-
1
-
-
7544241975
-
Molecular aetiology of primary hyperoxaluria type 1
-
Danpure CJ. Molecular aetiology of primary hyperoxaluria type 1. Nephron Exp Nephrol 2004;98:e39-44.
-
(2004)
Nephron Exp Nephrol
, vol.98
-
-
Danpure, C.J.1
-
2
-
-
84857236273
-
The N-terminal extension is essential for the formation of the active dimeric structure of liver peroxisomal alanine:glyoxylate aminotransferase
-
Montioli R, Fargue S, Lewin J, Zamparelli C, Danpure CJ, Borri Voltattorni C, Cellini B. The N-terminal extension is essential for the formation of the active dimeric structure of liver peroxisomal alanine:glyoxylate aminotransferase. Int J Biochem Cell Biol 2012;44:536-546.
-
(2012)
Int J Biochem Cell Biol
, vol.44
, pp. 536-546
-
-
Montioli, R.1
Fargue, S.2
Lewin, J.3
Zamparelli, C.4
Danpure, C.J.5
Borri Voltattorni, C.6
Cellini, B.7
-
3
-
-
84860004858
-
Molecular requirements for peroxisomal targeting of alanine-glyoxylate aminotransferase as an essential determinant in primary hyperoxaluria type 1
-
Fodor K, Wolf J, Erdmann R, Schliebs W, Wilmanns M. Molecular requirements for peroxisomal targeting of alanine-glyoxylate aminotransferase as an essential determinant in primary hyperoxaluria type 1. PLoS Biol 2012;10:e1001309.
-
(2012)
PLoS Biol
, vol.10
-
-
Fodor, K.1
Wolf, J.2
Erdmann, R.3
Schliebs, W.4
Wilmanns, M.5
-
4
-
-
0042242590
-
Crystal structure of alanine:glyoxylate aminotransferase and the relationship between genotype and enzymatic phenotype in primary hyperoxaluria type 1
-
Zhang X, Roe SM, Hou Y, Bartlam M, Rao Z, Pearl LH, Danpure CJ. Crystal structure of alanine:glyoxylate aminotransferase and the relationship between genotype and enzymatic phenotype in primary hyperoxaluria type 1. J Mol Biol 2003;331:643-652.
-
(2003)
J Mol Biol
, vol.331
, pp. 643-652
-
-
Zhang, X.1
Roe, S.M.2
Hou, Y.3
Bartlam, M.4
Rao, Z.5
Pearl, L.H.6
Danpure, C.J.7
-
5
-
-
0022516472
-
Peroxisomal alanine:glyoxylate aminotransferase deficiency in primary hyperoxaluria type I
-
Danpure CJ, Jennings PR. Peroxisomal alanine:glyoxylate aminotransferase deficiency in primary hyperoxaluria type I. FEBS Lett 1986;201:20-24.
-
(1986)
FEBS Lett
, vol.201
, pp. 20-24
-
-
Danpure, C.J.1
Jennings, P.R.2
-
6
-
-
84865960907
-
OxalEurope. Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment
-
Cochat P, Hulton SA, Acquaviva C, Danpure CJ, Daudon M, De Marchi M, Fargue S, Groothoff J, Harambat J, Hoppe B, Jamieson NV, Kemper MJ, Mandrile G, Marangella M, Picca S, Rumsby G, Salido E, Straub M, van Woerden CS, OxalEurope. Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment. Nephrol Dial Transplant 2012;27:1729-1736.
-
(2012)
Nephrol Dial Transplant
, vol.27
, pp. 1729-1736
-
-
Cochat, P.1
Hulton, S.A.2
Acquaviva, C.3
Danpure, C.J.4
Daudon, M.5
De Marchi, M.6
Fargue, S.7
Groothoff, J.8
Harambat, J.9
Hoppe, B.10
Jamieson, N.V.11
Kemper, M.J.12
Mandrile, G.13
Marangella, M.14
Picca, S.15
Rumsby, G.16
Salido, E.17
Straub, M.18
van Woerden, C.S.19
-
8
-
-
66349125901
-
Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene
-
Williams EL, Acquaviva C, Amoroso A, Chevalier F, Coulter-Mackie M, Monico CG, Giachino D, Owen T, Robbiano A, Salido E, Waterham H, Rumsby G. Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene. Hum Mutat 2009;30:910-917.
