-
1
-
-
84864355523
-
An update on primary hyperoxaluria
-
10.1038/nrneph.2012.113
-
Hoppe B., An update on primary hyperoxaluria. Nature Reviews Nephrology 2012 8 467 475 10.1038/nrneph.2012.113
-
(2012)
Nature Reviews Nephrology
, vol.8
, pp. 467-475
-
-
Hoppe, B.1
-
2
-
-
84864038743
-
Primary hyperoxalurias: Disorders of glyoxylate detoxification
-
2-s2.0-84858966967 10.1016/j.bbadis.2012.03.004
-
Salido E., Pey A. L., Rodriguez R., Lorenzo V., Primary hyperoxalurias: disorders of glyoxylate detoxification. Biochimica et Biophysica Acta 2012 1822 9 1453 1464 2-s2.0-84858966967 10.1016/j.bbadis.2012.03.004
-
(2012)
Biochimica et Biophysica Acta
, vol.1822
, Issue.9
, pp. 1453-1464
-
-
Salido, E.1
Pey, A.L.2
Rodriguez, R.3
Lorenzo, V.4
-
3
-
-
0000144788
-
Primary hyperoxalurias
-
8th New York, NY, USA McGraw-Hill
-
Danpure C. J., Scriver C. R., Beaudet A. L., Sly W. S., Valle D., Childs B., Kinzler K. W., Vogelstein B., Primary hyperoxalurias. The Metabolic and Molecular Bases of Inherited Disease 2001 2 8th New York, NY, USA McGraw-Hill 3323 3367
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, vol.2
, pp. 3323-3367
-
-
Danpure, C.J.1
Scriver, C.R.2
Beaudet, A.L.3
Sly, W.S.4
Valle, D.5
Childs, B.6
Kinzler, K.W.7
Vogelstein, B.8
-
4
-
-
0021880465
-
Purification and properties of the dnaJ replication protein of Escherichia coli
-
Zylicz M., Yamamoto T., McKittrick N., Sell S., Georgopoulos C., Purification and properties of the dnaJ replication protein of Escherichia coli. The Journal of Biological Chemistry 1985 260 12 7591 7598 2-s2.0-0021880465 (Pubitemid 15063042)
-
(1985)
Journal of Biological Chemistry
, vol.260
, Issue.12
, pp. 7591-7598
-
-
Zylicz, M.1
Yamamoto, T.2
McKittrick, N.3
-
5
-
-
77349099958
-
Evolutionary origins of metabolic compartmentalization in eukaryotes
-
10.1098/rstb.2009.0252
-
Martin W., Evolutionary origins of metabolic compartmentalization in eukaryotes. Philosophical Transactions of the Royal Society B 2010 365 1541 847 855 10.1098/rstb.2009.0252
-
(2010)
Philosophical Transactions of the Royal Society B
, vol.365
, Issue.1541
, pp. 847-855
-
-
Martin, W.1
-
6
-
-
33746366462
-
Biochemistry of mammalian peroxisomes revisited
-
DOI 10.1146/annurev.biochem.74.082803.133329
-
Wanders R. J. A., Waterham H. R., Biochemistry of mammalian peroxisomes revisited. Annual Review of Biochemistry 2006 75 295 332 2-s2.0-33746366462 10.1146/annurev.biochem.74.082803.133329 (Pubitemid 44118035)
-
(2006)
Annual Review of Biochemistry
, vol.75
, pp. 295-332
-
-
Wanders, R.J.A.1
Waterham, H.R.2
-
7
-
-
64549157197
-
Pxmp2 is a channel-forming protein in mammalian peroxisomal membrane
-
2-s2.0-64549157197 10.1371/journal.pone.0005090 e5090
-
Rokka A., Antonenkov V. D., Soininen R., Immonen H. L., Pirilä P. L., Bergmann U., Sormunen R. T., Weckström M., Benz R., Hiltunen J. K., Pxmp2 is a channel-forming protein in mammalian peroxisomal membrane. PLoS ONE 2009 4 4 2-s2.0-64549157197 10.1371/journal.pone.0005090 e5090
-
(2009)
PLoS ONE
, vol.4
, Issue.4
-
-
Rokka, A.1
Antonenkov, V.D.2
Soininen, R.3
Immonen, H.L.4
Pirilä, P.L.5
Bergmann, U.6
Sormunen, R.T.7
Weckström, M.8
Benz, R.9
Hiltunen, J.K.10
-
8
-
-
36349021899
-
Human wild-type alanine: Glyoxylate aminotransferase and its naturally occurring G82E variant: Functional properties and physiological implications
-
DOI 10.1042/BJ20070637
-
Cellini B., Bertoldi M., Montioli R., Paiardini A., Voltattorni C. B., Human wild-type alanine:glyoxylate aminotransferase and its naturally occurring G82E variant: functional properties and physiological implications. Biochemical Journal 2007 408 1 39 50 2-s2.0-36349021899 10.1042/BJ20070637 (Pubitemid 350158401)
-
(2007)
Biochemical Journal
, vol.408
, Issue.1
, pp. 39-50
-
-
Cellini, B.1
Bertoldi, M.2
Montioli, R.3
Paiardini, A.4
Borri Voltattorni, C.5
-
9
-
-
20844432537
-
Mitochondrial hydroxyproline metabolism: Implications for primary hyperoxaluria
-
DOI 10.1159/000085409
-
Knight J., Holmes R. P., Mitochondrial hydroxyproline metabolism: implications for primary hyperoxaluria. The American Journal of Nephrology 2005 25 2 171 175 2-s2.0-20844432537 10.1159/000085409 (Pubitemid 40864186)
-
(2005)
American Journal of Nephrology
, vol.25
, Issue.2
, pp. 171-175
-
-
Knight, J.1
Holmes, R.P.2
-
10
-
-
33845275160
-
Hydroxyproline ingestion and urinary oxalate and glycolate excretion
-
DOI 10.1038/sj.ki.5001906, PII 5001906
-
Knight J., Jiang J., Assimos D. G., Holmes R. P., Hydroxyproline ingestion and urinary oxalate and glycolate excretion. Kidney International 2006 70 11 1929 1934 2-s2.0-33845275160 10.1038/sj.ki.5001906 (Pubitemid 44863380)
-
(2006)
Kidney International
, vol.70
, Issue.11
, pp. 1929-1934
-
-
Knight, J.1
Jiang, J.2
Assimos, D.G.3
Holmes, R.P.4
-
11
-
-
0018890003
-
Metabolism of proline and the hydroxyprolines
-
2-s2.0-0018890003
-
Adams E., Frank L., Metabolism of proline and the hydroxyprolines. Annual Review of Biochemistry 1980 49 1005 1061 2-s2.0-0018890003
-
(1980)
Annual Review of Biochemistry
, vol.49
, pp. 1005-1061
-
-
Adams, E.1
Frank, L.2
-
12
-
-
0008806776
-
Glyoxylate synthesis, and its modulation and influence on oxalate synthesis
-
Holmes R. P., Assimos D. G., Glyoxylate synthesis, and its modulation and influence on oxalate synthesis. Journal of Urology 1998 160 5 1617 1624 2-s2.0-0008806776 10.1016/S0022-5347(01)62363-2 (Pubitemid 128746725)
-
(1998)
Journal of Urology
, vol.160
, Issue.5
, pp. 1617-1624
-
-
Holmes, R.P.1
Assimos, D.G.2
-
13
-
-
0003154749
-
Disorders in proline and hidroxyproline metabolism
-
New York, NY, USA McGraw-Hill
-
Phang J. M., Hu C. A., Valle D., Scriver C. R., Beaudet A., Sly W., Valle D., Childs B., Disorders in proline and hidroxyproline metabolism. The Metabolic and Molecular Bases of Inherited Disease 2001 New York, NY, USA McGraw-Hill 1821 1838
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 1821-1838
-
-
Phang, J.M.1
Hu, C.A.2
Valle, D.3
Scriver, C.R.4
Beaudet, A.5
Sly, W.6
Valle, D.7
Childs, B.8
-
14
-
-
0028877142
-
Epidemiology of primary hyperoxaluria type 1
-
supplement 8 2-s2.0-0028877142
-
