to the role of alpha-dystroglycan extracellular interactions during early development of the CNS, beta-dystroglycan intracellular interactions are important for visual function but not the laminar development of the retina...
- Sarcolemma-localized nNOS is required to maintain activity after mild exerciseYvonne M Kobayashi
Howard Hughes Medical Institute, University of Iowa, Roy J and Lucille A Carver College of Medicine, 4283 Carver Biomedical Research Building, 285 Newton Road, Iowa City, Iowa 52242 1101, USA
Nature 456:511-5. 2008..Our results suggest that patients with an exaggerated fatigue response to mild exercise would show clinical improvement in response to treatment strategies aimed at improving exercise-induced signalling...
- Omega-oxidation of 20-hydroxyeicosatetraenoic acid (20-HETE) in cerebral microvascular smooth muscle and endothelium by alcohol dehydrogenase 4Xixuan H Collins
Department of Biochemistry, Carver College of Medicine, The University of Iowa, Iowa City, Iowa 52242, USA
J Biol Chem 280:33157-64. 2005..Although ADH4 and ADH3 are expressed in MSMC and MEC, the inhibition produced by N-heptylformamide suggests that ADH4 is primarily responsible for 20-COOH-AA formation in the cerebral microvasculature...
- Late adult-onset of X-linked myopathy with excessive autophagyCameron D Crockett
Department of Pathology, University of Iowa Carver College of Medicine, Room 5239B, RCP, 200 Hawkins Drive, Iowa City, Iowa, 52242, USA
Muscle Nerve 50:138-44. 2014..Mutations in VMA21 result in insufficient lysosome acidification, causing progressive proximal weakness with onset before age 20 years and loss of ambulation by middle age...
- Sudden death and myocardial lesions after damage to catecholamine neurons of the nucleus tractus solitarii in ratWilliam T Talman
Department of Neurology, Carver College of Medicine, University of Iowa and Department of Veterans Affairs Medical Center, Iowa, IA 52242, USA
Cell Mol Neurobiol 32:1119-26. 2012..Thus, cardiac and cardiovascular effects of lesions directed toward catecholamine neurons of the NTS are similar to those following damage directed toward NK1 receptor-containing neurons...
- ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndromeTobias Willer
Department of Molecular Physiology and Biophysics, University of Iowa Roy J and Lucille A Carver College of Medicine, Iowa City, Iowa, USA
Nat Genet 44:575-80. 2012..Finally, we show that recessive mutations in ISPD abolish the initial step in laminin-binding glycan synthesis by disrupting dystroglycan O-mannosylation. This establishes a new mechanism for WWS pathophysiology...
- Genetic ablation of complement C3 attenuates muscle pathology in dysferlin-deficient miceRenzhi Han
Howard Hughes Medical Institute, Department of Molecular Physiology and Biophysics, Department of Neurology, Department of Internal Medicine, Roy J and Lucille A Carver College of Medicine, The University of Iowa, Iowa City, Iowa, USA
J Clin Invest 120:4366-74. 2010..These results demonstrate that complement-mediated muscle injury is central to the pathogenesis of dysferlinopathy and suggest that targeting the complement system might serve as a therapeutic approach for this disease...
- Elevated oxidative membrane damage associated with genetic modifiers of Lyst-mutant phenotypesColleen M Trantow
Department of Molecular Physiology and Biophysics, The University of Iowa, Iowa City, Iowa, United States of America
PLoS Genet 6:e1001008. 2010..These results identify an association between oxidative damage to lipid membranes and the severity of Lyst-mutant phenotypes, revealing a new mechanism that contributes to pathophysiology involving LYST...
- Muscle fatigue increases the probability of developing hyperalgesia in miceTakeshi Yokoyama
Physical Therapy and Rehabilitation Science Graduate Program, Department of Pathology, Pain Research Program, University of Iowa, Iowa City, Iowa 52242, USA
J Pain 8:692-9. 2007..Clinically, this could relate to the development of pain from such conditions as repetitive strain injury, and may relate to the interrelationship between chronic pain and fatigue...
- Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophiesDaniel E Michele
Howard Hughes Medical Institute, Department of Physiology and Biophysics, University of Iowa, Iowa City, Iowa 52242 1101, USA
Nature 418:417-22. 2002....
- Dystroglycan on radial glia end feet is required for pial basement membrane integrity and columnar organization of the developing cerebral cortexTimothy D Myshrall
Department of Comparative Medicine, University of Washington, Seattle, Washington, USA
J Neuropathol Exp Neurol 71:1047-63. 2012....