-
(2009)
Hum Mutat
, vol.30
, pp. 910-917
-
-
Williams, E.L.1
Acquaviva, C.2
Amoroso, A.3
Chevalier, F.4
Coulter-Mackie, M.5
Monico, C.G.6
Giachino, D.7
Owen, T.8
Robbiano, A.9
Salido, E.10
Waterham, H.11
Rumsby, G.12
-
9
-
-
36349021899
-
Human wild-type alanine:glyoxylate aminotransferase and its naturally occurring G82E variant: functional properties and physiological implications
-
Cellini B, Bertoldi M, Montioli R, Paiardini A, Borri Voltattorni C. Human wild-type alanine:glyoxylate aminotransferase and its naturally occurring G82E variant: functional properties and physiological implications. Biochem J 2007;408:39-50.
-
(2007)
Biochem J
, vol.408
, pp. 39-50
-
-
Cellini, B.1
Bertoldi, M.2
Montioli, R.3
Paiardini, A.4
Borri Voltattorni, C.5
-
10
-
-
78649899924
-
Human liver peroxisomal alanine:glyoxylate aminotransferase: Different stability under chemical stress of the major allele, the minor allele, and its pathogenic G170R variant
-
Cellini B, Lorenzetto A, Montioli R, Oppici E, Voltattorni CB. Human liver peroxisomal alanine:glyoxylate aminotransferase: Different stability under chemical stress of the major allele, the minor allele, and its pathogenic G170R variant. Biochimie 2010;92:1801-1811.
-
(2010)
Biochimie
, vol.92
, pp. 1801-1811
-
-
Cellini, B.1
Lorenzetto, A.2
Montioli, R.3
Oppici, E.4
Voltattorni, C.B.5
-
11
-
-
77649267180
-
Molecular defects of the glycine 41 variants of alanine glyoxylate aminotransferase associated with primary hyperoxaluria type I
-
Cellini B, Montioli R, Paiardini A, Lorenzetto A, Maset F, Bellini T, Oppici E, Voltattorni CB. Molecular defects of the glycine 41 variants of alanine glyoxylate aminotransferase associated with primary hyperoxaluria type I. Proc Natl Acad Sci U S A 2010;107:2896-2901.
-
(2010)
Proc Natl Acad Sci U S A
, vol.107
, pp. 2896-2901
-
-
Cellini, B.1
Montioli, R.2
Paiardini, A.3
Lorenzetto, A.4
Maset, F.5
Bellini, T.6
Oppici, E.7
Voltattorni, C.B.8
-
12
-
-
67649732393
-
Molecular insight into the synergism between the minor allele of human liver peroxisomal alanine:glyoxylate aminotransferase and the F152I mutation
-
Cellini B, Montioli R, Paiardini A, Lorenzetto A, Voltattorni CB. Molecular insight into the synergism between the minor allele of human liver peroxisomal alanine:glyoxylate aminotransferase and the F152I mutation. J Biol Chem 2009;284:8349-8358.
-
(2009)
J Biol Chem
, vol.284
, pp. 8349-8358
-
-
Cellini, B.1
Montioli, R.2
Paiardini, A.3
Lorenzetto, A.4
Voltattorni, C.B.5
-
13
-
-
84860351331
-
Molecular insights into primary hyperoxaluria type 1 pathogenesis
-
Cellini B, Oppici E, Paiardini A, Montioli R. Molecular insights into primary hyperoxaluria type 1 pathogenesis. Front Biosci 2012;17:621-634.
-
(2012)
Front Biosci
, vol.17
, pp. 621-634
-
-
Cellini, B.1
Oppici, E.2
Paiardini, A.3
Montioli, R.4
-
14
-
-
33750628757
-
Consequences of missense mutations for dimerization and turnover of alanine:glyoxylate aminotransferase: study of a spectrum of mutations
-
Coulter-Mackie MB, Lian Q. Consequences of missense mutations for dimerization and turnover of alanine:glyoxylate aminotransferase: study of a spectrum of mutations. Mol Genet Metab 2006;89:349-359.
-
(2006)
Mol Genet Metab
, vol.89
, pp. 349-359
-
-
Coulter-Mackie, M.B.1
Lian, Q.2
-
15
-
-
44649134535
-
Partial trypsin digestion as an indicator of mis-folding of mutant alanine:glyoxylate aminotransferase and chaperone effects of specific ligands. Study of a spectrum of missense mutants
-
Coulter-Mackie MB, Lian Q. Partial trypsin digestion as an indicator of mis-folding of mutant alanine:glyoxylate aminotransferase and chaperone effects of specific ligands. Study of a spectrum of missense mutants. Mol Genet Metab 2008;94:368-374.