Cochat P., Deloraine A., Rotily M., Olive F., Liponski I., Deries N., Epidemiology of primary hyperoxaluria type 1. Nephrology Dialysis Transplantation 1995 10 supplement 8 3 7 2-s2.0-0028877142
-
(1995)
Nephrology Dialysis Transplantation
, vol.10
, pp. 3-7
-
-
Cochat, P.1
Deloraine, A.2
Rotily, M.3
Olive, F.4
Liponski, I.5
Deries, N.6
-
15
-
-
85047697252
-
Changing pattern of primary hyperoxaluria in Switzerland
-
Kopp N., Leumann E., Changing pattern of primary hyperoxaluria in Switzerland. Nephrology Dialysis Transplantation 1995 10 12 2224 2227 2-s2.0-0029558666 (Pubitemid 26033433)
-
(1995)
Nephrology Dialysis Transplantation
, vol.10
, Issue.12
, pp. 2224-2227
-
-
Kopp, N.1
Leumann, E.2
-
16
-
-
0037317074
-
Primary hyperoxaluria type 1 in The Netherlands: Prevalence and outcome
-
DOI 10.1093/ndt/18.2.273
-
van Woerden C. S., Groothoff J. W., Wanders R. J. A., Davin J., Wijburg F. A., Primary hyperoxaluria type 1 in The Netherlands: prevalence and outcome. Nephrology Dialysis Transplantation 2003 18 2 273 279 2-s2.0-0037317074 10.1093/ndt/18.2.273 (Pubitemid 36181676)
-
(2003)
Nephrology Dialysis Transplantation
, vol.18
, Issue.2
, pp. 273-279
-
-
Van Woerden, C.S.1
Groothoff, J.W.2
Wanders, R.J.A.3
Davin, J.-C.4
Wijburg, F.A.5
-
17
-
-
33748434912
-
Presentation and role of transplantation in adult patients with type 1 primary hyperoxaluria and the I244T AGXT mutation: Single-center experience
-
DOI 10.1038/sj.ki.5001758, PII 5001758
-
Lorenzo V., Alvarez A., Torres A., Torregrosa V., Hernández D., Salido E., Presentation and role of transplantation in adult patients with type 1 primary hyperoxaluria and the I244T AGXT mutation: single-center experience. Kidney International 2006 70 6 1115 1119 2-s2.0-33748434912 10.1038/sj.ki. 5001758 (Pubitemid 44344082)
-
(2006)
Kidney International
, vol.70
, Issue.6
, pp. 1115-1119
-
-
Lorenzo, V.1
Alvarez, A.2
Torres, A.3
Torregrosa, V.4
Hernandez, D.5
Salido, E.6
-
18
-
-
84858065580
-
Characteristics and outcomes of children with primary oxalosis requiring renal replacement therapy
-
2-s2.0-84858065580 10.2215/CJN.07430711
-
Harambat J., van Stralen K. J., Espinosa L., Groothoff J. W., Hulton S., Cerkauskiene R., Schaefer F., Verrina E., Jager K. J., Cochat P., Characteristics and outcomes of children with primary oxalosis requiring renal replacement therapy. Clinical Journal of the American Society of Nephrology 2012 7 3 458 465 2-s2.0-84858065580 10.2215/CJN.07430711
-
(2012)
Clinical Journal of the American Society of Nephrology
, vol.7
, Issue.3
, pp. 458-465
-
-
Harambat, J.1
Van Stralen, K.J.2
Espinosa, L.3
Groothoff, J.W.4
Hulton, S.5
Cerkauskiene, R.6
Schaefer, F.7
Verrina, E.8
Jager, K.J.9
Cochat, P.10
-
19
-
-
4444302566
-
End-stage renal disease in Kuwaiti children: An 8-year experience
-
DOI 10.1016/j.transproceed.2004.07.024, PII S0041134504008061
-
Al-Eisa A. A., Samhan M., Naseef M., End-stage renal disease in Kuwaiti children: an 8-year experience. Transplantation Proceedings 2004 36 6 1788 1791 2-s2.0-4444302566 10.1016/j.transproceed.2004.07.024 (Pubitemid 39200428)
-
(2004)
Transplantation Proceedings
, vol.36
, Issue.6
, pp. 1788-1791
-
-
Al-Eisa, A.A.1
Samhan, M.2
Naseef, M.3
-
20
-
-
0029785645
-
End-stage renal disease of the Tunisian child: Epidemiology, etiologies, and outcome
-
DOI 10.1007/s004670050143
-
Kamoun A., Lakhoua R., End-stage renal disease of the Tunisian child: epidemiology, etiologies, and outcome. Pediatric Nephrology 1996 10 4 479 482 2-s2.0-0029785645 10.1007/s004670050143 (Pubitemid 26261606)
-
(1996)
Pediatric Nephrology
, vol.10
, Issue.4
, pp. 479-482
-
-
Kamoun, A.1
Lakhoua, R.2
-
21
-
-
0022516472
-
Peroxisomal alanine: Glyoxylate aminotransferase deficiency in primary hyperoxaluria type I
-
DOI 10.1016/0014-5793(86)80563-4
-
Danpure C. J., Jennings P. R., Peroxisomal alanine:glyoxylate aminotransferase deficiency in primary hyperoxaluria type I. FEBS Letters 1986 201 1 20 24 2-s2.0-0022516472 (Pubitemid 16072347)
-
(1986)
FEBS Letters
, vol.201
, Issue.1
, pp. 20-24
-
-
Danpure, C.J.1
Jennings, P.R.2
-
23
-
-
0025241478
-
Cloning and nucleotide sequence of cDNA encoding human liver serine-pyruvate aminotransferase
-
2-s2.0-0025241478 10.1111/j.1432-1033.1990.tb19420.x
-
Nishiyama K., Berstein G., Oda T., Ichiyama A., Cloning and nucleotide sequence of cDNA encoding human liver serine-pyruvate aminotransferase. European Journal of Biochemistry 1990 194 1 9 18 2-s2.0-0025241478 10.1111/j.1432-1033. 1990.tb19420.x
-
(1990)
European Journal of Biochemistry
, vol.194
, Issue.1
, pp. 9-18
-
-
Nishiyama, K.1
Berstein, G.2
Oda, T.3
Ichiyama, A.4
-
24
-
-
0025372539
-
Human peroxisomal L-alanine: Glyoxylate aminotransferase. Evolutionary loss of a mitochondrial targeting signal by point mutation of the initiation codon
-
Takada Y., Kaneko N., Esumi H., Purdue P. E., Danpure C. J., Human peroxisomal L-alanine:glyoxylate aminotransferase. Evolutionary loss of a mitochondrial targeting signal by point mutation of the initiation codon. Biochemical Journal 1990 268 2 517 520 2-s2.0-0025372539 (Pubitemid 20193998)
-
(1990)
Biochemical Journal
, vol.268
, Issue.2
, pp. 517-520
-
-
Takada, Y.1
Kaneko, N.2
Esumi, H.3
Purdue, P.E.4
Danpure, C.J.5
-
25
-
-
0025320713
-
Generation from a single gene of two mRNAs that encode the mitochondrial and peroxisomal serine: Pyruvate aminotransferase of rat liver
-
2-s2.0-0025320713
-
Oda T., Funai T., Ichiyama A., Generation from a single gene of two mRNAs that encode the mitochondrial and peroxisomal serine:pyruvate aminotransferase of rat liver. The Journal of Biological Chemistry 1990 265 13 7513 7519 2-s2.0-0025320713
-
(1990)
The Journal of Biological Chemistry
, vol.265
, Issue.13
, pp. 7513-7519
-
-
Oda, T.1
Funai, T.2
Ichiyama, A.3
-
26
-
-
0025760316
-
Characterization and chromosomal mapping of a genomic clone encoding human alanine: Glyoxylate aminotransferase
-
2-s2.0-0025760316 10.1016/0888-7543(91)90481-S
-
Purdue P. E., Lumb M. J., Fox M., Griffo G., Hamon-Benais C., Povey S., Danpure C. J., Characterization and chromosomal mapping of a genomic clone encoding human alanine: glyoxylate aminotransferase. Genomics 1991 10 1 34 42 2-s2.0-0025760316 10.1016/0888-7543(91)90481-S
-
(1991)
Genomics
, vol.10
, Issue.1
, pp. 34-42
-
-