- Limb-girdle muscular dystrophyKatherine D Mathews
Departments of Pediatrics and Neurology, University of Iowa Hospitals and Clinics, 200 Hawkins Drive, Iowa City, IA 52242, USA
Curr Neurol Neurosci Rep 3:78-85. 2003..For example, LGMD 2H appears to be due to mutations affecting the ubiquitin-proteasome pathway. A diagnostic approach is outlined based on clinical features, genetics, and commercially available testing...
- Hughlings Jackson and the role of the entorhinal cortex in temporal lobe epilepsy: from patient A to Doctor ZSahib S Khalsa
Department of Neurology, 1216 MERF, University of Iowa, Iowa City, IA 52242, USA
Epilepsy Behav 9:524-31. 2006..This finding validates Jackson's original description and suggests that the entorhinal cortex can play a role in seizure genesis...
- Cardiac pathology exceeds skeletal muscle pathology in two cases of limb-girdle muscular dystrophy type 2IMarta Margeta
Department of Pathology, University of California San Francisco, 513 Parnassus Avenue, HSW 514, San Francisco, California 94143, USA
Muscle Nerve 40:883-9. 2009....
- Cyclooxygenase-2 expression and activity are induced by amyloid-beta 1-42 in brain derived cellsMacKenzie Hilfers Bilunas
Department of Pathology, University of Iowa, 1046 Medical Laboratories, Iowa City, IA 52242, USA
Adv Exp Med Biol 507:93-9. 2002
- Urologic and gastrointestinal symptoms in the dystroglycanopathiesCameron D Crockett
From the Departments of Pediatrics C D C, C S C, R M R, K D M, Urology L A B, C S C, Pathology S A M, and Neurology K D M, University of Iowa Carver College of Medicine, Iowa City and Department of Biostatistics K L, M B Z, College of Public Health, University of Iowa, Iowa City
Neurology 84:532-9. 2015..To determine the frequency of urologic and gastrointestinal (GI) symptoms in a cohort of individuals with dystroglycanopathy compared with healthy household controls...
- LMNA variants cause cytoplasmic distribution of nuclear pore proteins in Drosophila and human muscleGeorge Dialynas
Department of Biochemistry, University of Iowa, Iowa City, IA 52242, USA
Hum Mol Genet 21:1544-56. 2012....
- Evaluation of commercial dysferlin antibodies on canine, mouse and human skeletal muscleLing T Guo
Department of Pathology, University of California San Diego, La Jolla, CA, USA
Neuromuscul Disord 20:820-5. 2010..Use of select antibodies for immunostaining and immunoblotting, and optimization of immunostaining methods, should increase the sensitivity of detecting dysferlin deficiency in skeletal muscle...
- Unilateral carrageenan injection into muscle or joint induces chronic bilateral hyperalgesia in ratsRajan Radhakrishnan
Graduate Program in Physical Therapy and Rehabilitation Science, University of Iowa, 100 Medical Education Building 1 252, Iowa, IA 52242 1190, USA
Pain 104:567-77. 2003..Furthermore, 3% carrageenan injected into deep tissues produces hyperalgesia that spreads to the contralateral side, at the same time period as the inflammation transforms from acute to chronic...
- Metabolism of anandamide in cerebral microvascular endothelial cellsPing Chen
Department of Biochemistry, University of Iowa College of Medicine, 4 403 BSB, Iowa City, IA 52242, USA
Prostaglandins Other Lipid Mediat 73:59-72. 2004....
- Identification of a functional peroxisome proliferator-activated receptor response element in the rat catalase promoterGeoffrey D Girnun
Free Radical and Radiation Biology Program, University of Iowa, Iowa City, IA 52242, USA
Mol Endocrinol 16:2793-801. 2002..Thus, in addition to transrepression of proinflammatory transcription factors, PPARgamma may also be modulating catalase expression, and hence down-regulating the inflammatory response via scavenging of reactive oxygen species...
- Differential activation of catalase expression and activity by PPAR agonists: implications for astrocyte protection in anti-glioma therapyNicholas K H Khoo
Department of Radiation Oncology, Free Radical and Radiation Biology, Holden Comprehensive Cancer Center, The University of Iowa, Iowa City, IA 52242, USA Department of Pharmacology and Chemical Biology, University of Pittsburgh, Pittsburgh, Pennsylvania 15261, USA
Redox Biol 1:70-9. 2013....
- CaMKII determines mitochondrial stress responses in heartMei ling A Joiner
Department of Internal Medicine and Cardiovascular Center, Carver College of Medicine, University of Iowa, Iowa City, Iowa 52242, USA
Nature 491:269-73. 2012....
