-
1
-
-
0038623652
-
Intermittent fasting dissociates beneficial effects of dietary restriction on glucose metabolism and neuronal resistance to injury from calorie intake
-
DOI 10.1073/pnas.1035720100
-
Anson RM, Guo Z, de Cabo R et al (2003) Intermittent fasting dissociates beneficial effects of dietary restriction on glucose metabolism and neuronal resistance to injury from calorie intake. Proc Natl Acad Sci U S A 100(10):6216-6220 (Pubitemid 36576956)
-
(2003)
Proceedings of the National Academy of Sciences of the United States of America
, vol.100
, Issue.10
, pp. 6216-6220
-
-
Michael, A.R.1
Guo, Z.2
De Cabo, R.3
Iyun, T.4
Rios, M.5
Hagepanos, A.6
Ingram, D.K.7
Lane, M.A.8
Mattson, M.P.9
-
2
-
-
33748572321
-
Incidence of inborn errors of metabolism in British Columbia, 1969-1996
-
Applegarth DA, Toone JR, Lowry RB (2000) Incidence of inborn errors of metabolism in British Columbia, 1969-1996. Pediatrics 105(1):e10
-
(2000)
Pediatrics
, vol.105
, Issue.1
-
-
Applegarth, D.A.1
Toone, J.R.2
Lowry, R.B.3
-
3
-
-
0030468324
-
Genetic dissection of the retinotectal projection
-
Baier H, Klostermann S, Trowe T, Karlstrom RO, Nüsslein-Volhard C, Bonhoeffer F (1996) Genetic dissection of the retinotectal projection. Development 123:415-425 (Pubitemid 27056766)
-
(1996)
Development
, vol.123
, pp. 415-425
-
-
Baier, H.1
Klostermann, S.2
Trowe, T.3
Karlstrom, R.O.4
Nusslein-Volhard, C.5
Bonhoeffer, F.6
-
5
-
-
80051876867
-
Lessons from morpholino-based screening in zebrafish
-
Bedell VM, Westcot SE, Ekker SC (2011) Lessons from morpholino-based screening in zebrafish. Brief Funct Genom 10(4):181-188
-
(2011)
Brief Funct Genom
, vol.10
, Issue.4
, pp. 181-188
-
-
Bedell, V.M.1
Westcot, S.E.2
Ekker, S.C.3
-
6
-
-
84875135127
-
Characterization and expression analysis of mcoln1.1 and mcoln1.2, the putative zebrafish co-orthologs of the gene responsible for human mucolipidosis type IV
-
Benini A, Bozzato A, Mantovanelli S et al (2013) Characterization and expression analysis of mcoln1.1 and mcoln1.2, the putative zebrafish co-orthologs of the gene responsible for human mucolipidosis type IV. Int J Dev Biol 57(1):85-93
-
(2013)
Int J Dev Biol
, vol.57
, Issue.1
, pp. 85-93
-
-
Benini, A.1
Bozzato, A.2
Mantovanelli, S.3
-
7
-
-
84881551205
-
Use of model organisms for the study of neuronal ceroid lipofuscinosis
-
Bond M, Holthaus SM, Tammen I, Tear G, Russell C (2013) Use of model organisms for the study of neuronal ceroid lipofuscinosis. Biochim Biophys Acta 1832(11):1842-1865
-
(2013)
Biochim Biophys Acta
, vol.1832
, Issue.11
, pp. 1842-1865
-
-
Bond, M.1
Holthaus, S.M.2
Tammen, I.3
Tear, G.4
Russell, C.5
-
8
-
-
77449155155
-
Swimming into the future of drug discovery: In vivo chemical screens in zebrafish
-
Bowman TV, Zon LI (2010) Swimming into the future of drug discovery: in vivo chemical screens in zebrafish. ACS Chem Biol 5(2):159-161
-
(2010)
ACS Chem Biol
, vol.5
, Issue.2
, pp. 159-161
-
-
Bowman, T.V.1
Zon, L.I.2
-
9
-
-
74549181146
-
Phenotype and genotype in mucolipidoses II and III alpha/beta: A study of 61 probands
-
Cathey SS, Leroy JG, Wood T et al (2010) Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands. J Med Genet 47(1):38-48
-
(2010)
J Med Genet
, vol.47
, Issue.1
, pp. 38-48
-
-
Cathey, S.S.1
Leroy, J.G.2
Wood, T.3
-
10
-
-
70349479539
-
Abcb10 physically interacts with mitoferrin-1 (Slc25a37) to enhance its stability and function in the erythroid mitochondria
-
Chen W, Paradkar PN, Li L et al (2009) Abcb10 physically interacts with mitoferrin-1 (Slc25a37) to enhance its stability and function in the erythroid mitochondria. Proc Natl Acad Sci U S A 106(38):16263-16268
-
(2009)
Proc Natl Acad Sci U S a