Purdue, P.E.1
Lumb, M.J.2
Fox, M.3
Griffo, G.4
Hamon-Benais, C.5
Povey, S.6
Danpure, C.J.7
-
27
-
-
0042242590
-
Crystal structure of alanine: Glyoxylate aminotransferase and the relationship between genotype and enzymatic phenotype in primary hyperoxaluria type 1
-
DOI 10.1016/S0022-2836(03)00791-5
-
Zhang X., Roe S. M., Hou Y., Bartlam M., Rao Z., Pearl L. H., Danpure C. J., Crystal structure of alanine:glyoxylate aminotransferase and the relationship between genotype and enzymatic phenotype in primary hyperoxaluria type 1. Journal of Molecular Biology 2003 331 3 643 652 2-s2.0-0042242590 10.1016/S0022-2836(03)00791-5 (Pubitemid 36937151)
-
(2003)
Journal of Molecular Biology
, vol.331
, Issue.3
, 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
-
28
-
-
77949828223
-
A proteome-wide perspective on peroxisome targeting signal 1(PTS1)-Pex5p affinities
-
2-s2.0-77949828223 10.1021/ja9109049
-
Ghosh D., Berg J. M., A proteome-wide perspective on peroxisome targeting signal 1(PTS1)-Pex5p affinities. Journal of the American Chemical Society 2010 132 11 3973 3979 2-s2.0-77949828223 10.1021/ja9109049
-
(2010)
Journal of the American Chemical Society
, vol.132
, Issue.11
, pp. 3973-3979
-
-
Ghosh, D.1
Berg, J.M.2
-
29
-
-
22844439111
-
Peroxisomal import of human alanine: Glyoxylate aminotransferase requires ancillary targeting information remote from its C terminus
-
DOI 10.1074/jbc.M502719200
-
Huber P. A. J., Birdsey G. M., Lumb M. J., Prowse D. T. R., Perkins T. J., Knight D. R., Danpure C. J., Peroxisomal import of human alanine:glyoxylate aminotransferase requires ancillary targeting information remote from its C terminus. The Journal of Biological Chemistry 2005 280 29 27111 27120 2-s2.0-22844439111 10.1074/jbc.M502719200 (Pubitemid 41040749)
-
(2005)
Journal of Biological Chemistry
, vol.280
, Issue.29
, pp. 27111-27120
-
-
Huber, P.A.J.1
Birdsey, G.M.2
Lumb, M.J.3
Prowse, D.T.R.4
Perkins, T.J.5
Knight, D.R.6
Danpure, C.J.7
-
30
-
-
84860004858
-
Molecular requirements for peroxisomal targeting of alanine-glyoxylate aminotransferase as an essential determinant in primary hyperoxaluria type 1
-
2-s2.0-84860004858 10.1371/journal.pbio.1001309 e1001309
-
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 Biology 2012 10 4 2-s2.0-84860004858 10.1371/journal.pbio.1001309 e1001309
-
(2012)
PLoS Biology
, vol.10
, Issue.4
-
-
Fodor, K.1
Wolf, J.2
Erdmann, R.3
Schliebs, W.4
Wilmanns, M.5
-
31
-
-
66349125901
-
Primary hyperoxaluria type 1: Update and additional mutation analysis of the AGXT gene
-
2-s2.0-66349125901 10.1002/humu.21021
-
Williams E. L., Acquaviva C., Amoroso A., Chevalier F., Coulter-Mackie M., Monico C. G., 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. Human Mutation 2009 30 6 910 917 2-s2.0-66349125901 10.1002/humu.21021
-
(2009)
Human Mutation
, vol.30
, Issue.6
, 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
-
32
-
-
34347386233
-
Selected exonic sequencing of the AGXT gene provides a genetic diagnosis in 50% of patients with primary hyperoxaluria type I
-
DOI 10.1373/clinchem.2006.084434
-
Williams E., Rumsby G., Selected exonic sequencing of the AGXT gene provides a genetic diagnosis in 50% of patients with primary hyperoxaluria type I. Clinical Chemistry 2007 53 7 1216 1221 2-s2.0-34347386233 10.1373/clinchem.2006.084434 (Pubitemid 47020976)
-
(2007)
Clinical Chemistry
, vol.53
, Issue.7
, pp. 1216-1221
-
-
Williams, E.1
Rumsby, G.2
-
33
-
-
4744370967
-
Molecular aetiology of primary hyperoxaluria and its implications for clinical management
-
DOI 10.1017/S1462399404007203
-
Danpure C. J., Rumsby G., Molecular aetiology of primary hyperoxaluria and its implications for clinical management. Expert Reviews in Molecular Medicine 2004 6 1 1 16 2-s2.0-4744370967 10.1017/S1462399404007203 (Pubitemid 43118264)
-
(2004)
Expert Reviews in Molecular Medicine
, vol.6
, Issue.1
-
-
Danpure, C.J.1
Rumsby, G.2
-
34
-
-
0038132253
-
Primary hyperoxaluria type 1 in the Canary Islands: A conformational disease due to I244T mutation in the P11L-containing alanine:glyoxylate aminotransferase
-
DOI 10.1073/pnas.1131968100
-
Santana A., Salido E., Torres A., Shapiro L. J., Primary hyperoxaluria type 1 in the Canary Islands: a conformational disease due to I244T mutation in the P11L-containing alanine:glyoxylate aminotransferase. Proceedings of the National Academy of Sciences of the United States of America 2003 100 12 7277 7282 2-s2.0-0038132253 10.1073/pnas.1131968100 (Pubitemid 36706429)
-
(2003)
Proceedings of the National Academy of Sciences of the United States of America
, vol.100
, Issue.12
, pp. 7277-7282
-
-
Santana, A.1
Salido, E.2
Torres, A.3
Shapiro, L.J.4
-
35
-
-
0028146665
-
Primary hyperoxaluria type 1: Genotypic and phenotypic heterogeneity
-
DOI 10.1007/BF00711363
-
Danpure C. J., Jennings P. R., Fryer P., Purdue P. E., Allsop J., Primary hyperoxaluria type 1: genotypic and phenotypic heterogeneity. Journal of Inherited Metabolic Disease 1994 17 4 487 499 2-s2.0-0028146665 10.1007/BF00711363 (Pubitemid 24237881)
-
(1994)
Journal of Inherited Metabolic Disease
, vol.17
, Issue.4
, pp. 487-499
-
-
Danpure, C.J.1
Jennings, P.R.2
Fryer, P.3
Purdue, P.E.4
Allsop, J.5
-
36
-
-
0027485951
-
ATP-dependent degradation of a mutant serine: Pyruvate/alanine:glyoxylate aminotransferase in a primary hyperoxaluria type 1 case
-
DOI 10.1083/jcb.123.5.1237
-
Nishiyama K., Funai T., Yokota S., Ichiyama A., ATP-dependent degradation of a mutant serine:pyruvate/alanine:glyoxylate aminotransferase in a primary hyperoxaluria type 1 case. Journal of Cell Biology 1993 123 5 1237 1248 2-s2.0-0027485951 10.1083/jcb.123.5.1237 (Pubitemid 23352431)
-
(1993)
Journal of Cell Biology
, vol.123
, Issue.5
, pp. 1237-1248
-
-
Nishiyama, K.1
Funai, T.2
Yokota, S.3
Ichiyama, A.4
-
37
-
-
0024535978
-
An enzyme trafficking defect in two patients with primary hyperoxaluria type 1: Peroxisomal analine/glyoxylate aminotransferase rerouted to mitochondria
-
DOI 10.1083/jcb.108.4.1345
-
Danpure C. J., Cooper P. J., Wise P. J., Jennings P. R., An enzyme trafficking defect in two patients with primary hyperoxaluria type 1: peroxisomal analine/glyoxylate aminotransferase rerouted to mitochondria. Journal of Cell Biology 1989 108 4 1345 1352 2-s2.0-0024535978 (Pubitemid 19097042)
