| Year |
Citation |
Score |
| 2020 |
Wang L, Yang Y, Breton C, Bell P, Li M, Zhang J, Che Y, Saveliev A, He Z, White J, Latshaw C, Xu C, McMenamin D, Yu H, Morizono H, et al. A mutation-independent CRISPR-Cas9-mediated gene targeting approach to treat a murine model of ornithine transcarbamylase deficiency. Science Advances. 6: eaax5701. PMID 32095520 DOI: 10.1126/Sciadv.Aax5701 |
0.376 |
|
| 2017 |
Jang YJ, LaBella AL, Feeney TP, Braverman N, Tuchman M, Morizono H, Mew NA, Caldovic L. Disease-causing mutations in the promoter and enhancer of the Ornithine Transcarbamylase gene. Human Mutation. PMID 29282796 DOI: 10.1002/Humu.23394 |
0.359 |
|
| 2017 |
Wang L, Bell P, Morizono H, He Z, Pumbo E, Yu H, White J, Batshaw ML, Wilson JM. AAV gene therapy corrects OTC deficiency and prevents liver fibrosis in aged OTC-knock out heterozygous mice. Molecular Genetics and Metabolism. PMID 28283349 DOI: 10.1016/J.Ymgme.2017.02.011 |
0.329 |
|
| 2016 |
Haskins N, Mumo A, Brown PH, Tuchman M, Morizono H, Caldovic L. Effect of arginine on oligomerization and stability of N-acetylglutamate synthase. Scientific Reports. 6: 38711. PMID 27934952 DOI: 10.1038/Srep38711 |
0.308 |
|
| 2016 |
Yang Y, Wang L, Bell P, McMenamin D, He Z, White J, Yu H, Xu C, Morizono H, Musunuru K, Batshaw ML, Wilson JM. A dual AAV system enables the Cas9-mediated correction of a metabolic liver disease in newborn mice. Nature Biotechnology. PMID 26829317 DOI: 10.1038/Nbt.3469 |
0.357 |
|
| 2016 |
Wang L, Yang Y, Bell P, McMenamin D, He Z, White J, Yu H, Xu C, Morizono H, Musunuru K, Batshaw ML, Wilson JM. 481. CRISPR/Cas9-Mediated In Vivo Genome Editing to Correct the OTC spfash Mutation in Newborn Mice Molecular Therapy. 24: S190-S191. DOI: 10.1016/S1525-0016(16)33290-7 |
0.396 |
|
| 2015 |
Caldovic L, Abdikarim I, Narain S, Tuchman M, Morizono H. Genotype-Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation Update. Journal of Genetics and Genomics = Yi Chuan Xue Bao. 42: 181-94. PMID 26059767 DOI: 10.1016/J.Jgg.2015.04.003 |
0.366 |
|
| 2015 |
Wang L, Bell P, Morizono H, He Z, Pumbo E, White J, Batshaw ML, Wilson JM. 174. Liver Fibrosis in Aged OTC-KO Heterozygotes and Successful Correction by AAV8-Mediated Gene Therapy Molecular Therapy. 23: S69. DOI: 10.1016/S1525-0016(16)33779-0 |
0.315 |
|
| 2012 |
Senkevitch E, Cabrera-Luque J, Morizono H, Caldovic L, Tuchman M. A novel biochemically salvageable animal model of hyperammonemia devoid of N-acetylglutamate synthase. Molecular Genetics and Metabolism. 106: 160-8. PMID 22503289 DOI: 10.1016/J.Ymgme.2012.03.004 |
0.326 |
|
| 2012 |
Wang L, Morizono H, Lin J, Bell P, Jones D, McMenamin D, Yu H, Batshaw ML, Wilson JM. Preclinical evaluation of a clinical candidate AAV8 vector for ornithine transcarbamylase (OTC) deficiency reveals functional enzyme from each persisting vector genome. Molecular Genetics and Metabolism. 105: 203-11. PMID 22133298 DOI: 10.1016/J.Ymgme.2011.10.020 |
0.336 |
|
| 2012 |