, vol.106
, Issue.38
, pp. 16263-16268
-
-
Chen, W.1
Paradkar, P.N.2
Li, L.3
-
11
-
-
0034710555
-
Zebrafish dracula encodes ferrochelatase and its mutation provides a model for erythropoietic protoporphyria
-
Childs S, Weinstein BM, Mohideen MA, Donohue S, Bonkovsky H, Fishman MC (2000) Zebrafish dracula encodes ferrochelatase and its mutation provides a model for erythropoietic protoporphyria. Curr Biol 10(16):1001-1004
-
(2000)
Curr Biol
, vol.10
, Issue.16
, pp. 1001-1004
-
-
Childs, S.1
Weinstein, B.M.2
Mohideen, M.A.3
Donohue, S.4
Bonkovsky, H.5
Fishman, M.C.6
-
12
-
-
77957818067
-
Progranulin modulates zebrafish motoneuron development in vivo and rescues truncation defects associated with knockdown of Survival motor neuron 1
-
Chitramuthu BP, Baranowski DC, Kay DG, Bateman A, Bennett HP (2010) Progranulin modulates zebrafish motoneuron development in vivo and rescues truncation defects associated with knockdown of Survival motor neuron 1. Mol Neurodegener 5:41
-
(2010)
Mol Neurodegener
, vol.5
, pp. 41
-
-
Chitramuthu, B.P.1
Baranowski, D.C.2
Kay, D.G.3
Bateman, A.4
Bennett, H.P.5
-
13
-
-
0031960006
-
Maple syrup urine disease: It has come a long way
-
Chuang DT (1998) Maple syrup urine disease: it has come a long way. J Pediatr 132(3 Pt 2):S17-S23
-
(1998)
J Pediatr
, vol.132
, Issue.3 PART 2
-
-
Chuang, D.T.1
-
14
-
-
47949090917
-
Structure-activity relationship study of bone morphogenetic protein (BMP) signaling inhibitors
-
Cuny GD, Yu PB, Laha JK et al (2008) Structure-activity relationship study of bone morphogenetic protein (BMP) signaling inhibitors. Bioorg Med Chem Lett 18(15):4388-4392
-
(2008)
Bioorg Med Chem Lett
, vol.18
, Issue.15
, pp. 4388-4392
-
-
Cuny, G.D.1
Yu, P.B.2
Laha, J.K.3
-
15
-
-
0034486335
-
Ferrochelatase at the millennium: Structures, mechanisms and [2Fe-2S] clusters
-
Dailey HA, Dailey TA, Wu CK et al (2000) Ferrochelatase at the millennium: structures, mechanisms and [2Fe-2S] clusters. Cell Mol Life Sci 57(13-14):1909-1926 (Pubitemid 32102586)
-
(2000)
Cellular and Molecular Life Sciences
, vol.57
, Issue.13-14
, pp. 1909-1926
-
-
Dailey, H.A.1
Dailey, T.A.2
Wu, C.-K.3
Medlock, A.E.4
Rose, J.P.5
Wang, K.-F.6
-
16
-
-
84866386128
-
Efficient shRNA-Mediated Inhibition of Gene Expression in Zebrafish
-
De Rienzo G, Gutzman JH, Sive H (2012) Efficient shRNA-Mediated Inhibition of Gene Expression in Zebrafish. Zebrafish 9(3):97-107
-
(2012)
Zebrafish
, vol.9
, Issue.3
, pp. 97-107
-
-
De Rienzo, G.1
Gutzman, J.H.2
Sive, H.3
-
17
-
-
67650293274
-
Heritable and lineage-specific gene knockdown in zebrafish embryo
-
Dong M, Fu Y-F, Du T-T et al (2009) Heritable and lineage-specific gene knockdown in zebrafish embryo. PLoS One 4(7):e6125
-
(2009)
PLoS One
, vol.4
, Issue.7
-
-
Dong, M.1
Fu, Y.-F.2
Du, T.-T.3
-
18
-
-
0034068307
-
Zebrafish: A model system for the study of human disease
-
DOI 10.1016/S0959-437X(00)00074-5
-
Dooley K, Zon LI (2000) Zebrafish: a model system for the study of human disease. Curr Opin Genet Dev 10(3):252-256 (Pubitemid 30307241)
-
(2000)
Current Opinion in Genetics and Development
, vol.10
, Issue.3
, pp. 252-256
-
-
Dooley, K.1
Zon, L.I.2
-
19
-
-
49649105203
-
montalcino, A zebrafish model for variegate porphyria
-
Dooley KA, Fraenkel PG, Langer NB et al (2008) montalcino, A zebrafish model for variegate porphyria. Exp Hematol 36(9):1132-1142
-
(2008)
Exp Hematol
, vol.36
, Issue.9
, pp. 1132-1142
-
-
Dooley, K.A.1
Fraenkel, P.G.2
Langer, N.B.3
-
20
-
-
12644268233
-
A genetic screen for mutations affecting embryogenesis in zebrafish
-
Driever W, Solnica-Krezel L, Schier AF et al (1996) A genetic screen for mutations affecting embryogenesis in zebrafish. Development 123:37-46 (Pubitemid 27056734)