-
(1989)
Journal of Cell Biology
, vol.108
, Issue.4
, pp. 1345-1352
-
-
Danpure, C.J.1
Cooper, P.J.2
Wise, P.J.3
Jennings, P.R.4
-
38
-
-
0027378530
-
Enzymological and mutational analysis of a complex primary hyperoxaluria type I phenotype involving alanine: Glyoxylate aminotransferase peroxisome- To-mitochondrion mistargeting and intraperoxisomal aggregation
-
Danpure C. J., Purdue P. E., Fryer P., Griffiths S., Allsop J., Lumb M. J., Guttridge K. M., Jennings P. R., Scheinman J. I., Mauer S. M., Davidson N. O., Enzymological and mutational analysis of a complex primary hyperoxaluria type I phenotype involving alanine:glyoxylate aminotransferase peroxisome-to-mitochondrion mistargeting and intraperoxisomal aggregation. The American Journal of Human Genetics 1993 53 2 417 432 2-s2.0-0027378530 (Pubitemid 23308936)
-
(1993)
American Journal of Human Genetics
, vol.53
, Issue.2
, pp. 417-432
-
-
Danpure, C.J.1
Purdue, P.E.2
Fryer, P.3
Griffiths, S.4
Allsop, J.5
Lumb, M.J.6
Guttridge, K.M.7
Jennings, P.R.8
Scheinman, J.I.9
Mauer, S.M.10
Davidson, N.O.11
-
39
-
-
0025640818
-
Identification of mutations associated with peroxisome-to-mitochondrion mistargeting of alanine/glyoxylate aminotransferase in primary hyperoxaluria type 1
-
Purdue P. E., Takada Y., Danpure C. J., Identification of mutations associated with peroxisome-to-mitochondrian mistargeting of alanine/glyoxylate aminotransferase in primary hyperoxaluria Type 1. Journal of Cell Biology 1990 111 6 I 2341 2351 2-s2.0-0025640818 10.1083/jcb.111.6.2341 (Pubitemid 120014519)
-
(1990)
Journal of Cell Biology
, vol.111
, Issue.6 PART 1
, pp. 2341-2351
-
-
Purdue, P.E.1
Takada, Y.2
Danpure, C.J.3
-
40
-
-
0034680869
-
Functional synergism between the most common polymorphism in human alanine: Glyoxylate aminotransferase and four of the most common disease-causing mutations
-
2-s2.0-0034680869 10.1074/jbc.M006693200
-
Lumb M. J., Danpure C. J., Functional synergism between the most common polymorphism in human alanine:glyoxylate aminotransferase and four of the most common disease-causing mutations. The Journal of Biological Chemistry 2000 275 46 36415 36422 2-s2.0-0034680869 10.1074/jbc.M006693200
-
(2000)
The Journal of Biological Chemistry
, vol.275
, Issue.46
, pp. 36415-36422
-
-
Lumb, M.J.1
Danpure, C.J.2
-
41
-
-
33845288635
-
Primary hyperoxaluria type 1: AGT mistargeting highlights the fundamental differences between the peroxisomal and mitochondrial protein import pathways
-
DOI 10.1016/j.bbamcr.2006.08.021, PII S0167488906002291, Peroxisomes: Morphology, Function, Biogenesis and Disorders
-
Danpure C. J., Primary hyperoxaluria type 1: AGT mistargeting highlights the fundamental differences between the peroxisomal and mitochondrial protein import pathways. Biochimica et Biophysica Acta 2006 1763 12 1776 1784 2-s2.0-33845288635 10.1016/j.bbamcr.2006.08.021 (Pubitemid 44880464)
-
(2006)
Biochimica et Biophysica Acta - Molecular Cell Research
, vol.1763
, Issue.12
, pp. 1776-1784
-
-
Danpure, C.J.1
-
42
-
-
68649110959
-
Bridging the gap: From protein misfolding to protein misfolding diseases
-
2-s2.0-68649110959 10.1016/j.febslet.2009.06.030
-
Luheshi L. M., Dobson C. M., Bridging the gap: from protein misfolding to protein misfolding diseases. FEBS Letters 2009 583 16 2581 2586 2-s2.0-68649110959 10.1016/j.febslet.2009.06.030
-
(2009)
FEBS Letters
, vol.583
, Issue.16
, pp. 2581-2586
-
-
Luheshi, L.M.1
Dobson, C.M.2
-
43
-
-
77649267180
-
Molecular defects of the glycine 41 variants of alanine glyoxylate aminotransferase associated with primary hyperoxaluria type i
-
2-s2.0-77649267180 10.1073/pnas.0908565107
-
Cellini B., Montioli R., Paiardini A., Lorenzetto A., Maset F., Bellini T., Oppici E., Voltattorni C. B., Molecular defects of the glycine 41 variants of alanine glyoxylate aminotransferase associated with primary hyperoxaluria type I. Proceedings of the National Academy of Sciences of the United States of America 2010 107 7 2896 2901 2-s2.0-77649267180 10.1073/pnas.0908565107
-
(2010)
Proceedings of the National Academy of Sciences of the United States of America
, vol.107
, Issue.7
, 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
-
44
-
-
80054681529
-
Human liver peroxisomal alanine: Glyoxylate aminotransferase: Characterization of the two allelic forms and their pathogenic variants
-
2-s2.0-80054681529 10.1016/j.bbapap.2010.12.005
-
Cellini B., Montioli R., Voltattorni C. B., Human liver peroxisomal alanine:glyoxylate aminotransferase: characterization of the two allelic forms and their pathogenic variants. Biochimica et Biophysica Acta 2011 1814 11 1577 1584 2-s2.0-80054681529 10.1016/j.bbapap.2010.12.005
-
(2011)
Biochimica et Biophysica Acta
, vol.1814
, Issue.11
, pp. 1577-1584
-
-
Cellini, B.1
Montioli, R.2
Voltattorni, C.B.3
-
45
-
-
0042521090
-
Primary hyperoxaluria: Genotype-phenotype correlation
-
Pirulli D., Marangella M., Amoroso A., Primary hyperoxaluria: genotype-phenotype correlation. Journal of Nephrology 2003 16 2 297 309 2-s2.0-0042521090 (Pubitemid 37304090)
-
(2003)
Journal of Nephrology
, vol.16
, Issue.2
, pp. 297-309
-
-
Pirulli, D.1
Marangella, M.2
Amoroso, A.3
-
46
-
-
4344613570
-
Evaluation of mutation screening as a first line test for the diagnosis of the primary hyperoxalurias
-
DOI 10.1111/j.1523-1755.2004.00842.x
-
Rumsby G., Williams E., Coulter-Mackie M., Evaluation of mutation screening as a first line test for the diagnosis of the primary hyperoxalurias. Kidney International 2004 66 3 959 963 2-s2.0-4344613570 10.1111/j.1523-1755. 2004.00842.x (Pubitemid 39120998)
-
(2004)
Kidney International
, vol.66
, Issue.3
, pp. 959-963
-
-
Rumsby, G.1
Williams, E.2
Coulter-Mackie, M.3
-
47
-
-
0031033015
-
A vertical (pseudodominant) pattern of inheritance in the autosomal recessive disease primary hyperoxaluria type 1: Lack of relationship between genotype, enzymic phenotype, and disease severity
-