- Infantile onset CMT2D/dSMA V in monozygotic twins due to a mutation in the anticodon-binding domain of GARSJamie M Eskuri
The University of Iowa Carver College of Medicine, 200 Hawkins Drive, Iowa City, IA 52242, USA
J Peripher Nerv Syst 17:132-4. 2012....
- The oxygen radical scavenger pyrrolidine dithiocarbamate enhances interleukin-1beta-induced cyclooxygenase-2 expression in cerebral microvascular smooth muscle cellsXiang Fang
Department of Biochemistry, University of Iowa College of Medicine, Iowa City, IA 52242, USA
Microvasc Res 64:405-13. 2002..These results suggest that endogenous oxygen radicals may blunt COX-2 induced by IL-1beta through an effect on translation...
- Cardiac damage after lesions of the nucleus tractus solitariiAmeya Nayate
Department of Neurology, University of Iowa, Iowa City, IA 52242, USA
Am J Physiol Regul Integr Comp Physiol 296:R272-9. 2009..This study supports the hypothesis that NTS lesions interrupting the baroreflex may induce cardiac arrhythmias and myocardial changes similar to those seen in humans with central lesions and may lead to sudden cardiac death...
- Dysferlin-deficient muscular dystrophy features amyloidosisSimone Spuler
Muscle Research Unit, Experimental and Clinical Research Center at the Charité and the Max Delbrück Center, Berlin, Germany
Ann Neurol 63:323-8. 2008..Dysferlin (DYSF) gene mutations cause limb girdle muscular dystrophy type 2B and Miyoshi's myopathy. The consequences of DYSF mutations on protein structure are poorly understood...
- Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severityRishika A Pace
Murdoch Childrens Research Institute and Department of Paediatrics, University of Melbourne, Royal Children s Hospital, Victoria, Australia
Ann Neurol 64:294-303. 2008..Glycine mutations in the triple helix have been identified in both Bethlem and Ullrich congenital muscular dystrophy, but it is not known why they cause these different phenotypes...
- Both laminin and Schwann cell dystroglycan are necessary for proper clustering of sodium channels at nodes of RanvierSimona Occhi
DIBIT, San Raffaele Scientific Institute, 20132 Milan, Italy
J Neurosci 25:9418-27. 2005..Finally, abnormal sodium channel clusters are present in a patient with MDC1A, providing a molecular basis for the reduced nerve conduction velocity in this disorder...
- Progressive external ophthalmoplegia and vision and hearing loss in a patient with mutations in POLG2 and OPA1Silvio Ferraris
Department of Pediatrics, University of Turin, Turin, Italy
Arch Neurol 65:125-31. 2008..To describe the clinical features, muscle pathological characteristics, and molecular studies of a patient with a mutation in the gene encoding the accessory subunit (p55) of polymerase gamma (POLG2) and a mutation in the OPA1 gene...
- Deep white matter pathologic features in watershed regions: a novel pattern of central nervous system involvement in MELASLiana G Apostolova
Department of Neurology, University of California, Los Angeles, USA
Arch Neurol 62:1154-6. 2005..Magnetic resonance imaging (MRI) abnormalities typically involve the cortical gray and the adjacent subcortical white matter...
- Human angiotensin II type-2 receptor inhibition of insulin-mediated ERK-2 activity via a G-protein coupled signaling pathwaySteven A Moore
Department of Cell and Structural Biology, University of Illinois, B107 Chemical and Life Science Building, 601 S Goodwin Ave, Urbana, IL 61801, USA
Brain Res Mol Brain Res 124:62-9. 2004..Our results support the hypothesis that the AT(2) receptor inhibits insulin-induced ERK-2 activity via a G-protein coupled pathway involving the up-regulation of PP2A...
- 20-Hydroxyeicosatetraenoic acid is a potent dilator of mouse basilar artery: role of cyclooxygenaseXiang Fang
Dept of Medicine, Harbor Hospital Center, 3001 S Hanover St, Baltimore MD 21225, USA
Am J Physiol Heart Circ Physiol 291:H2301-7. 2006..Whereas the conversion of 20-HETE to 20-OH-PGE(2) and production of endogenous prostaglandins probably are primarily responsible for vasodilation, the production of 20-COOH-AA also may contribute to this process...
- Astrocyte dystroglycan complexes in brain developmentSteven Moore; Fiscal Year: 2003..This strategy should disrupt the astrocyte DGC beginning in the latter half of embryonic development. We believe this strategy will produce mice with neuronal migration and cerebrovascular defects. ..
- Congenital Muscular Dystrophy WorkshopSteven Moore; Fiscal Year: 2008..Life expectancy ranges from a few months to a few years. [unreadable] [unreadable] [unreadable] [unreadable]..