Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect

American Journal of Human Genetics

Volumn 88, Issue 2, 2011, Pages 162-172

  Senderek, Jan ^a,b   Müller, Juliane S ^c   Dusl, Marina ^d   Strom, Tim M ^e   Guergueltcheva, Velina ^f   Diepolder, Irmgard ^b   Laval, Steven H ^c   Maxwell, Susan ^g   Cossins, Judy ^g   Krause, Sabine ^d   Muelas, Nuria ^h   Vilchez, Juan J ^h   Colomer, Jaume ⁱ   Mallebrera, Cecilia Jimenez ⁱ   Nascimento, Andres ⁱ   Nafissi, Shahriar ^j   Kariminejad, Ariana ^k   Nilipour, Yalda ^l   Bozorgmehr, Bita ^k   Najmabadi, Hossein ^k   Rodolico, Carmelo ^m   Sieb, Jörn P ⁿ   Steinlein, Ortrud K ^o   Schlotter, Beate ^d   Schoser, Benedikt ^d   Kirschner, Janbernd ^p   Herrmann, Ralf ^q   Voit, Thomas ^r   Oldfors, Anders ^s   Lindbergh, Christopher ^t   Urtizberea, Andoni ^u   Von Der Hagen, Maja ^v   Hübner, Angela ^v   Palace, Jacqueline ^w   Bushby, Kate ^c   Straub, Volker ^c   Beeson, David ^g   Abicht, Angela ^d   Lochmüller, Hanns ^c   more..

^a ETH ZURICH   (Switzerland)

^b RWTH AACHEN UNIVERSITY   (Germany)

^c NEWCASTLE UNIVERSITY   (United Kingdom)

^d LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^e INSTITUTE OF EPIDEMIOLOGY   (Germany)

^f UNIVERSITY HOSPITAL ALEXANDROVSKA   (Bulgaria)

^g UNIVERSITY OF OXFORD   (United Kingdom)

^h HOSPITAL UNIVERSITARIO LA FE   (Spain)

ⁱ HOSPITAL SANT JOAN DE DÉU   (Spain)

^j TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^k Kariminejad Najmabadi Pathology and Genetics Center   (Iran)

^l Toos Hospital   (Iran)

^m UNIVERSITY OF MESSINA   (Italy)

ⁿ Hanse Klinikum   (Germany)

^o UNIVERSITY OF MUNICH   (Germany)

^p UNIVERSITY OF FREIBURG   (Germany)

^q UNIVERSITY HOSPITAL ESSEN   (Germany)

^r CNRS   (France)

^s UNIVERSITY OF GOTHENBURG   (Sweden)

^t SAHLGRENSKA UNIVERSITY HOSPITAL   (Sweden)

^u Hôpital Marin   (France)

^v DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

^w JOHN RADCLIFFE HOSPITAL   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

GLUTAMINE FRUCTOSE 6 PHOSPHATE AMINOTRANSFERASE; GLUTAMINE FRUCTOSE 6 PHOSPHATE TRANSAMINASE 1; HEXOSAMINE; UNCLASSIFIED DRUG;

ALLELE; ANIMAL CELL; ARTICLE; CARBOHYDRATE SYNTHESIS; CONGENITAL MYASTHENIC SYNDROME; CONTROLLED STUDY; EMBRYO; GENE MUTATION; GENETIC LINKAGE; HUMAN; HUMAN CELL; MUSCLE CELL; MUTATION; NEUROMUSCULAR TRANSMISSION; NONHUMAN; PRIORITY JOURNAL; ZEBRA FISH;

ANIMALS; BLOTTING, WESTERN; CASE-CONTROL STUDIES; CELLS, CULTURED; EMBRYO, NONMAMMALIAN; FEMALE; FLUORESCENT ANTIBODY TECHNIQUE; GENE EXPRESSION REGULATION, DEVELOPMENTAL; GENETIC LINKAGE; GLUTAMINE-FRUCTOSE-6-PHOSPHATE TRANSAMINASE (ISOMERIZING); GLYCOSYLATION; HEXOSAMINES; HUMANS; IMMUNOENZYME TECHNIQUES; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; MUTATION; MYASTHENIC SYNDROMES, CONGENITAL; NEUROMUSCULAR JUNCTION; PEDIGREE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; SIGNAL TRANSDUCTION; SYNAPTIC TRANSMISSION; ZEBRAFISH; ZEBRAFISH PROTEINS;

DANIO RERIO;

EID: 79851494905     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2011.01.008     Document Type: Article

References (42)