Wang L, Wang H, Morizono H, Bell P, Jones D, Lin J, McMenamin D, Yu H, Batshaw ML, Wilson JM. Sustained correction of OTC deficiency in spf( ash) mice using optimized self-complementary AAV2/8 vectors. Gene Therapy. 19: 404-10. PMID 21850052 DOI: 10.1038/Gt.2011.111 |
0.326 |
|
| 2011 |
Prust M, Wang J, Morizono H, Messing A, Brenner M, Gordon E, Hartka T, Sokohl A, Schiffmann R, Gordish-Dressman H, Albin R, Amartino H, Brockman K, Dinopoulos A, Dotti MT, et al. GFAP mutations, age at onset, and clinical subtypes in Alexander disease. Neurology. 77: 1287-94. PMID 21917775 DOI: 10.1212/Wnl.0B013E3182309F72 |
0.321 |
|
| 2011 |
Caldovic L, Haskins N, Mumo A, Tuchman M, Morizono H. Evolution of the Effect of Arginine on Thermal Stability and Oligomerization of N-Acetylglutamate Synthase Biophysical Journal. 100. DOI: 10.1016/J.Bpj.2010.12.500 |
0.332 |
|
| 2010 |
Caldovic L, Ah Mew N, Shi D, Morizono H, Yudkoff M, Tuchman M. N-acetylglutamate synthase: structure, function and defects. Molecular Genetics and Metabolism. 100: S13-9. PMID 20303810 DOI: 10.1016/J.Ymgme.2010.02.018 |
0.407 |
|
| 2010 |
Wang L, Calcedo R, Wang H, Bell P, Grant R, Vandenberghe LH, Sanmiguel J, Morizono H, Batshaw ML, Wilson JM. The pleiotropic effects of natural AAV infections on liver-directed gene transfer in macaques. Molecular Therapy : the Journal of the American Society of Gene Therapy. 18: 126-34. PMID 19888196 DOI: 10.1038/Mt.2009.245 |
0.315 |
|
| 2010 |
Wang L, Wang H, Bell P, McCarter RJ, He J, Calcedo R, Vandenberghe LH, Morizono H, Batshaw ML, Wilson JM. Systematic evaluation of AAV vectors for liver directed gene transfer in murine models. Molecular Therapy : the Journal of the American Society of Gene Therapy. 18: 118-25. PMID 19861950 DOI: 10.1038/Mt.2009.246 |
0.309 |
|
| 2009 |
Min L, Jin Z, Caldovic L, Morizono H, Allewell NM, Tuchman M, Shi D. Mechanism of allosteric inhibition of N-acetyl-L-glutamate synthase by L-arginine. The Journal of Biological Chemistry. 284: 4873-80. PMID 19095660 DOI: 10.1074/Jbc.M805348200 |
0.344 |
|
| 2008 |
Haskins N, Panglao M, Qu Q, Majumdar H, Cabrera-Luque J, Morizono H, Tuchman M, Caldovic L. Inversion of allosteric effect of arginine on N-acetylglutamate synthase, a molecular marker for evolution of tetrapods. Bmc Biochemistry. 9: 24. PMID 18801197 DOI: 10.1186/1471-2091-9-24 |
0.367 |
|
| 2008 |
Maletkovic J, Schiffmann R, Gorospe JR, Gordon ES, Mintz M, Hoffman EP, Alper G, Lynch DR, Singhal BS, Harding C, Amartino H, Brown CM, Chan A, Renaud D, Geraghty M, ... ... Morizono H, et al. Genetic and clinical heterogeneity in eIF2B-related disorder. Journal of Child Neurology. 23: 205-15. PMID 18263758 DOI: 10.1177/0883073807308705 |
0.339 |
|
| 2008 |
Shi D, Sagar V, Jin Z, Yu X, Caldovic L, Morizono H, Allewell NM, Tuchman M. The crystal structure of N-acetyl-L-glutamate synthase from Neisseria gonorrhoeae provides insights into mechanisms of catalysis and regulation. The Journal of Biological Chemistry. 283: 7176-84. PMID 18184660 DOI: 10.1074/Jbc.M707678200 |
0.342 |
|
| 2007 |