-
(2008)
Mol Genet Metab
, vol.94
, pp. 368-374
-
-
Coulter-Mackie, M.B.1
Lian, Q.2
-
16
-
-
33845288635
-
Primary hyperoxaluria type 1: AGT mistargeting highlights the fundamental differences between the peroxisomal and mitochondrial protein import pathways
-
Danpure CJ. Primary hyperoxaluria type 1: AGT mistargeting highlights the fundamental differences between the peroxisomal and mitochondrial protein import pathways. Biochim Biophys Acta 2006;1763:1776-1784.
-
(2006)
Biochim Biophys Acta
, vol.1763
, pp. 1776-1784
-
-
Danpure, C.J.1
-
17
-
-
57649183376
-
In vivo and in vitro examination of stability of primary hyperoxaluria-associated human alanine:glyoxylate aminotransferase
-
Hopper ED, Pittman AM, Fitzgerald MC, Tucker CL. In vivo and in vitro examination of stability of primary hyperoxaluria-associated human alanine:glyoxylate aminotransferase. J Biol Chem 2008;283:30493-30502.
-
(2008)
J Biol Chem
, vol.283
, pp. 30493-30502
-
-
Hopper, E.D.1
Pittman, A.M.2
Fitzgerald, M.C.3
Tucker, C.L.4
-
18
-
-
84855340861
-
Biochemical analyses are instrumental in identifying the impact of mutations on holo and/or apo-forms and on the region(s) of alanine:glyoxylate aminotransferase variants associated with primary hyperoxaluria type I
-
Oppici E, Montioli R, Lorenzetto A, Bianconi S, Borri Voltattorni C, Cellini B. Biochemical analyses are instrumental in identifying the impact of mutations on holo and/or apo-forms and on the region(s) of alanine:glyoxylate aminotransferase variants associated with primary hyperoxaluria type I. Mol Genet Metab 2012;105:132-140.
-
(2012)
Mol Genet Metab
, vol.105
, pp. 132-140
-
-
Oppici, E.1
Montioli, R.2
Lorenzetto, A.3
Bianconi, S.4
Borri Voltattorni, C.5
Cellini, B.6
-
19
-
-
84855247358
-
Role of low native state kinetic stability and interaction of partially unfolded states with molecular chaperones in the mitochondrial protein mistargeting associated with primary hyperoxaluria
-
Pey AL, Salido E, Sanchez-Ruiz JM. Role of low native state kinetic stability and interaction of partially unfolded states with molecular chaperones in the mitochondrial protein mistargeting associated with primary hyperoxaluria. Amino Acids 2011;41:1233-1245.
-
(2011)
Amino Acids
, vol.41
, pp. 1233-1245
-
-
Pey, A.L.1
Salido, E.2
Sanchez-Ruiz, J.M.3
-
20
-
-
84869077214
-
Rapid Profiling of Disease Alleles Using a Tunable Reporter of Protein Misfolding
-
Pittman AM, Lage MD, Poltoratsky V, Vrana JD, Paiardini A, Roncador A, Cellini B, Hughes RM, Tucker CL. Rapid Profiling of Disease Alleles Using a Tunable Reporter of Protein Misfolding. Genetics 2012.
-
(2012)
Genetics
-
-
Pittman, A.M.1
Lage, M.D.2
Poltoratsky, V.3
Vrana, J.D.4
Paiardini, A.5
Roncador, A.6
Cellini, B.7
Hughes, R.M.8
Tucker, C.L.9
-
21
-
-
0038132253
-
Primary hyperoxaluria type 1 in the Canary Islands: a conformational disease due to I244T mutation in the P11L-containing alanine:glyoxylate aminotransferase
-
Santana A, Salido E, Torres A, Shapiro LJ. Primary hyperoxaluria type 1 in the Canary Islands: a conformational disease due to I244T mutation in the P11L-containing alanine:glyoxylate aminotransferase. Proc Natl Acad Sci U S A 2003;100:7277-7282.
-
(2003)
Proc Natl Acad Sci U S A
, vol.100
, pp. 7277-7282
-
-
Santana, A.1
Salido, E.2
Torres, A.3
Shapiro, L.J.4
-
22
-
-
80054681529
-
Human liver peroxisomal alanine:glyoxylate aminotransferase: characterization of the two allelic forms and their pathogenic variants
-
Cellini B, Montioli R, Voltattorni CB. Human liver peroxisomal alanine:glyoxylate aminotransferase: characterization of the two allelic forms and their pathogenic variants. Biochim Biophys Acta 2011;1814:1577-1584.
