-
1
-
-
0002568871
-
α-N-Acetylgalactosaminidase Deficiency: Schindler Disease
-
8th edition. Edited by: Scriver CR, Beaudet AL, Sly WS and Valle D. New York, McGraw-Hill Companies, Inc
-
Desnick RJ, Schindler D: α-N-Acetylgalactosaminidase Deficiency: Schindler Disease. In The Metabolic & Molecular Bases of Inherited Disease Volume 3. 8th edition. Edited by: Scriver CR, Beaudet AL, Sly WS and Valle D. New York, McGraw-Hill Companies, Inc.; 2001:3483-3506.
-
(2001)
The Metabolic & Molecular Bases of Inherited Disease
, vol.3
, pp. 3483-3506
-
-
Desnick, R.J.1
Schindler, D.2
-
2
-
-
0000889058
-
α-Galactosidase A Deficiency: Fabry Disease
-
8th edition. Edited by: Scriver CR, Beaudet AL, Sly WS and Valle D. New York, McGraw-Hill Companies, Inc
-
Desnick RJ, Ioannou YA, Eng CM: α-Galactosidase A Deficiency: Fabry Disease. In The Metabolic & Molecular Bases of Inherited Disease Volume 3. 8th edition. Edited by: Scriver CR, Beaudet AL, Sly WS and Valle D. New York, McGraw-Hill Companies, Inc.; 2001:3733-3774.
-
(2001)
The Metabolic & Molecular Bases of Inherited Disease
, vol.3
, pp. 3733-3774
-
-
Desnick, R.J.1
Ioannou, Y.A.2
Eng, C.M.3
-
3
-
-
0017668535
-
The identification of alpha-galactosidase B from human liver as an alpha-N-acetylgalactosaminidase
-
Dean KJ, Sung SS, Sweeley CC: The identification of alpha-galactosidase B from human liver as an alpha-N-acetylgalactosaminidase. Biochem Biophys Res Commun 1977, 77:1411-1417.
-
(1977)
Biochem. Biophys. Res. Commun.
, vol.77
, pp. 1411-1417
-
-
Dean, K.J.1
Sung, S.S.2
Sweeley, C.C.3
-
4
-
-
0017327590
-
Enzymological properties and immunological characterization of alpha-galactosidase isoenzymes from normal and Fabry human liver
-
Schram AW, Hamers MN, Brouwer-Kelder B, Donker-Koopman WE, Tager JM: Enzymological properties and immunological characterization of alpha-galactosidase isoenzymes from normal and Fabry human liver. Biochim Biophys Acta 1977, 482:125-137.
-
(1977)
Biochim. Biophys. Acta
, vol.482
, pp. 125-137
-
-
Schram, A.W.1
Hamers, M.N.2
Brouwer-Kelder, B.3
Donker-Koopman, W.E.4
Tager, J.M.5
-
5
-
-
0025911151
-
Structural organization and complete sequence of the human alpha-N-acetylgalactosaminidase gene: Homology with the alpha-galactosidase A gene provides evidence for evolution from a common ancestral gene
-
Wang AM, Desnick RJ: Structural organization and complete sequence of the human alpha-N-acetylgalactosaminidase gene: homology with the alpha-galactosidase A gene provides evidence for evolution from a common ancestral gene. Genomics 1991, 10:133-142.
-
(1991)
Genomics
, vol.10
, pp. 133-142
-
-
Wang, A.M.1
Desnick, R.J.2
-
6
-
-
0030733350
-
Structural and sequence-based classification of glycoside hydrolases
-
Henrissat B, Davies G: Structural and sequence-based classification of glycoside hydrolases. Curr Opin Struct Biol 1997, 7:637-644.
-
(1997)
Curr. Opin. Struct. Biol.
, vol.7
, pp. 637-644
-
-
Henrissat, B.1
Davies, G.2
-
7
-
-
0036124422
-
The 1.9 A structure of alpha-N-acetylgalactosaminidase: Molecular basis of glycosidase deficiency diseases
-
Garman SC, Hannick L, Zhu A, Garboczi DN: The 1.9 A structure of alpha-N-acetylgalactosaminidase: molecular basis of glycosidase deficiency diseases. Structure (Camb) 2002, 10:425-434.