Hoppe B., Danpure C. J., Rumsby G., Fryer P., Jennings P. R., Blau N., Schubiger G., Neuhaus T., Leumann E., A vertical (pseudodominant) pattern of inheritance in the autosomal recessive disease primary hyperoxaluria type 1: lack of relationship between genotype, enzymic phenotype, and disease severity. The American Journal of Kidney Diseases 1997 29 1 36 44 2-s2.0-0031033015 (Pubitemid 27020794)
-
(1997)
American Journal of Kidney Diseases
, vol.29
, Issue.1
, pp. 36-44
-
-
Hoppe, B.1
Danpure, C.J.2
Rumsby, G.3
Fryer, P.4
Jennings, P.R.5
Blau, N.6
Schubiger, G.7
Neuhaus, T.8
Leumann, E.9
-
49
-
-
77749285781
-
Structural implications of a G170R mutation of alanine: Glyoxylate aminotransferase that is associated with peroxisome-to-mitochondrion mistargeting
-
2-s2.0-77749285781 10.1107/S1744309109054645
-
Djordjevic S., Zhang X., Bartlam M., Ye S., Rao Z., Danpure C. J., Structural implications of a G170R mutation of alanine:glyoxylate aminotransferase that is associated with peroxisome-to-mitochondrion mistargeting. Acta Crystallographica F 2010 66 3 233 236 2-s2.0-77749285781 10.1107/S1744309109054645
-
(2010)
Acta Crystallographica F
, vol.66
, Issue.3
, pp. 233-236
-
-
Djordjevic, S.1
Zhang, X.2
Bartlam, M.3
Ye, S.4
Rao, Z.5
Danpure, C.J.6
-
50
-
-
77949881802
-
Structure of GroEL in complex with an early folding intermediate of alanine glyoxylate aminotransferase
-
2-s2.0-77949881802 10.1074/jbc.M109.062471
-
Albert A., Yunta C., Arranz R., Peña A., Salido E., Valpuesta J. M., Martín-Benito J., Structure of GroEL in complex with an early folding intermediate of alanine glyoxylate aminotransferase. The Journal of Biological Chemistry 2010 285 9 6371 6376 2-s2.0-77949881802 10.1074/jbc.M109.062471
-
(2010)
The Journal of Biological Chemistry
, vol.285
, Issue.9
, pp. 6371-6376
-
-
Albert, A.1
Yunta, C.2
Arranz, R.3
Peña, A.4
Salido, E.5
Valpuesta, J.M.6
Martín-Benito, J.7
-
51
-
-
39349083915
-
Adapting proteostasis for disease intervention
-
DOI 10.1126/science.1141448
-
Balch W. E., Morimoto R. I., Dillin A., Kelly J. W., Adapting proteostasis for disease intervention. Science 2008 319 5865 916 919 2-s2.0-39349083915 10.1126/science.1141448 (Pubitemid 351263754)
-
(2008)
Science
, vol.319
, Issue.5865
, pp. 916-919
-
-
Balch, W.E.1
Morimoto, R.I.2
Dillin, A.3
Kelly, J.W.4
-
52
-
-
67650410543
-
Biological and chemical approaches to diseases of proteostasis deficiency
-
2-s2.0-67650410543 10.1146/annurev.biochem.052308.114844
-
Powers E. T., Morimoto R. I., Dillin A., Kelly J. W., Balch W. E., Biological and chemical approaches to diseases of proteostasis deficiency. Annual Review of Biochemistry 2009 78 959 991 2-s2.0-67650410543 10.1146/annurev.biochem.052308.114844
-
(2009)
Annual Review of Biochemistry
, vol.78
, pp. 959-991
-
-
Powers, E.T.1
Morimoto, R.I.2
Dillin, A.3
Kelly, J.W.4
Balch, W.E.5
-
53
-
-
79960652801
-
Molecular chaperones in protein folding and proteostasis
-
2-s2.0-79960652801 10.1038/nature10317
-
Hartl F. U., Bracher A., Hayer-Hartl M., Molecular chaperones in protein folding and proteostasis. Nature 2011 475 7356 324 332 2-s2.0-79960652801 10.1038/nature10317
-
(2011)
Nature
, vol.475
, Issue.7356
, pp. 324-332
-
-
Hartl, F.U.1
Bracher, A.2
Hayer-Hartl, M.3
-
54
-
-
44849094781
-
Proteotoxic stress and inducible chaperone networks in neurodegenerative disease and aging
-
DOI 10.1101/gad.1657108
-
Morimoto R. I., Proteotoxic stress and inducible chaperone networks in neurodegenerative disease and aging. Genes and Development 2008 22 11 1427 1438 2-s2.0-44849094781 10.1101/gad.1657108 (Pubitemid 351793077)
-
(2008)
Genes and Development
, vol.22
, Issue.11
, pp. 1427-1438
-
-
Morimoto, R.I.1
-
55
-
-
78649899924
-
Human liver peroxisomal alanine: Glyoxylate aminotransferase: Different stability under chemical stress of the major allele, the minor allele, and its pathogenic G170R variant
-
2-s2.0-78650234169 10.1016/j.biochi.2010.08.005
-
Cellini B., Lorenzetto A., Montioli R., Oppici E., Voltattorni C. B., 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 12 1801 1811 2-s2.0-78650234169 10.1016/j.biochi.2010.08.005
-
(2010)
Biochimie
, vol.92
, Issue.12
, pp. 1801-1811
-
-
Cellini, B.1
Lorenzetto, A.2
Montioli, R.3
Oppici, E.4
Voltattorni, C.B.5
-
56
-
-
57649183376
-
In vivo and in vitro examination of stability of primary hyperoxaluria-associated human alanine: Glyoxylate aminotransferase
-
2-s2.0-57649183376 10.1074/jbc.M803525200
-
Hopper E. D., Pittman A. M. C., Fitzgerald M. C., Tucker C. L., In vivo and in vitro examination of stability of primary hyperoxaluria-associated human alanine:glyoxylate aminotransferase. The Journal of Biological Chemistry 2008 283 45 30493 30502 2-s2.0-57649183376 10.1074/jbc.M803525200
-
(2008)
The Journal of Biological Chemistry
, vol.283
, Issue.45
, pp. 30493-30502
-
-
Hopper, E.D.1
Pittman, A.M.C.2
Fitzgerald, M.C.3
Tucker, C.L.4
-
57
-
-
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
-
2-s2.0-84855247358 10.1007/s00726-010-0801-2
-
Pey A. L., Salido E., Sanchez-Ruiz J. M., 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 5 1233 1245 2-s2.0-84855247358 10.1007/s00726-010-0801-2
-
(2011)
Amino Acids
, vol.41
, Issue.5
, pp. 1233-1245
-
-
Pey, A.L.1
Salido, E.2
Sanchez-Ruiz, J.M.3
-
58
-
-
15744378364
-
Overexpression of human alanine: Glyoxylate aminotransferase in Escherichia coli: Renaturation from guanidine-HCl and affinity for pyridoxal phosphate co-factor
-
DOI 10.1016/j.pep.2004.11.004
-
Coulter-Mackie M. B., Lian Q., Wong S. G., Overexpression of human alanine:glyoxylate aminotransferase in Escherichia coli: renaturation from guanidine-HCl and affinity for pyridoxal phosphate co-factor. Protein Expression and Purification 2005 41 1 18 26 2-s2.0-15744378364 10.1016/j.pep.2004.11.004 (Pubitemid 40406359)
-
(2005)
Protein Expression and Purification
, vol.41
, Issue.1
, pp. 18-26
-
-
Coulter-Mackie, M.B.1
Lian, Q.2
Wong, S.G.3
-
59
-
-
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
-
2-s2.0-84855340861 10.1016/j.ymgme.2011.09.033
-
Oppici E., Montioli R., Lorenzetto A., Bianconi S., Voltattorni C. B., 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. Molecular Genetics and Metabolism 2012 105 1 132 140 2-s2.0-84855340861 10.1016/j.ymgme.2011.09.033
-
(2012)
Molecular Genetics and Metabolism
, vol.105
, Issue.1
, pp. 132-140
-
-
Oppici, E.1
