Identification of a post‐translational modification with ribitol‐phosphate and its defect in muscular dystrophy: Roles of ISPD, fukutin, and FKRP in α‐dystroglycan glycosylation
暂无分享,去创建一个
Yoshiki Yamaguchi | Michiko Tajiri | Tatsushi Toda | Tamao Endo | M. Tajiri | Y. Wada | Y. Yamaguchi | H. Kawakami | M. Mizuno | T. Toda | T. Endo | Yasuro Shinohara | Motoi Kanagawa | Kazuhiro Kobayashi | Hiroshi Manya | Atsushi Kuga | Keiko Akasaka-Manya | Jun-Ichi Furukawa | Mamoru Mizuno | Hiroko Kawakami | Yoshinao Wada | M. Kanagawa | Kazuhiro Kobayashi | H. Manya | J. Furukawa | Y. Shinohara | A. Kuga | K. Akasaka-Manya
[1] F. Negm,et al. Partial Purification and Characterization of d-Ribose-5-phosphate Reductase from Adonis vernalis L. Leaves. , 1985, Plant physiology.
[2] O. Ibraghimov-Beskrovnaya,et al. Primary structure of dystrophin-associated glycoproteins linking dystrophin to the extracellular matrix , 1992, Nature.
[3] I. Kanazawa,et al. Structures of Sialylated O-Linked Oligosaccharides of Bovine Peripheral Nerve α-Dystroglycan , 1997, The Journal of Biological Chemistry.
[4] I. Kanazawa,et al. Structures of sialylated O-linked oligosaccharides of bovine peripheral nerve alpha-dystroglycan. The role of a novel O-mannosyl-type oligosaccharide in the binding of alpha-dystroglycan with laminin. , 1997, The Journal of biological chemistry.
[5] I. Kanazawa,et al. An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy , 1998, Nature.
[6] Shun–ichi Kobayashi. Tokyo campus rising , 1998, Nature.
[7] K. Campbell,et al. Identification of alpha-dystroglycan as a receptor for lymphocytic choriomeningitis virus and Lassa fever virus. , 1998, Science.
[8] S. Munro,et al. Activity of the yeast MNN1 alpha-1,3-mannosyltransferase requires a motif conserved in many other families of glycosyltransferases. , 1998, Proceedings of the National Academy of Sciences of the United States of America.
[9] E. Koonin,et al. The fukutin protein family – predicted enzymes modifying cell-surface molecules , 1999, Current Biology.
[10] Susan C. Brown,et al. Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C. , 2001, Human molecular genetics.
[11] Susan C. Brown,et al. Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan. , 2001, American journal of human genetics.
[12] M. Mizuno,et al. Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1. , 2001, Developmental cell.
[13] K. Campbell,et al. Post-translational disruption of dystroglycan–ligand interactions in congenital muscular dystrophies , 2002, Nature.
[14] J. Mendell,et al. Disruption of Dag1 in Differentiated Skeletal Muscle Reveals a Role for Dystroglycan in Muscle Regeneration , 2002, Cell.
[15] Susan C. Brown,et al. Functional requirements for fukutin-related protein in the Golgi apparatus. , 2002, Human molecular genetics.
[16] K. Campbell,et al. Deletion of brain dystroglycan recapitulates aspects of congenital muscular dystrophy , 2002, Nature.
[17] R. U. Margolis,et al. Demonstration of mammalian protein O-mannosyltransferase activity: coexpression of POMT1 and POMT2 required for enzymatic activity. , 2004, Proceedings of the National Academy of Sciences of the United States of America.
[18] K. Campbell,et al. Molecular Recognition by LARGE Is Essential for Expression of Functional Dystroglycan , 2004, Cell.
[19] K. Campbell,et al. Proteolytic Enzymes and Altered Glycosylation Modulate Dystroglycan Function in Carcinoma Cells , 2004, Cancer Research.
[20] H. Otani,et al. Basement membrane fragility underlies embryonic lethality in fukutin-null mice , 2005, Neurobiology of Disease.
[21] K. Campbell,et al. Congenital muscular dystrophy with glycosylation defects of alpha-dystroglycan in Japan. , 2005, Neuromuscular disorders : NMD.