-
(2002)
Structure (Camb.)
, vol.10
, pp. 425-434
-
-
Garman, S.C.1
Hannick, L.2
Zhu, A.3
Garboczi, D.N.4
-
8
-
-
1442299241
-
The molecular defect leading to Fabry disease: Structure of human alpha-galactosidase
-
Garman SC, Garboczi DN: The molecular defect leading to Fabry disease: structure of human alpha-galactosidase. J Mol Biol 2004, 337:319-335.
-
(2004)
J. Mol. Biol.
, vol.337
, pp. 319-335
-
-
Garman, S.C.1
Garboczi, D.N.2
-
9
-
-
0037827688
-
Crystal structure of rice alpha-galactosidase complexed with D-galactose
-
Fujimoto Z, Kaneko S, Momma M, Kobayashi H, Mizuno H: Crystal structure of rice alpha-galactosidase complexed with D-galactose. J Biol Chem 2003, 278:20313-20318.
-
(2003)
J. Biol. Chem.
, vol.278
, pp. 20313-20318
-
-
Fujimoto, Z.1
Kaneko, S.2
Momma, M.3
Kobayashi, H.4
Mizuno, H.5
-
10
-
-
0036314833
-
Defects in degradation of blood group A and B glycosphingolipids in Schindler and Fabry diseases
-
Asfaw B, Ledvinova J, Dobrovolny R, Bakker HD, Desnick RJ, van Diggelen OP, de Jong JG, Kanzaki T, Chabas A, Maire I, Conzelmann E, Schindler D: Defects in degradation of blood group A and B glycosphingolipids in Schindler and Fabry diseases. J Lipid Res 2002, 43:1096-1104.
-
(2002)
J. Lipid Res.
, vol.43
, pp. 1096-1104
-
-
Asfaw, B.1
Ledvinova, J.2
Dobrovolny, R.3
Bakker, H.D.4
Desnick, R.J.5
van Diggelen, O.P.6
de Jong, J.G.7
Kanzaki, T.8
Chabas, A.9
Maire, I.10
Conzelmann, E.11
Schindler, D.12
-
11
-
-
0018574526
-
Studies on human liver alpha-galactosidases. II. Purification and enzymatic properties of alpha-galactosidase B (alpha-N-acetylgalactosaminidase)
-
Dean KJ, Sweeley CC: Studies on human liver alpha-galactosidases. II. Purification and enzymatic properties of alpha-galactosidase B (alpha-N-acetylgalactosaminidase). J Biol Chem 1979, 254:10001-10005.
-
(1979)
J. Biol. Chem.
, vol.254
, pp. 10001-10005
-
-
Dean, K.J.1
Sweeley, C.C.2
-
13
-
-
0019464277
-
Differential assay for lysosomal alpha-galactosidases in human tissues and its application to Fabry's disease
-
Mayes JS, Scheerer JB, Sifers RN, Donaldson ML: Differential assay for lysosomal alpha-galactosidases in human tissues and its application to Fabry's disease. Clin Chim Acta 1981, 112:247-251.
-
(1981)
Clin. Chim. Acta
, vol.112
, pp. 247-251
-
-
Mayes, J.S.1
Scheerer, J.B.2
Sifers, R.N.3
Donaldson, M.L.4
-
14
-
-
0032509302
-
Genome sequence of the nematode C. elegans: A platform for investigating biology. The C. elegans Sequencing Consortium
-
Genome sequence of the nematode C. elegans: a platform for investigating biology. The C. elegans Sequencing Consortium. Science 1998, 282:2012-2018.
