Research Topics
Genomes and Genes
| K P CampbellSummaryAffiliation: University of Iowa Country: USA Publications
Research Grants
| Collaborators
|
Detail Information
Publications
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:..
Dystrophin deficiency exacerbates skeletal muscle pathology in dysferlin-null miceRenzhi Han
Department of Molecular Physiology and Biophysics, Howard Hughes Medical Institute, Roy J and Lucille A Carver College of Medicine, The University of Iowa, 285 Newton Road, 4283 CBRB, Iowa City, IA 52242, USA
Skelet Muscle 1:35. 2011..abstract:..
Proteomic analysis of plasma membrane and secretory vesicles from human neutrophilsDeepa Jethwaney
Buck Institute for Age Research, Novato, CA 94945, USA
Proteome Sci 5:12. 2007....
Skeletal muscle basement membrane-sarcolemma-cytoskeleton interaction minireview seriesKevin P Campbell
Howard Hughes Medical Institute and Department of Physiology, University of Iowa College of Medicine, Iowa City, Iowa 52242, USA
J Biol Chem 278:12599-600. 2003
Membrane targeting and stabilization of sarcospan is mediated by the sarcoglycan subcomplexR H Crosbie
Howard Hughes Medical Institute, Department of Physiology and Biophysics, University of Iowa College of Medicine, Iowa City, Iowa 52242, USA
J Cell Biol 145:153-65. 1999..In addition, the SG- SPN subcomplex functions to stabilize alpha-dystroglycan to the muscle plasma membrane. Taken together, our data provide important information about assembly and function of the SG-SPN subcomplex...
Expression of gamma -sarcoglycan in smooth muscle and its interaction with the smooth muscle sarcoglycan-sarcospan complexR Barresi
Howard Hughes Medical Institute, Department of Physiology and Biophysics and Department of Neurology, University of Iowa College of Medicine, Iowa City, Iowa 52242, USA
J Biol Chem 275:38554-60. 2000..Taken together, our results prove that the sarcoglycan complex in vascular and visceral smooth muscle consists of epsilon-, beta-, gamma-, and delta-sarcoglycans and is associated with sarcospan...
Disruption of the beta-sarcoglycan gene reveals pathogenetic complexity of limb-girdle muscular dystrophy type 2EM Durbeej
Howard Hughes Medical Institute, Department of Physiology and Biophysics, University of Iowa College of Medicine, Iowa City 52242, USA
Mol Cell 5:141-51. 2000..Thus, perturbation of vascular function together with disruption of the epsilon-sarcoglycan-containing complex represents a novel mechanism in the pathogenesis of LGMD 2E...
Molecular and genetic characterization of sarcospan: insights into sarcoglycan-sarcospan interactionsR H Crosbie
Howard Hughes Medical Institute, Department of Physiology and Biophysics, Department of Neurology, University of Iowa College of Medicine, Iowa City 52242, USA
Hum Mol Genet 9:2019-27. 2000..These findings are important as they contribute to a greater understanding of the structural determinants required for proper sarcoglycan-sarcospan expression and function...
epsilon-sarcoglycan replaces alpha-sarcoglycan in smooth muscle to form a unique dystrophin-glycoprotein complexV Straub
Howard Hughes Medical Institute, Department of Physiology and Biophysics, Department of Neurology, University of Iowa College of Medicine, Iowa City, Iowa 52242, USA
J Biol Chem 274:27989-96. 1999..Our results also suggest a molecular basis for possible differential smooth muscle dysfunction in sarcoglycan-deficient patients...
Progressive muscular dystrophy in alpha-sarcoglycan-deficient miceF Duclos
Howard Hughes Medical Institute, Department of Physiology and Biophysics and Department of Neurology, University of Iowa College of Medicine, Iowa City, Iowa 52242 1101, USA
J Cell Biol 142:1461-71. 1998..The Sgca-deficient mice will be a valuable model for elucidating the pathogenesis of sarcoglycan deficient limb-girdle muscular dystrophies and for the development of therapeutic strategies for this disease...
Prevention of cardiomyopathy in mouse models lacking the smooth muscle sarcoglycan-sarcospan complexR D Cohn
Howard Hughes Medical Institute, Department of Physiology and Biophysics, Department of Neurology, University of Iowa College of Medicine, Iowa City, Iowa 52242, USA
J Clin Invest 107:R1-7. 2001....