[22] I. Nonaka,et al. Congenital muscular dystrophy with glycosylation defects of α-dystroglycan in Japan , 2005, Neuromuscular Disorders.
[23] R. Carlier,et al. Brain MRI abnormalities in muscular dystrophy due to FKRP mutations , 2006, Brain and Development.
[24] F. Muntoni,et al. Reduced expression of fukutin related protein in mice results in a model for fukutin related protein associated muscular dystrophies. , 2008, Brain : a journal of neurology.
[25] J. Marles-Wright,et al. Synthesis of Cdp-activated Ribitol For , 2008 .
[26] Leszek Rychlewski,et al. Comprehensive classification of nucleotidyltransferase fold proteins: identification of novel families and their representatives in human , 2009, Nucleic acids research.
[27] M. Fukuda,et al. Tumor suppressor function of laminin-binding α-dystroglycan requires a distinct β3-N-acetylglucosaminyltransferase , 2009, Proceedings of the National Academy of Sciences.
[28] Liping Yu,et al. O-Mannosyl Phosphorylation of Alpha-Dystroglycan Is Required for Laminin Binding , 2010, Science.
[29] S. Dimauro,et al. Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy , 2011, Nature.
[30] F. Muntoni,et al. A dystroglycan mutation associated with limb-girdle muscular dystrophy. , 2011, The New England journal of medicine.
[31] L. Wells,et al. Synthetic, structural, and biosynthetic studies of an unusual phospho-glycopeptide derived from α-dystroglycan. , 2011, Journal of the American Chemical Society.
[32] K. Campbell,et al. Like-acetylglucosaminyltransferase (LARGE)-dependent modification of dystroglycan at Thr-317/319 is required for laminin binding and arenavirus infection , 2011, Proceedings of the National Academy of Sciences.
[33] Liping Yu,et al. Dystroglycan Function Requires Xylosyl- and Glucuronyltransferase Activities of LARGE , 2012, Science.
[34] Christian Gilissen,et al. Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan , 2012, Nature Genetics.
[35] T. Toda,et al. Mislocalization of Fukutin Protein by Disease-causing Missense Mutations Can Be Rescued with Treatments Directed at Folding Amelioration* , 2012, The Journal of Biological Chemistry.
[36] M. Tajiri,et al. Absence of Post-phosphoryl Modification in Dystroglycanopathy Mouse Models and Wild-type Tissues Expressing Non-laminin Binding Form of α-Dystroglycan* , 2012, The Journal of Biological Chemistry.
[37] Francesco Muntoni,et al. ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome , 2012, Nature Genetics.
[38] M. Hurles,et al. ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies , 2013, Brain : a journal of neurology.
[39] S. Walker,et al. Wall teichoic acids of gram-positive bacteria. , 2013, Annual review of microbiology.
[40] K. Naruse,et al. Impaired viability of muscle precursor cells in muscular dystrophy with glycosylation defects and amelioration of its severe phenotype by limited gene expression. , 2013, Human molecular genetics.
[41] S. Nelson,et al. SGK196 Is a Glycosylation-Specific O-Mannose Kinase Required for Dystroglycan Function , 2013, Science.
[42] M. Goddeeris,et al. LARGE glycans on dystroglycan function as a tunable matrix scaffold to prevent dystrophy , 2013, Nature.
[43] J. Carette,et al. Deciphering the Glycosylome of Dystroglycanopathies Using Haploid Screens for Lassa Virus Entry , 2013, Science.
[44] Liping Yu,et al. The glucuronyltransferase B4GAT1 is required for initiation of LARGE-mediated α-dystroglycan functional glycosylation , 2014, eLife.
[45] Jeremy L. Praissman,et al. B4GAT1 is the priming enzyme for the LARGE-dependent functional glycosylation of α-dystroglycan , 2014, eLife.
[46] K. Campbell,et al. Matriglycan: a novel polysaccharide that links dystroglycan to the basement membrane , 2015, Glycobiology.
[47] Patrick Breheny,et al. Downregulation of dystroglycan glycosyltransferases LARGE2 and ISPD associate with increased mortality in clear cell renal cell carcinoma , 2015, Molecular Cancer.