Shi D, Yu X, Cabrera-Luque J, Chen TY, Roth L, Morizono H, Allewell NM, Tuchman M. A single mutation in the active site swaps the substrate specificity of N-acetyl-L-ornithine transcarbamylase and N-succinyl-L-ornithine transcarbamylase. Protein Science : a Publication of the Protein Society. 16: 1689-99. PMID 17600144 DOI: 10.1110/Ps.072919907 |
0.399 |
|
| 2007 |
Qu Q, Morizono H, Shi D, Tuchman M, Caldovic L. A novel bifunctional N-acetylglutamate synthase-kinase from Xanthomonas campestris that is closely related to mammalian N-acetylglutamate synthase. Bmc Biochemistry. 8: 4. PMID 17425781 DOI: 10.1186/1471-2091-8-4 |
0.376 |
|
| 2007 |
Caldovic L, Morizono H, Tuchman M. Mutations and polymorphisms in the human N-acetylglutamate synthase (NAGS) gene. Human Mutation. 28: 754-9. PMID 17421020 DOI: 10.1002/Humu.20518 |
0.383 |
|
| 2006 |
Shi D, Caldovic L, Jin Z, Yu X, Qu Q, Roth L, Morizono H, Hathout Y, Allewell NM, Tuchman M. Expression, crystallization and preliminary crystallographic studies of a novel bifunctional N-acetylglutamate synthase/kinase from Xanthomonas campestris homologous to vertebrate N-acetylglutamate synthase. Acta Crystallographica. Section F, Structural Biology and Crystallization Communications. 62: 1218-22. PMID 17142901 DOI: 10.1107/S1744309106044101 |
0.342 |
|
| 2006 |
Yamaguchi S, Brailey LL, Morizono H, Bale AE, Tuchman M. Mutations and polymorphisms in the human ornithine transcarbamylase (OTC) gene. Human Mutation. 27: 626-32. PMID 16786505 DOI: 10.1002/Humu.20339 |
0.362 |
|
| 2006 |
Shi D, Yu X, Roth L, Morizono H, Tuchman M, Allewell NM. Structures of N-acetylornithine transcarbamoylase from Xanthomonas campestris complexed with substrates and substrate analogs imply mechanisms for substrate binding and catalysis. Proteins. 64: 532-42. PMID 16741992 DOI: 10.1002/Prot.21013 |
0.33 |
|
| 2006 |
Shi D, Morizono H, Cabrera-Luque J, Yu X, Roth L, Malamy MH, Allewell NM, Tuchman M. Structure and catalytic mechanism of a novel N-succinyl-L-ornithine transcarbamylase in arginine biosynthesis of Bacteroides fragilis. The Journal of Biological Chemistry. 281: 20623-31. PMID 16704984 DOI: 10.1074/Jbc.M601229200 |
0.349 |
|
| 2006 |
Moscioni D, Morizono H, McCarter RJ, Stern A, Cabrera-Luque J, Hoang A, Sanmiguel J, Wu D, Bell P, Gao GP, Raper SE, Wilson JM, Batshaw ML. Long-term correction of ammonia metabolism and prolonged survival in ornithine transcarbamylase-deficient mice following liver-directed treatment with adeno-associated viral vectors. Molecular Therapy : the Journal of the American Society of Gene Therapy. 14: 25-33. PMID 16677864 DOI: 10.1016/J.Ymthe.2006.03.009 |
0.309 |
|
| 2006 |
Morizono H, Cabrera-Luque J, Shi D, Gallegos R, Yamaguchi S, Yu X, Allewell NM, Malamy MH, Tuchman M. Acetylornithine transcarbamylase: a novel enzyme in arginine biosynthesis. Journal of Bacteriology. 188: 2974-82. PMID 16585758 DOI: 10.1128/Jb.188.8.2974-2982.2006 |
0.379 |
|
| 2006 |
Caldovic L, Lopez GY, Haskins N, Panglao M, Shi D, Morizono H, Tuchman M. Biochemical properties of recombinant human and mouse N-acetylglutamate synthase. Molecular Genetics and Metabolism. 87: 226-32. PMID 16321554 DOI: 10.1016/J.Ymgme.2005.10.003 |
0.357 |
|
| 2005 |