Biochemical characterization of ultrastructural localization of a major junctional sarcoplasmic reticulum glycoprotein (triadin)C M Knudson
Howard Hughes Medical Institute, Iowa City, Iowa
J Biol Chem 268:12637-45. 1993....
Identification and characterization of the dystrophin anchoring site on beta-dystroglycanD Jung
Howard Hughes Medical Institute, University of Iowa College of Medicine, Iowa City 52242, USA
J Biol Chem 270:27305-10. 1995....
Identification of alpha-syntrophin binding to syntrophin triplet, dystrophin, and utrophinB Yang
Howard Hughes Medical Institute, University of Iowa College of Medicine, Iowa City 52242
J Biol Chem 270:4975-8. 1995..Our data suggest that alpha-syntrophin binds all syntrophin isoforms, and syntrophin directly interacts with dystrophin through more than one binding site in dystrophin exons 73 and 74 including amino acids 3447-3481...
Animal models for muscular dystrophy show different patterns of sarcolemmal disruptionV Straub
Department of, Howard Hughes Medical Institute, University of Iowa College of Medicine, Iowa City, Iowa 52242, USA
J Cell Biol 139:375-85. 1997....
Dystrophin-glycoprotein complex is highly enriched in isolated skeletal muscle sarcolemmaK Ohlendieck
Howard Hughes Medical Institute, University of Iowa College of Medicine, Iowa City 52242
J Cell Biol 112:135-48. 1991..Thus the absence of dystrophin in Duchenne muscular dystrophy may result in a major disruption of the cytoskeletal network underlying the sarcolemma in dystrophic muscle...
Human dystroglycan: skeletal muscle cDNA, genomic structure, origin of tissue specific isoforms and chromosomal localizationO Ibraghimov-Beskrovnaya
Howard Hughes Medical Institute, University of Iowa College of Medicine, Iowa City 52242
Hum Mol Genet 2:1651-7. 1993..Therefore, we hypothesize that variable glycosylation of the conserved protein core might modulate laminin binding. The relationship of dystroglycan to human diseases is discussed...
Sarcospan, the 25-kDa transmembrane component of the dystrophin-glycoprotein complexR H Crosbie
Howard Hughes Medical Institute, Department of Physiology and Biophysics, University of Iowa College of Medicine, Iowa City, Iowa 52242, USA
J Biol Chem 272:31221-4. 1997..The gene encoding sarcospan maps to human chromosome 12p11.2, which falls within the genetic locus for congenital fibrosis of the extraocular muscle, an autosomal dominant muscular dystrophy...
Heterogeneity of the 59-kDa dystrophin-associated protein revealed by cDNA cloning and expressionB Yang
Howard Hughes Medical Institute, University of Iowa College of Medicine, Iowa City 52242
J Biol Chem 269:6040-4. 1994..Our results suggest that the 59-DAP triplet may contain different protein species and that the 59-1 DAP may associate more specifically with dystrophin than with utrophin...
Disruption of the sarcoglycan-sarcospan complex in vascular smooth muscle: a novel mechanism for cardiomyopathy and muscular dystrophyR Coral-Vazquez
Howard Hughes Medical Institute, Department of Physiology and Biophysics, University of Iowa College of Medicine, Iowa City 52242, USA
Cell 98:465-74. 1999..Our data indicate that disruption of the SG-SSPN complex in vascular smooth muscle perturbs vascular function, which initiates cardiomyopathy and exacerbates muscular dystrophy...
mdx muscle pathology is independent of nNOS perturbationR H Crosbie
Howard Hughes Medical Institute, Department of Physiology and Biophysics, University of Iowa College of Medicine, Iowa City, IA 52242, USA
Hum Mol Genet 7:823-9. 1998..Furthermore, muscle from nNOS-dystrophin null mice maintain the histological features of mdx pathology. Our results demonstrate that relocalization of nNOS to the cytosol does not contribute significantly to mdx pathogenesis...
Dystroglycan inside and outM D Henry
Howard Hughes Medical Institute Department of Physiology and Biophysics Department of Neurology University of Iowa College of Medicine 400 Eckstein Medical Research Building, Iowa City, IA 52242, USA
Curr Opin Cell Biol 11:602-7. 1999..Together, these advances begin to help elucidate important biological roles for dystroglycan in development and disease...