1. E.R. Kandel, J.H. Schwartz, and T.M. Jessell Principles of Neural Science 2000 McGraw-Hill New York
2. J. Newsom-Davis The emerging diversity of neuromuscular junction disorders Acta Myol. 26 2007 5 10 (Pubitemid 47400719)
3. A.G. Engel, X.M. Shen, D. Selcen, and S.M. Sine What have we learned from the congenital myasthenic syndromes J. Mol. Neurosci. 40 2010 143 153
4. H. Wu, W.C. Xiong, and L. Mei To build a synapse: signaling pathways in neuromuscular junction assembly Development 137 2010 1017 1033
5. M.P. McQuillen Familial limb-girdle myasthenia Brain 89 1966 121 132
6. T.R. Johns, F.E. Dreifuss, W.J. Crowley, and A.V. Fakadej Familial non-progressive myasthenic myopathy Neurology 16 1966 307
7. R.S. Haltiwanger, and J.B. Lowe Role of glycosylation in development Annu. Rev. Biochem. 73 2004 491 537 (Pubitemid 39050378)
8. P.T. Martin Glycobiology of the synapse Glycobiology 12 2002 1R 7R (Pubitemid 34218313)
9. J.P. Sieb, K. Tolksdorf, R. Dengler, and F. Jerusalem An autosomal-recessive congenital myasthenic syndrome with tubular aggregates in a Libyan family Neuromuscul. Disord. 6 1996 115 119 (Pubitemid 26073993)
10. C. Rodolico, A. Toscano, M. Autunno, S. Messina, C. Nicolosi, M. Aguennouz, M. Laur, P. Girlanda, C. Messina, and G. Vita Limb-girdle myasthenia: clinical, electrophysiological and morphological features in familial and autoimmune cases Neuromuscul. Disord. 12 2002 964 969 (Pubitemid 35408678)
11. M. von der Hagen, J. Schallner, A.M. Kaindl, K. Koehler, P. Mitzscherling, A. Abicht, U. Grieben, R. Korinthenberg, W. Kress, and A. von Moers Facing the genetic heterogeneity in neuromuscular disorders: linkage analysis as an economic diagnostic approach towards the molecular diagnosis Neuromuscul. Disord. 16 2006 4 13 (Pubitemid 43089620)
12. E.S. Lander, and D. Botstein Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children Science 236 1987 1567 1570 (Pubitemid 17087948)
13. G.R. Abecasis, S.S. Cherny, W.O. Cookson, and L.R. Cardon Merlin - rapid analysis of dense genetic maps using sparse gene flow trees Nat. Genet. 30 2002 97 101
14. L. Kruglyak, M.J. Daly, M.P. Reeve-Daly, and E.S. Lander Parametric and nonparametric linkage analysis: a unified multipoint approach Am. J. Hum. Genet. 58 1996 1347 1363 (Pubitemid 26153846)
15. T.H. Lindner, and K. Hoffmann easyLINKAGE: a PERL script for easy and automated two-/multi-point linkage analyses Bioinformatics 21 2005 405 407 (Pubitemid 40246617)
16. J.E. DeHaven, K.A. Robinson, B.A. Nelson, and M.G. Buse A novel variant of glutamine: fructose-6-phosphate amidotransferase-1 (GFAT1) mRNA is selectively expressed in striated muscle Diabetes 50 2001 2419 2424 (Pubitemid 33642756)
17. S.N. Ho, H.D. Hunt, R.M. Horton, J.K. Pullen, and L.R. Pease Site-directed mutagenesis by overlap extension using the polymerase chain reaction Gene 77 1989 51 59 (Pubitemid 19125653)
18. H. Lochmüller, T. Johns, and E.A. Shoubridge Expression of the E6 and E7 genes of human papillomavirus (HPV16) extends the life span of human myoblasts Exp. Cell Res. 248 1999 186 193 (Pubitemid 29393941)
19. A. Vincent, S.G. Cull-Candy, J. Newsom-Davis, A. Trautmann, P.C. Molenaar, and R.L. Polak Congenital myasthenia: end-plate acetylcholine receptors and electrophysiology in five cases Muscle Nerve 4 1981 306 318 (Pubitemid 11073072)
20. S. Eguchi, N. Oshiro, T. Miyamoto, K. Yoshino, S. Okamoto, T. Ono, U. Kikkawa, and K. Yonezawa AMP-activated protein kinase phosphorylates glutamine : fructose-6-phosphate amidotransferase 1 at Ser243 to modulate its enzymatic activity Genes Cells 14 2009 179 189
21. F. Ye, H. Maegawa, K. Morino, A. Kashiwagi, R. Kikkawa, M. Xie, and Z. Shen A simple and sensitive method for glutamine:fructose-6-phosphate amidotransferase assay J. Biochem. Biophys. Methods 59 2004 201 208 (Pubitemid 38681043)
22. C.B. Kimmel, W.W. Ballard, S.R. Kimmel, B. Ullmann, and T.F. Schilling Stages of embryonic development of the zebrafish Dev. Dyn. 203 1995 253 310