-
(2011)
Biochim Biophys Acta
, vol.1814
, pp. 1577-1584
-
-
Cellini, B.1
Montioli, R.2
Voltattorni, C.B.3
-
23
-
-
0026953008
-
A serine-to-phenylalanine substitution leads to loss of alanine:glyoxylate aminotransferase catalytic activity and immunoreactivity in a patient with primary hyperoxaluria type 1
-
Minatogawa Y, Tone S, Allsop J, Purdue PE, Takada Y, Danpur CJ, Kido R. A serine-to-phenylalanine substitution leads to loss of alanine:glyoxylate aminotransferase catalytic activity and immunoreactivity in a patient with primary hyperoxaluria type 1. Hum Mol Genet 1992;1:643-644.
-
(1992)
Hum Mol Genet
, vol.1
, pp. 643-644
-
-
Minatogawa, Y.1
Tone, S.2
Allsop, J.3
Purdue, P.E.4
Takada, Y.5
Danpur, C.J.6
Kido, R.7
-
24
-
-
40449128475
-
Construction, purification and characterization of untagged human liver alanine-glyoxylate aminotransferase expressed in Escherichia coli
-
Cellini B, Montioli R, Bianconi S, Lopez-Alonso JP, Voltattorni CB. Construction, purification and characterization of untagged human liver alanine-glyoxylate aminotransferase expressed in Escherichia coli. Protein Pept Lett 2008;15:153-159.
-
(2008)
Protein Pept Lett
, vol.15
, pp. 153-159
-
-
Cellini, B.1
Montioli, R.2
Bianconi, S.3
Lopez-Alonso, J.P.4
Voltattorni, C.B.5
-
27
-
-
79953747244
-
An introduction to data reduction: space-group determination, scaling and intensity statistics
-
Evans PR. An introduction to data reduction: space-group determination, scaling and intensity statistics. Acta Crystallogr D Biol Crystallogr 2011;67(Pt 4):282-292.
-
(2011)
Acta Crystallogr D Biol Crystallogr
, vol.67
, Issue.PART 4
, pp. 282-292
-
-
Evans, P.R.1
-
28
-
-
34447508216
-
Phaser crystallographic software
-
McCoy AJ, Grosse-Kunstleve RW, Adams PD, Winn MD, Storoni LC, Read RJ. Phaser crystallographic software. J Appl Crystallogr 2007;40(Pt 4):658-674.
-
(2007)
J Appl Crystallogr
, vol.40
, Issue.PART 4
, pp. 658-674
-
-
McCoy, A.J.1
Grosse-Kunstleve, R.W.2
Adams, P.D.3
Winn, M.D.4
Storoni, L.C.5
Read, R.J.6
-
30
-
-
13244281317
-
COOT: model-building tools for molecular graphics
-
Pt 12 Pt 1
-
Emsley P, Cowtan K. COOT: model-building tools for molecular graphics. Acta Crystallogr D Biol Crystallogr 2004;60(Pt 12 Pt 1):2126-2132.
-
(2004)
Acta Crystallogr D Biol Crystallogr
, vol.60
, pp. 2126-2132
-
-
Emsley, P.1
Cowtan, K.2
-
31
-
-
74549178560
-
MolProbity: all-atom structure validation for macromolecular crystallography
-
Chen VB, Arendall WB, 3rd, Headd JJ, Keedy DA, Immormino RM, Kapral GJ, Murray LW, Richardson JS, Richardson DC. MolProbity: all-atom structure validation for macromolecular crystallography. Acta Crystallogr D Biol Crystallogr 2010;66(Pt 1):12-21.
-
(2010)
Acta Crystallogr D Biol Crystallogr
, vol.66
, Issue.PART 1
, pp. 12-21
-
-
Chen, V.B.1
3rd Arendall, W.B.2
Headd, J.J.3
Keedy, D.A.4
Immormino, R.M.5
Kapral, G.J.6
Murray, L.W.7
Richardson, J.S.8
Richardson, D.C.9
-
32
-
-
0028103275
-
The CCP4 suite: programs for protein crystallography
-
Collaborative Computational Project N.
-
Collaborative Computational Project N. The CCP4 suite: programs for protein crystallography. Acta Crystallogr D Biol Crystallogr 1994;50(Pt 5):760-763.
-
(1994)
Acta Crystallogr D Biol Crystallogr
, vol.50
, Issue.PART 5
, pp. 760-763
-
-
-
33
-
-
0242626649
-
Treponema denticola cystalysin catalyzes beta-desulfination of L-cysteine sulfinic acid and beta-decarboxylation of L-aspartate and oxalacetate
-
Cellini B, Bertoldi M, Borri Voltattorni C. Treponema denticola cystalysin catalyzes beta-desulfination of L-cysteine sulfinic acid and beta-decarboxylation of L-aspartate and oxalacetate. FEBS Lett 2003;554:306-310.