Beta subunit heterogeneity in N-type Ca2+ channelsV E Scott
Howard Hughes Medical Institute and the Program in Neuroscience, Department of Physiology and Biophysics, University of Iowa College of Medicine, Iowa City, Iowa 52242, USA
J Biol Chem 271:3207-12. 1996..Thus, our data demonstrate important heterogeneity in the beta subunit composition of the N-type Ca2+ channels, which may be responsible for some of the diverse kinetic properties recorded from neurons...
Biochemical characterization and molecular cloning of cardiac triadinW Guo
Howard Hughes Medical Institute, University of Iowa College of Medicine, Iowa City 52242, USA
J Biol Chem 271:458-65. 1996....
Characterization of delta-sarcoglycan, a novel component of the oligomeric sarcoglycan complex involved in limb-girdle muscular dystrophyD Jung
Howard Hughes Medical Institute and Department of Physiology and Biophysics, University of Iowa College of Medicine, Iowa City, Iowa 52242, USA
J Biol Chem 271:32321-9. 1996..Furthermore, we have mapped the human delta-sarcoglycan gene to chromosome 5q33-q34 in a region overlapping the recently linked autosomal recessive LGMD2F locus...
Mild congenital muscular dystrophy in two patients with an internally deleted laminin alpha2-chainV Allamand
Howard Hughes Medical Institute and Department of Physiology and Biophysics, University of Iowa College of Medicine, Iowa City 52242, USA
Hum Mol Genet 6:747-52. 1997..This situation presents a striking analogy with Becker muscular dystrophy, where in-frame deletions in the dystrophin gene result in the expression of a semi-functional protein and lead to a mild phenotype...
Primary structure and muscle-specific expression of the 50-kDa dystrophin-associated glycoprotein (adhalin)S L Roberds
Howard Hughes Medical Institute, University of Iowa College of Medicine, Iowa City 52242
J Biol Chem 268:23739-42. 1993..Finally, 50-DAG mRNA is present in mdx and Duchenne muscular dystrophy (DMD) muscle, indicating that the down-regulation of this protein in DMD and the mdx mouse is likely a post-translational event...
Absence of gamma-sarcoglycan (35 DAG) in autosomal recessive muscular dystrophy linked to chromosome 13q12D Jung
Howard Hughes Medical Institute and Department of Physiology and Biophysics, University of Iowa College of Medicine, Iowa City 52242, USA
FEBS Lett 381:15-20. 1996..In addition, we show that in normal muscle alpha-, beta-, and gamma-sarcoglycan constitute a tightly associated sarcolemma complex which cannot be disrupted by SDS treatment...
Mild deficiency of dystrophin-associated proteins in Becker muscular dystrophy patients having in-frame deletions in the rod domain of dystrophinK Matsumura
Howard Hughes Medical Institute, University of Iowa College of Medicine, Iowa City 52242
Am J Hum Genet 53:409-16. 1993....
Direct binding of G-protein betagamma complex to voltage-dependent calcium channelsM De Waard
Howard Hughes Medical Institute, University of Iowa College of Medicine, Iowa City 52242, USA
Nature 385:446-50. 1997....
Beta-sarcoglycan: genomic analysis and identification of a novel missense mutation in the LGMD2E Amish isolateF Duclos
Howard Hughes Medical Institute, Department of Physiology and Biophysics and Department of Neurology, University of Iowa College of Medicine, Iowa City 52242, USA
Neuromuscul Disord 8:30-8. 1998..Interestingly, in addition to the loss of the entire sarcoglycan complex, we detected a reduction of alpha-dystroglycan which suggests a role for the sarcoglycan complex in stabilizing alpha-dystroglycan at the sarcolemma...
Deficiency of merosin in dystrophic dy mice and genetic linkage of laminin M chain gene to dy locusY Sunada
Howard Hughes Medical Institute, University of Iowa College of Medicine, Iowa City 52242
J Biol Chem 269:13729-32. 1994....
Primary structure and topological analysis of a skeletal muscle-specific junctional sarcoplasmic reticulum glycoprotein (triadin)C M Knudson
Howard Hughes Medical Institute, Iowa City
J Biol Chem 268:12646-54. 1993..The abundance and localization of this protein suggest that it plays an important regulatory or structural role in excitation-contraction coupling in skeletal muscle...