Montioli, R.2
Lorenzetto, A.3
Bianconi, S.4
Voltattorni, C.B.5
Cellini, B.6
-
60
-
-
84869077214
-
Rapid profiling of disease alleles using a tunable reporter of protein misfolding
-
10.1534/genetics.112.143750
-
Pittman A. M., Lage M. D., Poltoratsky V., Vrana J. D., Paiardini A., Roncador A., Cellini B., Hughes R. M., Tucker C. L., Rapid profiling of disease alleles using a tunable reporter of protein misfolding. Genetics 2012 192 3 831 842 10.1534/genetics.112.143750
-
(2012)
Genetics
, vol.192
, Issue.3
, pp. 831-842
-
-
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
-
61
-
-
77951977004
-
Protein kinetic stability
-
2-s2.0-77951977004 10.1016/j.bpc.2010.02.004
-
Sanchez-Ruiz J. M., Protein kinetic stability. Biophysical Chemistry 2010 148 1-3 1 15 2-s2.0-77951977004 10.1016/j.bpc.2010.02.004
-
(2010)
Biophysical Chemistry
, vol.148
, Issue.1-3
, pp. 1-15
-
-
Sanchez-Ruiz, J.M.1
-
62
-
-
67649732393
-
Molecular insight into the synergism between the minor allele of human liver peroxisomal alanine: Glyoxylate aminotransferase and the F1521 mutation
-
2-s2.0-67649732393 10.1074/jbc.M808965200
-
Cellini B., Montioli R., Paiardini A., Lorenzetto A., Voltattorni C. B., Molecular insight into the synergism between the minor allele of human liver peroxisomal alanine:glyoxylate aminotransferase and the F1521 mutation. The Journal of Biological Chemistry 2009 284 13 8349 8358 2-s2.0-67649732393 10.1074/jbc.M808965200
-
(2009)
The Journal of Biological Chemistry
, vol.284
, Issue.13
, pp. 8349-8358
-
-
Cellini, B.1
Montioli, R.2
Paiardini, A.3
Lorenzetto, A.4
Voltattorni, C.B.5
-
63
-
-
17744370337
-
Pyridoxine effect in type I primary hyperoxaluria is associated with the most common mutant allele
-
DOI 10.1111/j.1523-1755.2005.00267.x
-
Monico C. G., Rossetti S., Olson J. B., Milliner D. S., Pyridoxine effect in type I primary hyperoxaluria is associated with the most common mutant allele. Kidney International 2005 67 5 1704 1709 2-s2.0-17744370337 10.1111/j.1523-1755.2005.00267.x (Pubitemid 40577704)
-
(2005)
Kidney International
, vol.67
, Issue.5
, pp. 1704-1709
-
-
Monico, C.G.1
Rossetti, S.2
Olson, J.B.3
Milliner, D.S.4
-
64
-
-
3242779378
-
Clinical implications of mutation analysis in primary hyperoxaluria type 1
-
DOI 10.1111/j.1523-1755.2004.00796.x
-
van Woerden C. S., Groothoff J. W., Wijburg F. A., Annink C., Wanders R. J. A., Waterham H. R., Clinical implications of mutation analysis in primary hyperoxaluria type 1. Kidney International 2004 66 2 746 752 2-s2.0-3242779378 10.1111/j.1523-1755.2004.00796.x (Pubitemid 38982018)
-
(2004)
Kidney International
, vol.66
, Issue.2
, pp. 746-752
-
-
Van Woerden, C.S.1
Groothoff, J.W.2
Wijburg, F.A.3
Annink, C.4
Wanders, R.J.A.5
Waterham, H.R.6
-
65
-
-
80054681001
-
Vitamin B6 salvage enzymes: Mechanism, structure and regulation
-
2-s2.0-80054681001 10.1016/j.bbapap.2010.12.006
-
di Salvo M. L., Contestabile R., Safo M. K., Vitamin B6 salvage enzymes: mechanism, structure and regulation. Biochimica et Biophysica Acta 2011 1814 11 1597 1608 2-s2.0-80054681001 10.1016/j.bbapap.2010.12.006
-
(2011)
Biochimica et Biophysica Acta
, vol.1814
, Issue.11
, pp. 1597-1608
-
-
Di Salvo, M.L.1
Contestabile, R.2
Safo, M.K.3
-
66
-
-
6344285316
-
Probing the high energy states in proteins by proteolysis
-
DOI 10.1016/j.jmb.2004.08.085, PII S002228360401085X
-
Park C., Marqusee S., Probing the high energy states in proteins by proteolysis. Journal of Molecular Biology 2004 343 5 1467 1476 2-s2.0-6344285316 10.1016/j.jmb.2004.08.085 (Pubitemid 39387837)
-
(2004)
Journal of Molecular Biology
, vol.343
, Issue.5
, pp. 1467-1476
-
-
Park, C.1
Marqusee, S.2
-
67
-
-
33750628757
-
Consequences of missense mutations for dimerization and turnover of alanine: Glyoxylate aminotransferase: Study of a spectrum of mutations
-
DOI 10.1016/j.ymgme.2006.07.013, PII S1096719206002794
-
Coulter-Mackie M. B., Lian Q., Consequences of missense mutations for dimerization and turnover of alanine:glyoxylate aminotransferase: study of a spectrum of mutations. Molecular Genetics and Metabolism 2006 89 4 349 359 2-s2.0-33750628757 10.1016/j.ymgme.2006.07.013 (Pubitemid 44692542)
-
(2006)
Molecular Genetics and Metabolism
, vol.89
, Issue.4
, pp. 349-359
-
-
Coulter-Mackie, M.B.1
Lian, Q.2
-
68
-
-
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
-
2-s2.0-44649134535 10.1016/j.ymgme.2008.03.010
-
Coulter-Mackie M. B., 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. Molecular Genetics and Metabolism 2008 94 3 368 374 2-s2.0-44649134535 10.1016/j.ymgme.2008.03.010
-
(2008)
Molecular Genetics and Metabolism
, vol.94
, Issue.3
, pp. 368-374
-
-
Coulter-Mackie, M.B.1
Lian, Q.2
-
69
-
-
77949607255
-
Proteolytic scanning calorimetry: A novel methodology that probes the fundamental features of protein kinetic stability
-
2-s2.0-77949607255 10.1016/j.bpj.2009.11.028
-
Tur-Arlandis G., Rodriguez-Larrea D., Ibarra-Molero B., Sanchez-Ruiz J. M., Proteolytic scanning calorimetry: a novel methodology that probes the fundamental features of protein kinetic stability. Biophysical Journal 2010 98 6 L12 L14 2-s2.0-77949607255 10.1016/j.bpj.2009.11.028
-
(2010)
Biophysical Journal
, vol.98
, Issue.6
-
-
Tur-Arlandis, G.1
Rodriguez-Larrea, D.2
Ibarra-Molero, B.3
Sanchez-Ruiz, J.M.4
-
70
-
-
0031127316
-
Variable peroxisomal and mitochondrial targeting of alanine: Glyoxylate aminotransferase in mammalian evolution and disease
-
Danpure C. J., Variable peroxisomal and mitochondrial targeting of alanine: glyoxylate aminotransferase in mammalian evolution and disease. BioEssays 1997 19 4 317 326 2-s2.0-0031127316 (Pubitemid 27176925)
-
(1997)
BioEssays
, vol.19
, Issue.4
, pp. 317-326
-
-
Danpure, C.J.1
-
71
-
-
0037127248
-
Molecular basis for the dual mitochondrial and cytosolic localization of alanine: Glyoxylate aminotransferase in amphibian liver cells
-
DOI 10.1074/jbc.M107047200
-
Holbrook J. D., Danpure C. J., Molecular basis for the dual mitochondrial and cytosolic localization of alanine:glyoxylate aminotransferase in amphibian liver cells. The Journal of Biological Chemistry 2002 277 3 2336 2344 2-s2.0-0037127248 10.1074/jbc.M107047200 (Pubitemid 34968821)
-
(2002)