Shi D, Yu X, Roth L, Morizono H, Hathout Y, Allewell NM, Tuchman M. Expression, purification, crystallization and preliminary X-ray crystallographic studies of a novel acetylcitrulline deacetylase from Xanthomonas campestris. Acta Crystallographica. Section F, Structural Biology and Crystallization Communications. 61: 676-9. PMID 16511126 DOI: 10.1107/S1744309105018051 |
0.322 |
|
| 2005 |
Morizono H, Woolston JE, Colombini M, Tuchman M. The use of yeast mitochondria to study the properties of wild-type and mutant human mitochondrial ornithine transporter. Molecular Genetics and Metabolism. 86: 431-40. PMID 16256388 DOI: 10.1016/J.Ymgme.2005.08.013 |
0.32 |
|
| 2005 |
Shi D, Morizono H, Yu X, Roth L, Caldovic L, Allewell NM, Malamy MH, Tuchman M. Crystal structure of N-acetylornithine transcarbamylase from Xanthomonas campestris: a novel enzyme in a new arginine biosynthetic pathway found in several eubacteria. The Journal of Biological Chemistry. 280: 14366-9. PMID 15731101 DOI: 10.1074/Jbc.C500005200 |
0.364 |
|
| 2005 |
Caldovic L, Morizono H, Panglao MG, Lopez GY, Shi D, Summar ML, Tuchman M. Late onset N-acetylglutamate synthase deficiency caused by hypomorphic alleles. Human Mutation. 25: 293-8. PMID 15714518 DOI: 10.1002/Humu.20146 |
0.421 |
|
| 2005 |
Shi D, Yu X, Roth L, Morizono H, Allewell NM, Tuchman M. Structures of a novel N-acetyl-L-ornithine transcarbamylase Acta Crystallographica Section A. 61: 190-190. DOI: 10.1107/S0108767305091920 |
0.31 |
|
| 2004 |
Morizono H, Caldovic L, Shi D, Tuchman M. Mammalian N-acetylglutamate synthase. Molecular Genetics and Metabolism. 81: S4-11. PMID 15050968 DOI: 10.1016/J.Ymgme.2003.10.017 |
0.436 |
|
| 2003 |
Caldovic L, Morizono H, Panglao MG, Cheng SF, Packman S, Tuchman M. Null mutations in the N-acetylglutamate synthase gene associated with acute neonatal disease and hyperammonemia. Human Genetics. 112: 364-8. PMID 12594532 DOI: 10.1007/S00439-003-0909-5 |
0.416 |
|
| 2002 |
Caldovic L, Morizono H, Gracia Panglao M, Gallegos R, Yu X, Shi D, Malamy MH, Allewell NM, Tuchman M. Cloning and expression of the human N-acetylglutamate synthase gene. Biochemical and Biophysical Research Communications. 299: 581-6. PMID 12459178 DOI: 10.1016/S0006-291X(02)02696-7 |
0.383 |
|
| 2002 |
Shi D, Gallegos R, DePonte J, Morizono H, Yu X, Allewell NM, Malamy M, Tuchman M. Crystal structure of a transcarbamylase-like protein from the anaerobic bacterium Bacteroides fragilis at 2.0 A resolution. Journal of Molecular Biology. 320: 899-908. PMID 12095263 DOI: 10.1016/S0022-2836(02)00539-9 |
0.315 |
|
| 2002 |
Caldovic L, Morizono H, Yu X, Thompson M, Shi D, Gallegos R, Allewell NM, Malamy MH, Tuchman M. Identification, cloning and expression of the mouse N-acetylglutamate synthase gene. The Biochemical Journal. 364: 825-31. PMID 12049647 DOI: 10.1042/Bj20020161 |
0.413 |
|
| 2001 |
Mavinakere M, Morizono H, Shi D, Allewell NM, Tuchman M. The clinically variable R40H mutant ornithine carbamoyltransferase shows cytosolic degradation of the precursor protein in CHO cells Journal of Inherited Metabolic Disease. 24: 614-622. PMID 11768581 DOI: 10.1023/A:1012726207870 |