Dystrophin-associated proteins are greatly reduced in skeletal muscle from mdx miceK Ohlendieck
Howard Hughes Medical Institute, University of Iowa College of Medicine, Iowa City 52242
J Cell Biol 115:1685-94. 1991....
Analysis of excitation-contraction-coupling components in chronically stimulated canine skeletal muscleK Ohlendieck
Howard Hughes Medical Institute, University of Iowa College of Medicine, Iowa City
Eur J Biochem 202:739-47. 1991....
Primary structure of the gamma subunit of the DHP-sensitive calcium channel from skeletal muscleS D Jay
Howard Hughes Medical Institute, University of Iowa College of Medicine, Iowa City 52242
Science 248:490-2. 1990..The gamma subunit may play a role in assembly, modulation, or the structure of the skeletal muscle calcium channel...
Sarcospan-deficient mice maintain normal muscle functionC S Lebakken
Departments of Physiology and Biophysics and Neurology, Howard Hughes Medical Institute, Iowa City, Iowa 52242, USA
Mol Cell Biol 20:1669-77. 2000..These data suggest either that sarcospan is not required for normal DGC function or that the Sspn-deficient muscle is compensating for the absence of sarcospan, perhaps by utilizing another protein to carry out its function...
Dystroglycan: an extracellular matrix receptor linked to the cytoskeletonM D Henry
Howard Hughes Medical Institute, Department of Physiology, University of Iowa College of Medicine, 400 Eckstein Medical Research Building, Iowa City, IA 5224, 2 USA
Curr Opin Cell Biol 8:625-31. 1996....
The ryanodine receptor/Ca2+ release channelP S McPherson
Howard Hughes Medical Institute, University of Iowa College of Medicine, Iowa City 52242
J Biol Chem 268:13765-8. 1993
Primary structure of dystrophin-associated glycoproteins linking dystrophin to the extracellular matrixO Ibraghimov-Beskrovnaya
Howard Hughes Medical Institute, University of Iowa College of Medicine, Iowa City 52242
Nature 355:696-702. 1992....
SH3 domain-mediated interaction of dystroglycan and Grb2B Yang
Howard Hughes Medical Institute, College of Medicine, Iowa City, Iowa, USA
J Biol Chem 270:11711-4. 1995..The specific dystroglycan-Grb2 interaction may play an important role in extracellular matrix-mediated signal transduction and/or cytoskeleton organization in skeletal muscle that may be essential for muscle cell viability...
Calcium channel beta-subunit binds to a conserved motif in the I-II cytoplasmic linker of the alpha 1-subunitM Pragnell
Howard Hughes Medical Institute, Department of Physiology, University of Iowa College of Medicine, Iowa City 52242
Nature 368:67-70. 1994..Conservation of the beta-subunit binding motif in these functionally distinct calcium channels suggests a critical role for the I-II cytoplasmic linker of the alpha 1-subunit in channel modulation by the beta-subunit...
Biochemical and biophysical evidence for gamma 2 subunit association with neuronal voltage-activated Ca2+ channelsM G Kang
Howard Hughes Medical Institute, Department of Physiology and Biophysics, University of Iowa College of Medicine, Iowa City, Iowa 52242, USA
J Biol Chem 276:32917-24. 2001..Furthermore, the gamma(2) subunit likely contributes to the fine-tuning of neuronal Ca(2+) channels by counterbalancing the effects of the alpha(2)delta subunit...
Reduced expression of dystroglycan in breast and prostate cancerM D Henry
Howard Hughes Medical Institute, Department of Physiology and Biophysics, University of Iowa College of Medicine, Iowa City, IA 52242, USA
Hum Pathol 32:791-5. 2001..These data suggest that reduced expression of dystroglycan in prostate and breast cancers may lead to abnormal cell-extracellular matrix interactions and thus contribute to progression to metastatic disease...
Association of triadin with the ryanodine receptor and calsequestrin in the lumen of the sarcoplasmic reticulumW Guo
Howard Hughes Medical Institute, University of Iowa College of Medicine, Iowa City 52242, USA
J Biol Chem 270:9027-30. 1995....