-
(1998)
Science
, vol.282
, pp. 2012-2018
-
-
-
15
-
-
25444474929
-
-
Wormbase
-
Wormbase [http://www.wormbase.org/]
-
-
-
-
16
-
-
25444436907
-
-
The C. elegans ORFeome cloning project
-
The C. elegans ORFeome cloning project [http://worfdb.dfci.harvard.edu/]
-
-
-
-
17
-
-
0029443159
-
Transcription and Translation
-
1st edition. Edited by: Epstein HF and Shakes DC. San Diego, Academic Press, Inc
-
Krause M: Transcription and Translation. In Caenorhabditis elegans: Modern Biological Analysis of an Organism Volume 48. 1st edition. Edited by: Epstein HF and Shakes DC. San Diego, Academic Press, Inc.; 1995:483-512.
-
(1995)
Caenorhabditis Elegans: Modern Biological Analysis of an Organism
, vol.48
, pp. 483-512
-
-
Krause, M.1
-
18
-
-
0036844140
-
Widespread organisation of C. elegans genes into operons: Fact or function?
-
Nimmo R, Woollard A: Widespread organisation of C. elegans genes into operons: fact or function? Bioessays 2002, 24:983-987.
-
(2002)
Bioessays
, vol.24
, pp. 983-987
-
-
Nimmo, R.1
Woollard, A.2
-
19
-
-
0037306139
-
Caenorhabditis elegans operons: Form and function
-
Blumenthal T, Gleason KS: Caenorhabditis elegans operons: form and function. Nat Rev Genet 2003, 4:112-120.
-
(2003)
Nat. Rev. Genet.
, vol.4
, pp. 112-120
-
-
Blumenthal, T.1
Gleason, K.S.2
-
20
-
-
0037219559
-
Recombinant enzyme therapy for Fabry disease: Absence of editing of human alpha-galactosidase A mRNA
-
Blom D, Speijer D, Linthorst GE, Donker-Koopman WG, Strijland A, Aerts JM: Recombinant enzyme therapy for Fabry disease: absence of editing of human alpha-galactosidase A mRNA. Am J Hum Genet 2003, 72:23-31.
-
(2003)
Am. J. Hum. Genet.
, vol.72
, pp. 23-31
-
-
Blom, D.1
Speijer, D.2
Linthorst, G.E.3
Donker-Koopman, W.G.4
Strijland, A.5
Aerts, J.M.6
-
21
-
-
0030716471
-
Comparable rates of gene loss and functional divergence after genome duplications early in vertebrate evolution
-
Nadeau JH, Sankoff D: Comparable rates of gene loss and functional divergence after genome duplications early in vertebrate evolution. Genetics 1997, 147:1259-1266.
-
(1997)
Genetics
, vol.147
, pp. 1259-1266
-
-
Nadeau, J.H.1
Sankoff, D.2
-
22
-
-
0024286827
-
Proteases of the nematode Caenorhabditis elegans
-
Sarkis GJ, Kurpiewski MR, Ashcom JD, Jen-Jacobson L, Jacobson LA: Proteases of the nematode Caenorhabditis elegans. Arch Biochem Biophys 1988, 261:80-90.
-
(1988)
Arch. Biochem. Biophys.
, vol.261
, pp. 80-90
-
-
Sarkis, G.J.1
Kurpiewski, M.R.2
Ashcom, J.D.3
Jen-Jacobson, L.4
Jacobson, L.A.5
-
23
-
-
0022690195
-
Beta-glucuronidase mutants of the nematode Caenorhabditis elegans
-
Sebastiano M, D'Alessio M, Bazzicalupo P: Beta-glucuronidase mutants of the nematode Caenorhabditis elegans. Genetics 1986, 112:459-468.
-
(1986)
Genetics
, vol.112
, pp. 459-468
-
-
Sebastiano, M.1
D'Alessio, M.2
Bazzicalupo, P.3
-
24
-
-
0031563137
-
Lysosomal biogenesis in lysosomal storage disorders
-
Karageorgos LE, Isaac EL, Brooks DA, Ravenscroft EM, Davey R, Hopwood JJ, Meikle PJ: Lysosomal biogenesis in lysosomal storage disorders. Exp Cell Res 1997, 234:85-97.
-
(1997)
Exp. Cell Res.