0.382 |
|
| 2001 |
Shi D, Morizono H, Yu X, Tong L, Allewell NM, Tuchman M. Human ornithine transcarbamylase: Crystallographic insights into substrate recognition and conformational changes Biochemical Journal. 354: 501-509. PMID 11237854 DOI: 10.1042/0264-6021:3540501 |
0.314 |
|
| 2000 |
Augustin L, Mavinakere M, Morizono H, Tuchman M. Expression of wild-type and mutant human ornithine transcarbamylase genes in Chinese hamster ovary cells and lack of dominant negative effect of R141Q and R40H mutants Pediatric Research. 48: 842-846. PMID 11102556 DOI: 10.1203/00006450-200012000-00023 |
0.369 |
|
| 2000 |
Aronovich EL, Carmichael KP, Morizono H, Koutlas IG, Deanching M, Hoganson G, Fischer A, Whitley CB. Canine heparan sulfate sulfamidase and the molecular pathology underlying Sanfilippo syndrome type A in Dachshunds. Genomics. 68: 80-4. PMID 10950929 DOI: 10.1006/Geno.2000.6275 |
0.326 |
|
| 2000 |
Shi D, Morizono H, Aoyagi M, Tuchman M, Allewell NM. Crystal structure of human ornithine transcarbamylase complexed with carbamoyl phosphate and L-norvaline at 1.9 A resolution. Proteins. 39: 271-277. PMID 10813810 DOI: 10.1002/(Sici)1097-0134(20000601)39:4<271::Aid-Prot10>3.0.Co;2-E |
0.317 |
|
| 1998 |
Shi D, Morizono H, Ha Y, Aoyagi M, Tuchman M, Allewell NM. 1.85-Å Resolution crystal structure of human ornithine transcarbamoylase complexed with N-phosphonacetyl-L-ornithine: Catalytic mechanism and correlation with inherited deficiency Journal of Biological Chemistry. 273: 34247-34254. PMID 9852088 DOI: 10.1074/Jbc.273.51.34247 |
0.393 |
|
| 1998 |
Tuchman M, Morizono H, Rajagopal BS, Plante RJ, Allewell NM. The biochemical and molecular spectrum of ornithine transcarbamylase deficiency Journal of Inherited Metabolic Disease. 21: 40-58. PMID 9686344 DOI: 10.1023/A:1005353407220 |
0.388 |
|
| 1997 |
Tuchman M, Morizono H, Rajagopal BS, Plante RJ, Allewell NM. Identification of 'private' mutations in patients with ornithine transcarbamylase deficiency Journal of Inherited Metabolic Disease. 20: 525-527. PMID 9266388 DOI: 10.1023/A:1005301513465 |
0.356 |
|
| 1997 |
Morizono H, Listrom CD, Rajagopal BS, Aoyagi M, McCann MT, Allewell NM, Tuchman M. 'Late onset' ornithine transcarbamylase deficiency: Function of three purified recombinant mutant enzymes Human Molecular Genetics. 6: 963-968. PMID 9175746 DOI: 10.1093/Hmg/6.6.963 |
0.39 |
|
| 1997 |
Morizono H, Tuchman M, Rajagopal BS, McCann MT, Listrom CD, Yuan X, Venugopal D, Barany G, Allewell NM. Expression, purification and kinetic characterization of wild-type human ornithine transcarbamylase and a recurrent mutant that produces 'late onset' hyperammonaemia. The Biochemical Journal. 322: 625-31. PMID 9065786 DOI: 10.1042/Bj3220625 |
0.42 |
|
| 1995 |
Tuchman M, Morizono H, Reish O, Yuan X, Allewell NM. The molecular basis of ornithine transcarbamylase deficiency: Modelling the human enzyme and the effects of mutations Journal of Medical Genetics. 32: 680-688. PMID 8544185 DOI: 10.1136/Jmg.32.9.680 |
0.411 |
|
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