Distinct roles for dystroglycan, beta1 integrin and perlecan in cell surface laminin organizationM D Henry
Howard Hughes Medical Institute, University of Iowa College of Medicine, Department of Physiology and Biophysics and Department of Neurology, Iowa City, IA 52242, USA
J Cell Sci 114:1137-44. 2001....
Dystroglycan in development and diseaseM Durbeej
Howard Hughes Medical Institute, Department of Physiology and Biophysics, Iowa City, IA 52242, USA
Curr Opin Cell Biol 10:594-601. 1998....
Absence of the skeletal muscle sarcolemma chloride channel ClC-1 in myotonic miceC A Gurnett
Howard Hughes Medical Institute, Department of Physiology and Biophysics, University of Iowa, College of Medicine, Iowa City 52242, USA
J Biol Chem 270:9035-8. 1995..Immunohistochemistry of skeletal muscle from ADR and other mouse models of human muscle disease demonstrate that the absence of ClC-1 chloride channel is a defect specific to ADR mice...
Muscular dystrophies and the dystrophin-glycoprotein complexV Straub
Howard Hughes Medical Institute, Department of Physiology and Biophysics, University of Iowa College of Medicine, Iowa City 52242, USA
Curr Opin Neurol 10:168-75. 1997....
Identification of a novel mutant transcript of laminin alpha 2 chain gene responsible for muscular dystrophy and dysmyelination in dy2J miceY Sunada
Howard Hughes Medical Institute, University of Iowa College of Medicine, Iowa City 52242, USA
Hum Mol Genet 4:1055-61. 1995..Thus, the mutant alpha 2 chain could disrupt the formation of the laminin network and lead to muscle cell degeneration. Our results provide a molecular basis of muscular dystrophy and dysmyelination of peripheral nerve...
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...
Exercise-induced left ventricular systolic dysfunction in women heterozygous for dystrophinopathyRobert M Weiss
University of Iowa Hospitals and Clinics, Division of Cardiovascular Medicine, Department of Internal Medicine, 200 Hawkins Drive, Room E317 1 GH, Iowa City, IA 52242, USA
J Am Soc Echocardiogr 23:848-53. 2010..Female "carriers" also can develop overt disease. The purpose of this study was to ascertain the prevalence of cardiac contractile abnormalities in dystrophinopathy carriers...
Loss of sarcolemma nNOS in sarcoglycan-deficient muscleRachelle H Crosbie
Howard Hughes Medical Institute, Department of Physiology and Biophysics, University of Iowa College of Medicine, Iowa City, Iowa 52242, USA
FASEB J 16:1786-91. 2002..Our data suggest that loss of nNOS may contribute to muscle pathology in AR-LGMD with primary mutations in the sarcoglycans...
Structural characterization of the dihydropyridine-sensitive calcium channel alpha 2-subunit and the associated delta peptidesS D Jay
Howard Hughes Medical Institute, University of Iowa College of Medicine, Iowa City 52242
J Biol Chem 266:3287-93. 1991..The data support a model of the alpha 2-subunit in which the propeptide is processed into two chains that remain attached through disulfide linkages...
Dysferlin and the plasma membrane repair in muscular dystrophyDimple Bansal
Howard Hughes Medical Institute, Department of Physiology and Biophysics and Department of Neurology, University of Iowa, Roy J and Lucille A Carver College of Medicine, Iowa City, IA 52242, USA
Trends Cell Biol 14:206-13. 2004..Here, we discuss the current knowledge of dysferlin function in the repair of the plasma membrane of the skeletal muscle cells...
Defective membrane repair in dysferlin-deficient muscular dystrophyDimple Bansal
Howard Hughes Medical Institute, Department of Physiology and Biophysics, University of Iowa Roy J and Lucille A Carver College of Medicine, Iowa City, Iowa 52242, USA
Nature 423:168-72. 2003..Our findings show that disruption of the muscle membrane repair machinery is responsible for dysferlin-deficient muscle degeneration, and highlight the importance of this basic cellular mechanism of membrane resealing in human disease...
Muscular dystrophies involving the dystrophin-glycoprotein complex: an overview of current mouse modelsMadeleine Durbeej
Howard Hughes Medical Institute, Department of Physiology and Biophysics, University of Iowa College of Medicine, Iowa City, Iowa 52242, USA
Curr Opin Genet Dev 12:349-61. 2002....