, vol.234
, pp. 85-97
-
-
Karageorgos, L.E.1
Isaac, E.L.2
Brooks, D.A.3
Ravenscroft, E.M.4
Davey, R.5
Hopwood, J.J.6
Meikle, P.J.7
-
26
-
-
0035229245
-
Effectiveness of specific RNA-mediated interference through ingested double-stranded RNA in Caenorhabditis elegans
-
Kamath RS, Martinez-Campos M, Zipperlen P, Fraser AG, Ahringer J: Effectiveness of specific RNA-mediated interference through ingested double-stranded RNA in Caenorhabditis elegans. Genome Biol 2000, 2:.
-
(2000)
Genome Biol.
, vol.2
-
-
Kamath, R.S.1
Martinez-Campos, M.2
Zipperlen, P.3
Fraser, A.G.4
Ahringer, J.5
-
27
-
-
0033874081
-
Identification and molecular-genetic characterization of a LAMP/CD68-like protein from Caenorhabditis elegans
-
Kostich M, Fire A, Fambrough DM: Identification and molecular-genetic characterization of a LAMP/CD68-like protein from Caenorhabditis elegans. J Cell Sci 2000, 113:2595-2606.
-
(2000)
J. Cell Sci.
, vol.113
, pp. 2595-2606
-
-
Kostich, M.1
Fire, A.2
Fambrough, D.M.3
-
28
-
-
0035031192
-
Regulation of endocytosis by CUP-5, the Caenorhabditis elegans mucolipin-1 homolog
-
Fares H, Greenwald I: Regulation of endocytosis by CUP-5, the Caenorhabditis elegans mucolipin-1 homolog. Nat Genet 2001, 28:64-68.
-
(2001)
Nat. Genet.
, vol.28
, pp. 64-68
-
-
Fares, H.1
Greenwald, I.2
-
29
-
-
0031885535
-
Green fluorescent protein as a noninvasive intracellular pH indicator
-
Kneen M, Farinas J, Li Y, Verkman AS: Green fluorescent protein as a noninvasive intracellular pH indicator. Biophys J 1998, 74:1591-1599.
-
(1998)
Biophys. J.
, vol.74
, pp. 1591-1599
-
-
Kneen, M.1
Farinas, J.2
Li, Y.3
Verkman, A.S.4
-
30
-
-
0029443103
-
DNA transformation
-
1st edition. Edited by: Epstein HF and Shakes DC. San Diego, Academic Press
-
Mello C, Fire A: DNA transformation. In Caenorhabditis elegans: Modern Biological Analysis of an Organism Volume 48. 1st edition. Edited by: Epstein HF and Shakes DC. San Diego, Academic Press; 1995:451-481.
-
(1995)
Caenorhabditis Elegans: Modern Biological Analysis of an Organism
, vol.48
, pp. 451-481
-
-
Mello, C.1
Fire, A.2
-
31
-
-
0022348755
-
Extrachromosomal DNA transformation of Caenorhabditis elegans
-
Stinchcomb DT, Shaw JE, Carr SH, Hirsh D: Extrachromosomal DNA transformation of Caenorhabditis elegans. Mol Cell Biol 1985, 5:3484-3496.
-
(1985)
Mol. Cell Biol.
, vol.5
, pp. 3484-3496
-
-
Stinchcomb, D.T.1
Shaw, J.E.2
Carr, S.H.3
Hirsh, D.4
-
32
-
-
0022585682
-
The autofluorescent "lipofuscin granules" in the intestinal cells of Caenorhabditis elegans are secondary lysosomes
-
Clokey GV, Jacobson LA: The autofluorescent "lipofuscin granules" in the intestinal cells of Caenorhabditis elegans are secondary lysosomes. Mech Ageing Dev 1986, 35:79-94.
-
(1986)
Mech. Ageing Dev.
, vol.35
, pp. 79-94
-
-
Clokey, G.V.1
Jacobson, L.A.2
-
33
-
-
0019866088
-
Effect of weak bases on the intralysosomal pH in mouse peritoneal macrophages
-
Poole B, Ohkuma S: Effect of weak bases on the intralysosomal pH in mouse peritoneal macrophages. J Cell Biol 1981, 90:665-669.