-
(2003)
FEBS Lett
, vol.554
, pp. 306-310
-
-
Cellini, B.1
Bertoldi, M.2
Borri Voltattorni, C.3
-
34
-
-
84857609756
-
Identification by virtual screening and in vitro testing of human DOPA decarboxylase inhibitors
-
Daidone F, Montioli R, Paiardini A, Cellini B, Macchiarulo A, Giardina G, Bossa F, Borri Voltattorni C. Identification by virtual screening and in vitro testing of human DOPA decarboxylase inhibitors. PLoS One 2012;7:e31610.
-
(2012)
PLoS One
, vol.7
-
-
Daidone, F.1
Montioli, R.2
Paiardini, A.3
Cellini, B.4
Macchiarulo, A.5
Giardina, G.6
Bossa, F.7
Borri Voltattorni, C.8
-
35
-
-
84875801452
-
S250F variant associated with aromatic amino acid decarboxylase deficiency: molecular defects and intracellular rescue by pyridoxine
-
Montioli R, Oppici E, Cellini B, Roncador A, Dindo M, Voltattorni CB. S250F variant associated with aromatic amino acid decarboxylase deficiency: molecular defects and intracellular rescue by pyridoxine. Hum Mol Genet 2013.
-
(2013)
Hum Mol Genet
-
-
Montioli, R.1
Oppici, E.2
Cellini, B.3
Roncador, A.4
Dindo, M.5
Voltattorni, C.B.6
-
36
-
-
0000051486
-
Derivation of force fields for molecular mechanics and dynamics from ab initio energy surfaces
-
Maple JR, Dinur U, Hagler AT. Derivation of force fields for molecular mechanics and dynamics from ab initio energy surfaces. Proc Natl Acad Sci U S A 1988;85:5350-5354.
-
(1988)
Proc Natl Acad Sci U S A
, vol.85
, pp. 5350-5354
-
-
Maple, J.R.1
Dinur, U.2
Hagler, A.T.3
-
37
-
-
0031370977
-
LIGSITE: automatic and efficient detection of potential small molecule-binding sites in proteins
-
389.
-
Hendlich M, Rippmann F, Barnickel G. LIGSITE: automatic and efficient detection of potential small molecule-binding sites in proteins. J Mol Graph Model 1997;15:359-363, 389.
-
(1997)
J Mol Graph Model
, vol.15
, pp. 359-363
-
-
Hendlich, M.1
Rippmann, F.2
Barnickel, G.3
-
38
-
-
3943113663
-
Pyridoxal phosphate enzymes: mechanistic, structural, and evolutionary considerations
-
Eliot AC, Kirsch JF. Pyridoxal phosphate enzymes: mechanistic, structural, and evolutionary considerations. Annu Rev Biochem 2004;73:383-415.
-
(2004)
Annu Rev Biochem
, vol.73
, pp. 383-415
-
-
Eliot, A.C.1
Kirsch, J.F.2
-
39
-
-
0034680869
-
Functional synergism between the most common polymorphism in human alanine:glyoxylate aminotransferase and four of the most common disease-causing mutations
-
Lumb MJ, Danpure CJ. Functional synergism between the most common polymorphism in human alanine:glyoxylate aminotransferase and four of the most common disease-causing mutations. J Biol Chem 2000;275:36415-36422.
-
(2000)
J Biol Chem
, vol.275
, pp. 36415-36422
-
-
Lumb, M.J.1
Danpure, C.J.2
-
40
-
-
44949211493
-
Kinetic properties of polymorphic variants and pathogenic mutants in human cystathionine gamma-lyase
-
Zhu W, Lin A, Banerjee R. Kinetic properties of polymorphic variants and pathogenic mutants in human cystathionine gamma-lyase. Biochemistry 2008;47:6226-6232.
-
(2008)
Biochemistry
, vol.47
, pp. 6226-6232
-
-
Zhu, W.1
Lin, A.2
Banerjee, R.3
-
41
-
-
84873872722
-
Biochemical and computational approaches to improve the clinical treatment of dopa decarboxylase-related diseases: an overview
-
Cellini B, Montioli R, Oppici E, Voltattorni CB. Biochemical and computational approaches to improve the clinical treatment of dopa decarboxylase-related diseases: an overview. Open Biochem J 2012;6:131-138.
-
(2012)
Open Biochem J
, vol.6
, pp. 131-138
-
-
Cellini, B.1
Montioli, R.2
Oppici, E.3
Voltattorni, C.B.4
|