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...
O-mannosyl phosphorylation of alpha-dystroglycan is required for laminin bindingTakako Yoshida-Moriguchi
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, IA 52242 1101, USA
Science 327:88-92. 2010..These findings expand our understanding of the mechanisms that underlie congenital muscular dystrophy...
Molecular recognition by LARGE is essential for expression of functional dystroglycanMotoi Kanagawa
Howard Hughes Medical Institute, Department of Physiology and Biophysics, The University of Iowa Roy J and Lucille A Carver College of Medicine, Iowa City, Iowa 52242, USA
Cell 117:953-64. 2004..Therefore, molecular recognition of dystroglycan by LARGE is a key determinant in the biosynthetic pathway to produce mature and functional dystroglycan...
Gene transfer establishes primacy of striated vs. smooth muscle sarcoglycan complex in limb-girdle muscular dystrophyMadeleine Durbeej
Howard Hughes Medical Institute, Department of Physiology and Biophysics, University of Iowa, Roy J. and Lucille A. Carver College of Medicine, Iowa City, IA 52242-1101, USA
Proc Natl Acad Sci U S A 100:8910-5. 2003..Thus, virus-mediated gene transfer of sarcoglycans to skeletal muscle in combination with pharmacological prevention of cardiomyopathy constitute promising therapeutic strategies for limb-girdle muscular dystrophies...
Association of dystrophin-related protein with dystrophin-associated proteins in mdx mouse muscleK Matsumura
Howard Hughes Medical Institute, University of Iowa College of Medicine, Iowa City 52242
Nature 360:588-91. 1992..Because these muscles show minimal pathological changes, our results could provide a basis for the upregulation of DRP as a potential therapeutic approach...
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
Dystrophin-glycoprotein complex: post-translational processing and dystroglycan functionDaniel E Michele
Department of Physiology and Biophysics, Howard Hughes Medical Institute, 400 ERMB, Carver College of Medicine, University of Iowa, Iowa City, IA 52242-1101, USA
J Biol Chem 278:15457-60. 2003
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...
Dysferlin-mediated membrane repair protects the heart from stress-induced left ventricular injuryRenzhi Han
Howard Hughes Medical Institute, The University of Iowa, Roy J and Lucille A Carver College of Medicine, Iowa City, IA 52242, USA
J Clin Invest 117:1805-13. 2007..Thus, our study establishes what we believe is a novel mechanism underlying the cardiomyopathy that results from a defective membrane repair in the absence of dysferlin...
Unraveling the ribbon synapseJakob S Satz
Howard Hughes Medical Institute, Department of Molecular Physiology and Biophysics, 4283 Carver Biomedical Research Building, 285 Newton Road, Roy J. and Lucille A. Carver College of Medicine, University of Iowa, Iowa City, Iowa 52242, USA
Nat Neurosci 11:857-9. 2008
Fukutin-related protein associates with the sarcolemmal dystrophin-glycoprotein complexAaron M Beedle
Howard Hughes Medical Institute HHMI, Departments of Molecular Physiology, University of Iowa Carver College of Medicine, Iowa City, Iowa 52242, USA
J Biol Chem 282:16713-7. 2007..These data offer the first evidence of an FKRP complex in muscle and suggest that FKRP may influence the glycosylation status of dystroglycan from within the sarcolemmal dystrophin-glycoprotein complex...
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...
Sarcoglycan complex: implications for metabolic defects in muscular dystrophiesSéverine Groh
Howard Hughes Medical Institute, University of Iowa Roy J and Lucille A Carver College of Medicine, Iowa City, Iowa 52242 1101, USA
J Biol Chem 284:19178-82. 2009....
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...
Characterization of aquaporin-4 in muscle and muscular dystrophyRachelle H Crosbie
Howard Hughes Medical Institute, Department of Physiology and Biophysics, University of Iowa College of Medicine, Iowa City, Iowa 52242, USA
FASEB J 16:943-9. 2002..Taken together, our data demonstrate that AQP4 loss in skeletal muscle correlates with muscular dystrophy and is a common feature of pathogenesis...
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...