-
(1981)
J. Cell Biol.
, vol.90
, pp. 665-669
-
-
Poole, B.1
Ohkuma, S.2
-
34
-
-
0036462411
-
pH Homeostasis of cellular organelles
-
Demaurex N: pH Homeostasis of cellular organelles. News Physiol Sci 2002, 17:1-5.
-
(2002)
News Physiol. Sci.
, vol.17
, pp. 1-5
-
-
Demaurex, N.1
-
35
-
-
0016063911
-
The genetics of Caenorhabditis elegans
-
Brenner S: The genetics of Caenorhabditis elegans. Genetics 1974, 77:71-94.
-
(1974)
Genetics
, vol.77
, pp. 71-94
-
-
Brenner, S.1
-
36
-
-
0025942107
-
Efficient gene transfer in C.elegans: Extrachromosomal maintenance and integration of transforming sequences
-
Mello CC, Kramer JM, Stinchcomb D, Ambros V: Efficient gene transfer in C.elegans: extrachromosomal maintenance and integration of transforming sequences. Embo J 1991, 10:3959-3970.
-
(1991)
Embo. J.
, vol.10
, pp. 3959-3970
-
-
Mello, C.C.1
Kramer, J.M.2
Stinchcomb, D.3
Ambros, V.4
-
37
-
-
0032545933
-
Potent and specific genetic interference by double-stranded RNA in Caenorhabditis elegans
-
Fire A, Xu S, Montgomery MK, Kostas SA, Driver SE, Mello CC: Potent and specific genetic interference by double-stranded RNA in Caenorhabditis elegans. Nature 1998, 391:806-811.
-
(1998)
Nature
, vol.391
, pp. 806-811
-
-
Fire, A.1
Xu, S.2
Montgomery, M.K.3
Kostas, S.A.4
Driver, S.E.5
Mello, C.C.6
-
38
-
-
25444473860
-
-
WormBase Release WS100
-
WormBase Release WS100 [http://ws100.wormbase.org]
-
-
-
-
39
-
-
25444459060
-
-
WormBase Release WS110
-
WormBase Release WS110 [http://ws110.wormbase.org]
-
-
-
-
40
-
-
25444456599
-
-
Wormbase BLAST or BLAT Search
-
Wormbase BLAST or BLAT Search [http://www.wormbase.org/db/searches/blat]
-
-
-
-
41
-
-
25444450720
-
-
GenBank
-
GenBank [http://www.ncbi.nlm.nih.gov/Genbank/index.html]
-
-
-
-
42
-
-
0023277545
-
Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction
-
Chomczynski P, Sacchi N: Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal Biochem 1987, 162:156-159.
-
(1987)
Anal. Biochem.
, vol.162
, pp. 156-159
-
-
Chomczynski, P.1
Sacchi, N.2
-
43
-
-
25444520978
-
-
Protein families database of alignments and HMMs
-
Protein families database of alignments and HMMs [http://www.sanger.ac.uk/Software/Pfam]
-
-
-
-
44
-
-
0027968068
-
CLUSTAL W: Improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice
-
Thompson JD, Higgins DG, Gibson TJ: CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice. Nucleic Acids Res 1994, 22:4673-4680.
-
(1994)
Nucleic Acids Res.
, vol.22
, pp. 4673-4680
-
-
Thompson, J.D.1
Higgins, D.G.2
Gibson, T.J.3
-
45
-
-
25444475447
-
-
Swiss-Prot / TrEMBL database
-
Swiss-Prot / TrEMBL database [http://www.expasy.org/sprot/]
-
-
-
-
46
-
-
0000122573
-
PHYLIP - Phylogeny Inference Package (Version 3.2)
-
Felsenstein J: PHYLIP - Phylogeny Inference Package (Version 3.2). Cladistics 1988, 5:164-166.