23. M. Westerfield The zebrafish book. A guide for the laboratory use of zebrafish (Danio rerio) 2000 University of Oregon Press Eugene
24. J.S. Müller, C.D. Jepson, S.H. Laval, K. Bushby, V. Straub, and H. Lochmüller Dok-7 promotes slow muscle integrity as well as neuromuscular junction formation in a zebrafish model of congenital myasthenic syndromes Hum. Mol. Genet. 19 2010 1726 1740
25. S. Mouilleron, M.A. Badet-Denisot, and B. Golinelli-Pimpaneau Glutamine binding opens the ammonia channel and activates glucosamine-6P synthase J. Biol. Chem. 281 2006 4404 4412 (Pubitemid 43847872)
26. Y. Nakaishi, M. Bando, H. Shimizu, K. Watanabe, F. Goto, H. Tsuge, K. Kondo, and M. Komatsu Structural analysis of human glutamine:fructose-6- phosphate amidotransferase, a key regulator in type 2 diabetes FEBS Lett. 583 2009 163 167
27. L. Wells, K. Vosseller, and G.W. Hart Glycosylation of nucleocytoplasmic proteins: signal transduction and O-GlcNAc Science 291 2001 2376 2378 (Pubitemid 32231793)
28. G.D. Holt, C.M. Snow, A. Senior, R.S. Haltiwanger, L. Gerace, and G.W. Hart Nuclear pore complex glycoproteins contain cytoplasmically disposed O-linked N-acetylglucosamine J. Cell Biol. 104 1987 1157 1164 (Pubitemid 17084473)
29. T. Oki, K. Yamazaki, J. Kuromitsu, M. Okada, and I. Tanaka cDNA cloning and mapping of a novel subtype of glutamine:fructose-6-phosphate amidotransferase (GFAT2) in human and mouse Genomics 57 1999 227 234 (Pubitemid 29205498)
30. J.M. Chen, C. Férec, and D.N. Cooper A systematic analysis of disease-associated variants in the 3′ regulatory regions of human protein-coding genes II: the importance of mRNA secondary structure in assessing the functionality of 3′ UTR variants Hum. Genet. 120 2006 301 333 (Pubitemid 44400467)
31. K. Ohno, H.L. Wang, M. Milone, N. Bren, J.M. Brengman, S. Nakano, P. Quiram, J.N. Pruitt, S.M. Sine, and A.G. Engel Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor epsilon subunit Neuron 17 1996 157 170 (Pubitemid 26251600)
32. J. Prives, and D. Bar-Sagi Effect of tunicamycin, an inhibitor of protein glycosylation, on the biological properties of acetylcholine receptor in cultured muscle cells J. Biol. Chem. 258 1983 1775 1780 (Pubitemid 13101381)
33. S.H. Devoto, E. Melanon, J.S. Eisen, and M. Westerfield Identification of separate slow and fast muscle precursor cells in vivo, prior to somite formation Development 122 1996 3371 3380 (Pubitemid 26395980)
34. F. Ono, S. Higashijima, A. Shcherbatko, J.R. Fetcho, and P. Brehm Paralytic zebrafish lacking acetylcholine receptors fail to localize rapsyn clusters to the synapse J. Neurosci. 21 2001 5439 5448 (Pubitemid 32692142)
35. F. Ono, A. Shcherbatko, S. Higashijima, G. Mandel, and P. Brehm The Zebrafish motility mutant twitch once reveals new roles for rapsyn in synaptic function J. Neurosci. 22 2002 6491 6498 (Pubitemid 35386405)
36. L. Jing, L.R. Gordon, E. Shtibin, and M. Granato Temporal and spatial requirements of unplugged/MuSK function during zebrafish neuromuscular development PLoS ONE 5 2010 e8843
37. J.R. Sanes, and J.W. Lichtman Induction, assembly, maturation and maintenance of a postsynaptic apparatus Nat. Rev. Neurosci. 2 2001 791 805 (Pubitemid 33674061)
38. G.W. Hart, M.P. Housley, and C. Slawson Cycling of O-linked beta-N-acetylglucosamine on nucleocytoplasmic proteins Nature 446 2007 1017 1022 (Pubitemid 46676063)
39. D.C. Love, M.W. Krause, and J.A. Hanover O-GlcNAc cycling: emerging roles in development and epigenetics Semin. Cell Dev. Biol. 21 2010 646 654
40. R. Grantham Amino acid difference formula to help explain protein evolution Science 185 1974 862 864
41. W.H. Li, C.I. Wu, and C.C. Luo Nonrandomness of point mutation as reflected in nucleotide substitutions in pseudogenes and its evolutionary implications J. Mol. Evol. 21 1984 58 71 (Pubitemid 15172244)
42. P.C. Ng, and S. Henikoff Predicting deleterious amino acid substitutions Genome Res. 11 2001 863 874 (Pubitemid 32447869)