Dysferlin and muscle membrane repairRenzhi Han
Howard Hughes Medical Institute, Department of Molecular Physiology and Biophysics, Roy J and Lucille A Carver College of Medicine, The University of Iowa, Iowa City, IA 52242, USA
Curr Opin Cell Biol 19:409-16. 2007..Future research on dysferlin and its interacting partners will enhance the understanding of this important process and provide novel avenues to potential therapies...
A functional AMPA receptor-calcium channel complex in the postsynaptic membraneMyoung-Goo Kang
Howard Hughes Medical Institute and Departments of Physiology and Biophysics, Internal Medicine, and Neurology, University of Iowa Roy J. and Lucille A. Carver College of Medicine, Iowa City, IA 52242, USA
Proc Natl Acad Sci U S A 103:5561-6. 2006....
Dystroglycan: from biosynthesis to pathogenesis of human diseaseRita Barresi
Howard Hughes Medical Institute, Department of Physiology and Biophysics, Roy J. and Lucille A. Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA
J Cell Sci 119:199-207. 2006..Our increased understanding of the mechanisms of interaction of dystroglycan with its ligands has become an essential tool in deciphering the biological processes related to the human diseases in which the proteins are implicated...
Basolateral entry and release of New and Old World arenaviruses from human airway epitheliaDouglas E Dylla
The Roy J and Lucille A Carver College of Medicine, University of Iowa, Iowa City, Iowa 52242, USA
J Virol 82:6034-8. 2008..Viral egress from infected epithelia exhibited basolateral polarity. This study demonstrates that respiratory entry of arenaviruses occurs via basolateral receptors...
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....
Loss of alpha-dystroglycan laminin binding in epithelium-derived cancers is caused by silencing of LARGEDaniel Beltran Valero de Bernabe
Howard Hughes Medical Institute, University of Iowa, Roy J and Lucille A Carver College of Medicine, Iowa City, Iowa 52242 1101, USA
J Biol Chem 284:11279-84. 2009....
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...
Disruption of perlecan binding and matrix assembly by post-translational or genetic disruption of dystroglycan functionMotoi Kanagawa
Department of Physiology and Biophysics, Howard Hughes Medical Institute, Roy J and Lucille A Carver College of Medicine, The University of Iowa, 400 Eckstein Medical Building, Iowa City, IA 52242, USA
FEBS Lett 579:4792-6. 2005..These data suggest functional disruption of the trimolecular complex in glycosylation-deficient muscular dystrophy...
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...
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....
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...
Abnormal coronary function in mice deficient in alpha1H T-type Ca2+ channelsChien Chang Chen
Howard Hughes Medical Institute, University of Iowa, Iowa City, IA 52242, USA
Science 302:1416-8. 2003..Furthermore, acute blockade of T-channels with Ni2+ prevented relaxation of wild-type coronary arteries. Thus, Ca2+ influx through alpha1H T-type Ca2+ channels is essential for normal relaxation of coronary arteries...
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...
C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathyVirginie Carmignac
Institut National de la Sante et de la Recherche Médicale U582, Institut de Myologie, Groupe Hospitalier Pitie Salpetriere, France
Ann Neurol 61:340-51. 2007..Our aim was to delineate the phenotype and determine the genetic defects in two consanguineous families with an early-onset, recessive muscle and cardiac disorder...
Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weaknessTerumi Murakami
Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan
Ann Neurol 60:597-602. 2006..Fukuyama-type congenital muscular dystrophy is one of the disorders associated with glycosylation defects of alpha-dystroglycan, an indispensable molecule for intra-extra cell membrane linkage...
Congenital muscular dystrophy with glycosylation defects of alpha-dystroglycan in JapanHiroshi Matsumoto
Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP, 4-1-1 Ogawahigashi, Kodaira, Tokyo 187-8502, Japan
Neuromuscul Disord 15:342-8. 2005..This result suggests that other factors can modify clinical features of the patients with glycosylation defects of alpha-DG...
Mutation associated with an autosomal dominant cone-rod dystrophy CORD7 modifies RIM1-mediated modulation of voltage-dependent Ca2+ channelsTakafumi Miki
Department of Synthetic Chemistry and Biological Chemistry, Graduate School of Engineering, Kyoto University, Kyoto, Japan
Channels (Austin) 1:144-7. 2007..1 and L-type Ca(v)1.4 channels. Thus, our data can raise an interesting possibility that CORD7 phenotypes including retinal deficits and enhanced cognition are at least partly due to altered regulation of presynaptic VDCC currents...