-
(1988)
Cladistics
, vol.5
, pp. 164-166
-
-
Felsenstein, J.1
-
47
-
-
0000461280
-
Confidence-Limits on Phylogenies - An Approach Using the Bootstrap
-
Felsenstein J: Confidence-Limits on Phylogenies - an Approach Using the Bootstrap. Evolution 1985, 39:783-791.
-
(1985)
Evolution
, vol.39
, pp. 783-791
-
-
Felsenstein, J.1
-
48
-
-
0014757386
-
A general method applicable to the search for similarities in the amino acid sequence of two proteins
-
Needleman SB, Wunsch CD: A general method applicable to the search for similarities in the amino acid sequence of two proteins. J Mol Biol 1970, 48:443-453.
-
(1970)
J. Mol. Biol.
, vol.48
, pp. 443-453
-
-
Needleman, S.B.1
Wunsch, C.D.2
-
49
-
-
0034201441
-
EMBOSS: The European molecular biology open software suite
-
Rice P, Longden I, Bleasby A: EMBOSS: The European molecular biology open software suite. Trends in Genetics 2000, 16:276-277.
-
(2000)
Trends in Genetics
, vol.16
, pp. 276-277
-
-
Rice, P.1
Longden, I.2
Bleasby, A.3
-
50
-
-
3042521098
-
Improved prediction of signal peptides: SignalP 3.0
-
Bendtsen JD, Nielsen H, von Heijne G, Brunak S: Improved prediction of signal peptides: SignalP 3.0. J Mol Biol 2004, 340:783-795.
-
(2004)
J. Mol. Biol.
, vol.340
, pp. 783-795
-
-
Bendtsen, J.D.1
Nielsen, H.2
von Heijne, G.3
Brunak, S.4
-
51
-
-
25444527419
-
-
PDB - Protein Data Bank
-
PDB - Protein Data Bank [http://www.rcsb.org/pdb/]
-
-
-
-
52
-
-
0031473847
-
SWISS-MODEL and the Swiss-Pdb-Viewer: An environment for comparative protein modeling
-
Guex N, Peitsch MC: SWISS-MODEL and the Swiss-Pdb-Viewer: an environment for comparative protein modeling. Electrophoresis 1997, 18:2714-2723.
-
(1997)
Electrophoresis
, vol.18
, pp. 2714-2723
-
-
Guex, N.1
Peitsch, M.C.2
-
53
-
-
25444470442
-
-
PovRay software
-
PovRay software [http://www.povray.org/]
-
-
-
-
54
-
-
0027319325
-
Synaptic function is impaired but not eliminated in C. elegans mutants lacking synaptotagmin
-
Nonet ML, Grundahl K, Meyer BJ, Rand JB: Synaptic function is impaired but not eliminated in C. elegans mutants lacking synaptotagmin. Cell 1993, 73:1291-1305.
-
(1993)
Cell
, vol.73
, pp. 1291-1305
-
-
Nonet, M.L.1
Grundahl, K.2
Meyer, B.J.3
Rand, J.B.4
-
55
-
-
0015384891
-
Determination of protein: A modification of the Lowry method that gives a linear photometric response
-
Hartree EF: Determination of protein: a modification of the Lowry method that gives a linear photometric response. Anal Biochem 1972, 48:422-427.
-
(1972)
Anal. Biochem.
, vol.48
, pp. 422-427
-
-
Hartree, E.F.1
-
56
-
-
0000689283
-
Analysis of Proteins
-
1st edition. Edited by: Ausubel FM, Brent R, Kingston RE, Moore DD, Seidman JG, Smith JA and Struhl K. Hoboken, John Wiley & Sons, Inc
-
Gallagher S, Winston SE, Fuller SA, Hurrell JGR: Analysis of Proteins. In Current Protocols in Molecular Biology Volume 2. 1st edition. Edited by: Ausubel FM, Brent R, Kingston RE, Moore DD, Seidman JG, Smith JA and Struhl K. Hoboken, John Wiley & Sons, Inc.; 1997:10.8.
-
(1997)
Current Protocols in Molecular Biology
, vol.2
-
-
Gallagher, S.1
Winston, S.E.2
Fuller, S.A.3
Hurrell, J.G.R.4
|