Journal of Biological Chemistry
, vol.277
, Issue.3
, pp. 2336-2344
-
-
Holbrook, J.D.1
Danpure, C.J.2
-
72
-
-
22844441403
-
A comparative analysis of the evolutionary relationship between diet and enzyme targeting in bats, marsupials and other mammals
-
DOI 10.1098/rspb.2004.3011
-
Birdsey G. M., Lewin J., Holbrook J. D., Simpson V. R., Cunningham A. A., Danpure C. J., A comparative analysis of the evolutionary relationship between diet and enzyme targeting in bats, marsupials and other mammals. Proceedings of the Royal Society B 2005 272 1565 833 840 2-s2.0-22844441403 10.1098/rspb.2004.3011 (Pubitemid 41411118)
-
(2005)
Proceedings of the Royal Society B: Biological Sciences
, vol.272
, Issue.1565
, pp. 833-840
-
-
Birdsey, G.M.1
Lewin, J.2
Holbrook, J.D.3
Simpson, V.R.4
Cunningham, A.A.5
Danpure, C.J.6
-
73
-
-
84873861596
-
Four of the most common mutations in primary hyperoxaluria type 1 unmask the cryptic mitochondrial targeting sequence of alanine: Glyoxylate aminotransferase encoded by the polymorphic minor allele
-
10.1074/jbc.M112.432617
-
Fargue S., Lewin J., Rumsby G., Danpure C. J., Four of the most common mutations in primary hyperoxaluria type 1 unmask the cryptic mitochondrial targeting sequence of alanine:glyoxylate aminotransferase encoded by the polymorphic minor allele. The Journal of Biological Chemistry 2013 288 4 2475 2484 10.1074/jbc.M112.432617
-
(2013)
The Journal of Biological Chemistry
, vol.288
, Issue.4
, pp. 2475-2484
-
-
Fargue, S.1
Lewin, J.2
Rumsby, G.3
Danpure, C.J.4
-
74
-
-
0025746324
-
Mistargeting of peroxisomal L-alanine: Glyoxylate aminotransferase to mitochondria in primary hyperoxaluria patients depends upon activation of a cryptic mitochondrial targeting sequence by a point mutation
-
Purdue P. E., Allsop J., Isaya G., Rosenberg L. E., Danpure C. J., Mistargeting of peroxisomal L-alanine:glyoxylate aminotransferase to mitochondria in primary hyperoxaluria patients depends upon activation of a cryptic mitochondrial targeting sequence by a point mutation. Proceedings of the National Academy of Sciences of the United States of America 1991 88 23 10900 10904 2-s2.0-0025746324 (Pubitemid 21915946)
-
(1991)
Proceedings of the National Academy of Sciences of the United States of America
, vol.88
, Issue.23
, pp. 10900-10904
-
-
Purdue, P.E.1
Allsop, J.2
Isaya, G.3
Rosenberg, L.E.4
Danpure, C.J.5
-
75
-
-
0030781431
-
Active unfolding of precursor proteins during mitochondrial protein import
-
Matouschek A., Azem A., Ratliff K., Glick B. S., Schmid K., Schatz G., Active unfolding of precursor proteins during mitochondrial protein import. EMBO Journal 1997 16 22 6727 6736 2-s2.0-0030781431 (Pubitemid 27503485)
-
(1997)
EMBO Journal
, vol.16
, Issue.22
, pp. 6727-6736
-
-
Matouschek, A.1
Azem, A.2
Ratliff, K.3
Glick, B.S.4
Schmid, K.5
Schatz, G.6
-
76
-
-
27344456466
-
Effect of protein structure on mitochondrial import
-
DOI 10.1073/pnas.0507324102
-
Wilcox A. J., Choy J., Bustamante C., Matouschek A., Effect of protein structure on mitochondrial import. Proceedings of the National Academy of Sciences of the United States of America 2005 102 43 15435 15440 2-s2.0-27344456466 10.1073/pnas.0507324102 (Pubitemid 41528075)
-
(2005)
Proceedings of the National Academy of Sciences of the United States of America
, vol.102
, Issue.43
, pp. 15435-15440
-
-
Wilcox, A.J.1
Choy, J.2
Bustamante, C.3
Matouschek, A.4
-
77
-
-
0037428164
-
Molecular chaperones Hsp90 and Hsp70 deliver preproteins to the mitochondrial import receptor Tom70
-
DOI 10.1016/S0092-8674(02)01250-3
-
Young J. C., Hoogenraad N. J., Hartl F. U., Molecular chaperones Hsp90 and Hsp70 deliver preproteins to the mitochondrial import receptor Tom70. Cell 2003 112 1 41 50 2-s2.0-0037428164 10.1016/S0092-8674(02)01250-3 (Pubitemid 36106417)
-
(2003)
Cell
, vol.112
, Issue.1
, pp. 41-50
-
-
Young, J.C.1
Hoogenraad, N.J.2
Hartl, F.U.3
-
78
-
-
70450273073
-
Roles of Tom70 in import of presequence-containing mitochondrial proteins
-
2-s2.0-70450273073 10.1074/jbc.M109.041756
-
Yamamoto H., Fukui K., Takahashi H., Kitamura S., Shiota T., Terao K., Uchida M., Esaki M., Nishikawa S., Yoshihisa T., Yamano K., Endo T., Roles of Tom70 in import of presequence-containing mitochondrial proteins. The Journal of Biological Chemistry 2009 284 46 31635 31646 2-s2.0-70450273073 10.1074/jbc.M109.041756
-
(2009)
The Journal of Biological Chemistry
, vol.284
, Issue.46
, pp. 31635-31646
-
-
Yamamoto, H.1
Fukui, K.2
Takahashi, H.3
Kitamura, S.4
Shiota, T.5
Terao, K.6
Uchida, M.7
Esaki, M.8
Nishikawa, S.9
Yoshihisa, T.10
Yamano, K.11
Endo, T.12
-
79
-
-
84855478341
-
Fitness trade-offs and environmentally induced mutation buffering in isogenic C. Elegans
-
2-s2.0-84855478341 10.1126/science.1213491
-
Casanueva M. O., Burga A., Lehner B., Fitness trade-offs and environmentally induced mutation buffering in isogenic C. elegans. Science 2012 335 6064 82 85 2-s2.0-84855478341 10.1126/science.1213491
-
(2012)
Science
, vol.335
, Issue.6064
, pp. 82-85
-
-
Casanueva, M.O.1
Burga, A.2
Lehner, B.3
-
80
-
-
66849143696
-
Converging concepts of protein folding in vitro and in vivo
-
2-s2.0-66849143696 10.1038/nsmb.1591
-
Hartl F. U., Hayer-Hartl M., Converging concepts of protein folding in vitro and in vivo. Nature Structural and Molecular Biology 2009 16 6 574 581 2-s2.0-66849143696 10.1038/nsmb.1591
-
(2009)
Nature Structural and Molecular Biology
, vol.16
, Issue.6
, pp. 574-581
-
-
Hartl, F.U.1
Hayer-Hartl, M.2
-
81
-
-
75749136948
-
Modulation of heat shock transcription factor 1 as a therapeutic target for small molecule intervention in neurodegenerative disease
-
2-s2.0-75749136948 10.1371/journal.pbio.1000291 e1000291
-
Neef D. W., Turski M. L., Thiele D. J., Modulation of heat shock transcription factor 1 as a therapeutic target for small molecule intervention in neurodegenerative disease. PLoS Biology 2010 8 1 2-s2.0-75749136948 10.1371/journal.pbio.1000291 e1000291
-
(2010)
PLoS Biology
, vol.8
, Issue.1
-
-
Neef, D.W.1
Turski, M.L.2
Thiele, D.J.3
-
82
-
-
79954416821
-
Chemical and/or biological therapeutic strategies to ameliorate protein misfolding diseases
-
2-s2.0-79954416821 10.1016/j.ceb.2010.11.002