Alpha6beta4 integrin and dystroglycan cooperate to stabilize the myelin sheathAlessandro Nodari
Department of Biological and Technological Research, San Raffaele Scientific Institute, 20132 Milan, Italy
J Neurosci 28:6714-9. 2008..These data indicate that, similar to its role in skin, alpha6beta4 integrin confers stability to myelin in peripheral nerves...
Targeting Schwann cells by nonlytic arenaviral infection selectively inhibits myelinationAnura Rambukkana
Laboratory of Bacterial Pathogenesis and Immunology, The Rockefeller University, New York, NY10021, USA
Proc Natl Acad Sci U S A 100:16071-6. 2003....
Alpha-dystroglycan can mediate arenavirus infection in the absence of beta-dystroglycanStefan Kunz
The Scripps Research Institute, Department of Neuropharmacology, 10550 N Torrey Pines Road, La Jolla, CA 92037, USA
Virology 316:213-20. 2003....
Phenotypic heterogeneity in the stargazin allelic seriesVerity A Letts
The Jackson Laboratory, 600 Main Street, Bar Harbor, Maine 04609, USA
Mamm Genome 14:506-13. 2003....
Modified cardiovascular L-type channels in mice lacking the voltage-dependent Ca2+ channel beta3 subunitManabu Murakami
Department of Pharmacology, Akita University School of Medicine, Akita 010 8543, Japan
J Biol Chem 278:43261-7. 2003....
Cell therapy of alpha-sarcoglycan null dystrophic mice through intra-arterial delivery of mesoangioblastsMaurilio Sampaolesi
Stem Cell Research Institute, H. S. Raffaele, Via Olgettina 58, 20132 Milan, Italy
Science 301:487-92. 2003..The success of this protocol was mainly due to widespread distribution of donor stem cells through the capillary network, a distinct advantage of this strategy over previous approaches...
Opposing roles of integrin alpha6Abeta1 and dystroglycan in laminin-mediated extracellular signal-regulated kinase activationMaria Ferletta
Department of Cell and Molecular Biology, Lund University, Sweden
Mol Biol Cell 14:2088-103. 2003..We conclude that laminin-1 and -10/11 share the ability to induce ERK activation, that this is regulated by integrin alpha6Abeta1, and suggest a novel role for dystroglycan-binding laminin domains as suppressors of this activation...
Dystroglycan is selectively associated with inhibitory GABAergic synapses but is dispensable for their differentiationSabine Levi
Washington University, Department of Anatomy and Neurobiology, St Louis, Missouri 63110, USA
J Neurosci 22:4274-85. 2002..Thus the DGC is not essential for GABAergic synaptogenesis but is likely to function in modulating inhibitory synapses or conferring specialized properties on a subset of them...
Gamma 1 subunit interactions within the skeletal muscle L-type voltage-gated calcium channelsJyothi Arikkath
Howard Hughes Medical Institute, Department of Physiology, University of Iowa, Iowa City 52242, USA
J Biol Chem 278:1212-9. 2003..1. Because subunit interactions are conserved, these studies have broad implications for gamma heterogeneity, function and subunit association with voltage-gated calcium channels...
Localization of alpha-dystroglycan on the podocyte: from top to toeNils P J Vogtländer
Division of Nephrology 545, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands
J Histochem Cytochem 53:1345-53. 2005....
Proteolytic enzymes and altered glycosylation modulate dystroglycan function in carcinoma cellsJarnail Singh
California Pacific Medical Center Research Institute, San Francisco, California 94115, USA
Cancer Res 64:6152-9. 2004....
Research Grants
- Therapeutic Potentential of Epsilon-Sarcoglycan in LGMD Type 2DKevin Campbell; Fiscal Year: 2007..on an endogenous protein like epsilon-sarcoglycan will bypass any acquired therapeutic immune response, and provides a platform for new targets for therapy and drug treatments aimed at up-regulating epsilon-sarcoglycan ..
- Muscular Dystrophy Cooperative Research CenterKevin Campbell; Fiscal Year: 2007....
- Epsilon-sarcoglycan in LGMD Type 2DKevin Campbell; Fiscal Year: 2009....