-
Ong D. S. T., Kelly J. W., Chemical and/or biological therapeutic strategies to ameliorate protein misfolding diseases. Current Opinion in Cell Biology 2011 23 2 231 238 2-s2.0-79954416821 10.1016/j.ceb.2010.11.002
-
(2011)
Current Opinion in Cell Biology
, vol.23
, Issue.2
, pp. 231-238
-
-
Ong, D.S.T.1
Kelly, J.W.2
-
83
-
-
84856089134
-
Small-molecule proteostasis regulators for protein conformational diseases
-
2-s2.0-84856089134 10.1038/nchembio.763
-
Calamini B., Silva M. C., Madoux F., Hutt D. M., Khanna S., Chalfant M. A., Saldanha S. A., Hodder P., Tait B. D., Garza D., Balch W. E., Morimoto R. I., Small-molecule proteostasis regulators for protein conformational diseases. Nature Chemical Biology 2012 8 2 185 196 2-s2.0-84856089134 10.1038/nchembio.763
-
(2012)
Nature Chemical Biology
, vol.8
, Issue.2
, pp. 185-196
-
-
Calamini, B.1
Silva, M.C.2
Madoux, F.3
Hutt, D.M.4
Khanna, S.5
Chalfant, M.A.6
Saldanha, S.A.7
Hodder, P.8
Tait, B.D.9
Garza, D.10
Balch, W.E.11
Morimoto, R.I.12
-
84
-
-
6344250769
-
Protein unfolding in the cell
-
DOI 10.1016/j.tibs.2004.09.011, PII S0968000404002415
-
Prakash S., Matouschek A., Protein unfolding in the cell. Trends in Biochemical Sciences 2004 29 11 593 600 2-s2.0-6344250769 10.1016/j.tibs.2004. 09.011 (Pubitemid 39389079)
-
(2004)
Trends in Biochemical Sciences
, vol.29
, Issue.11
, pp. 593-600
-
-
Prakash, S.1
Matouschek, A.2
-
85
-
-
23144443884
-
Protein quality control: Chaperones culling corrupt conformations
-
DOI 10.1038/ncb0805-736
-
McClellan A. J., Tam S., Kaganovich D., Frydman J., Protein quality control: chaperones culling corrupt conformations. Nature Cell Biology 2005 7 8 736 741 2-s2.0-23144443884 10.1038/ncb0805-736 (Pubitemid 41079041)
-
(2005)
Nature Cell Biology
, vol.7
, Issue.8
, pp. 736-741
-
-
McClellan, A.J.1
Tam, S.2
Kaganovich, D.3
Frydman, J.4
-
86
-
-
77954947810
-
The HSP70 chaperone machinery: J proteins as drivers of functional specificity
-
2-s2.0-77954947810 10.1038/nrm2941
-
Kampinga H. H., Craig E. A., The HSP70 chaperone machinery: J proteins as drivers of functional specificity. Nature Reviews Molecular Cell Biology 2010 11 8 579 592 2-s2.0-77954947810 10.1038/nrm2941
-
(2010)
Nature Reviews Molecular Cell Biology
, vol.11
, Issue.8
, pp. 579-592
-
-
Kampinga, H.H.1
Craig, E.A.2
-
87
-
-
0030035028
-
Urinary volume, water and recurrences in idiopathic calcium nephrolithiasis: A 5-year randomized prospective study
-
DOI 10.1016/S0022-5347(01)66321-3
-
Borghi L., Meschi T., Amato F., Briganti A., Novarini A., Giannini A., Urinary volume, water and recurrences in idiopathic calcium nephrolithiasis: a 5-year randomized prospective study. Journal of Urology 1996 155 3 839 843 2-s2.0-0030035028 10.1016/S0022-5347(01)66321-3 (Pubitemid 26052660)
-
(1996)
Journal of Urology
, vol.155
, Issue.3
, pp. 839-843
-
-
Borghi, L.1
Meschi, T.2
Amato, F.3
Briganti, A.4
Novarini, A.5
Giannini, A.6
-
88
-
-
0014738308
-
The action of pyridoxine in primary hyperoxaluria
-
2-s2.0-0014738308
-
Gibbs D. A., Watts R. W., The action of pyridoxine in primary hyperoxaluria. Clinical science 1970 38 2 277 286 2-s2.0-0014738308
-
(1970)
Clinical Science
, vol.38
, Issue.2
, pp. 277-286
-
-
Gibbs, D.A.1
Watts, R.W.2
-
89
-
-
0021840366
-
The effect of pyridoxine on oxalate dynamics in three cases of primary hyperoxaluria (with glycollic aciduria)
-
Watts R. W. E., Veall N., Purkiss P., Mansell M. A., Haywood E. F., The effect of pyridoxine on oxalate dynamics in three cases of primary hyperoxaluria (with glycollic aciduria). Clinical Science 1985 69 1 87 90 2-s2.0-0021840366 (Pubitemid 15032480)
-
(1985)
Clinical Science
, vol.69
, Issue.1
, pp. 87-90
-
-
Watts, R.W.E.1
Veall, N.2
Purkiss, P.3
-
90
-
-
23944468032
-
Primary hyperoxaluria - The German experience
-
DOI 10.1159/000086358
-
Hoppe B., Latta K., von Schnakenburg C., Kemper M. J., Primary hyperoxaluria-the German experience. The American Journal of Nephrology 2005 25 3 276 281 2-s2.0-23944468032 10.1159/000086358 (Pubitemid 41202751)
-
(2005)
American Journal of Nephrology
, vol.25
, Issue.3
, pp. 276-281
-
-
Hoppe, B.1
Latta, K.2
Von Schnakenburg, C.3
Kemper, M.J.4
-
91
-
-
67349122278
-
The primary hyperoxalurias
-
2-s2.0-67349122278 10.1038/ki.2009.32
-
Hoppe B., Beck B. B., Milliner D. S., The primary hyperoxalurias. Kidney International 2009 75 12 1264 1271 2-s2.0-67349122278 10.1038/ki.2009.32
-
(2009)
Kidney International
, vol.75
, Issue.12
, pp. 1264-1271
-
-
Hoppe, B.1
Beck, B.B.2
Milliner, D.S.3
-
92
-
-
48749132287
-
Identification of pharmacological chaperones as potential therapeutic agents to treat phenylketonuria
-
2-s2.0-48749132287 10.1172/JCI34355
-
Pey A. L., Ying M., Cremades N., Velazquez-Campoy A., Scherer T., Thöny B., Sancho J., Martinez A., Identification of pharmacological chaperones as potential therapeutic agents to treat phenylketonuria. Journal of Clinical Investigation 2008 118 8 2858 2867 2-s2.0-48749132287 10.1172/JCI34355
-
(2008)
Journal of Clinical Investigation
, vol.118
, Issue.8
, pp. 2858-2867
-
-
Pey, A.L.1
Ying, M.2
Cremades, N.3
Velazquez-Campoy, A.4
Scherer, T.5
Thöny, B.6
Sancho, J.7
Martinez, A.8
-
94
-
-
77949272212
-
Structure-based design of kinetic stabilizers that ameliorate the transthyretin amyloidoses
-
2-s2.0-77949272212 10.1016/j.sbi.2009.12.009
-
Connelly S., Choi S., Johnson S. M., Kelly J. W., Wilson I. A., Structure-based design of kinetic stabilizers that ameliorate the transthyretin amyloidoses. Current Opinion in Structural Biology 2010 20 1 54 62 2-s2.0-77949272212 10.1016/j.sbi.2009.12.009
-
(2010)
Current Opinion in Structural Biology
, vol.20
, Issue.1
, pp. 54-62
-
-
Connelly, S.1
Choi, S.2
Johnson, S.M.3
Kelly, J.W.4
Wilson, I.A.5
-
95
-
-
46449109015
-
Structure and energetics of the hydrogen-bonded backbone in protein folding
-
2-s2.0-46449109015 10.1146/annurev.biochem.77.061306.131357
-
Bolen D. W., Rose G. D., Structure and energetics of the hydrogen-bonded backbone in protein folding. Annual Review of Biochemistry 2008 77 339 362 2-s2.0-46449109015 10.1146/annurev.biochem.77.061306.131357
-
(2008)
Annual Review of Biochemistry
, vol.77
, pp. 339-362
-
-
Bolen, D.W.1
Rose, G.D.2
|