-
(1996)
Development
, vol.123
, pp. 37-46
-
-
Driever, W.1
Solnica-Krezel, L.2
Schier, A.F.3
Neuhauss, S.C.F.4
Malicki, J.5
Stemple, D.L.6
Stainier, D.Y.R.7
Zwartkruis, F.8
Abdelilah, S.9
Rangini, Z.10
Belak, J.11
Boggs, C.12
-
21
-
-
45549086423
-
Zinc finger-based knockout punches for zebrafish genes
-
Ekker SC (2008) Zinc finger-based knockout punches for zebrafish genes. Zebrafish 5(2):121-123
-
(2008)
Zebrafish
, vol.5
, Issue.2
, pp. 121-123
-
-
Ekker, S.C.1
-
22
-
-
73649091413
-
Altered chondrocyte differentiation and extracellular matrix homeostasis in a zebrafish model for mucolipidosis II
-
Flanagan-Steet H, Sias C, Steet R (2009) Altered chondrocyte differentiation and extracellular matrix homeostasis in a zebrafish model for mucolipidosis II. Am J Pathol 175(5):2063-2075
-
(2009)
Am J Pathol
, vol.175
, Issue.5
, pp. 2063-2075
-
-
Flanagan-Steet, H.1
Sias, C.2
Steet, R.3
-
23
-
-
33745094451
-
Screening for lysosomal storage disorders-a clinical perspective
-
Fletcher JM (2006) Screening for lysosomal storage disorders-a clinical perspective. J Inherit Metab Dis 29(2-3):405-408
-
(2006)
J Inherit Metab Dis
, vol.29
, Issue.2-3
, pp. 405-408
-
-
Fletcher, J.M.1
-
24
-
-
84877759369
-
Knockdown of Cathepsin D in zebrafish fertilized eggs determines congenital myopathy
-
Follo C, Ozzano M, Montalenti C, Santoro MM, Isidoro C (2013) Knockdown of Cathepsin D in zebrafish fertilized eggs determines congenital myopathy. Bioscience Reports 33(2):e00034
-
(2013)
Bioscience Reports
, vol.33
, Issue.2
-
-
Follo, C.1
Ozzano, M.2
Montalenti, C.3
Santoro, M.M.4
Isidoro, C.5
-
25
-
-
79959838540
-
Knock-down of cathepsin D affects the retinal pigment epithelium, impairs swim-bladder ontogenesis and causes premature death in zebrafish
-
Follo C, Ozzano M, Mugoni V, Castino R, Santoro M, Isidoro C (2011) Knock-down of cathepsin D affects the retinal pigment epithelium, impairs swim-bladder ontogenesis and causes premature death in zebrafish. PLoS One 6(7):e21908
-
(2011)
PLoS One
, vol.6
, Issue.7
-
-
Follo, C.1
Ozzano, M.2
Mugoni, V.3
Castino, R.4
Santoro, M.5
Isidoro, C.6
-
26
-
-
0003013226
-
Defects of electron transfer flavoprotein and electron transfer flavoprotein-ubiquinone oxidoreductase: Glutaric acidemia type II
-
Scriver CR, Beaudet AL, Sly WS, Valle D (eds) McGraw-Hill, New York
-
Frerman FE, Goodman SI (2001) Defects of electron transfer flavoprotein and electron transfer flavoprotein-ubiquinone oxidoreductase: glutaric acidemia type II. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease. McGraw-Hill, New York, pp 2357-2365
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 2357-2365
-
-
Frerman, F.E.1
Goodman, S.I.2
-
27
-
-
84858010884
-
Mutation of zebrafish dihydrolipoamide branched-chain transacylase E2 results in motor dysfunction and models maple syrup urine disease
-
Friedrich T, Lambert AM, Masino MA, Downes GB (2012) Mutation of zebrafish dihydrolipoamide branched-chain transacylase E2 results in motor dysfunction and models maple syrup urine disease. Dis Model Mech 5(2):248-258
-
(2012)
Dis Model Mech
, vol.5
, Issue.2
, pp. 248-258
-
-
Friedrich, T.1
Lambert, A.M.2
Masino, M.A.3
Downes, G.B.4
-
28
-
-
0031596295
-
1-pyrroline 5-carboxylate dehydrogenase gene cause type II hyperprolinemia
-
DOI 10.1093/hmg/7.9.1411
-
Geraghty MT, Vaughn D, Nicholson AJ et al (1998) Mutations in the Delta1-pyrroline 5-carboxylate dehydrogenase gene cause type II hyperprolinemia. Hum Mol Genet 7(9):1411-1415 (Pubitemid 28429921)
-
(1998)
Human Molecular Genetics
, vol.7
, Issue.9
, pp. 1411-1415
-
-
Geraghty, M.T.1
Vaughn, D.2
Nicholson, A.J.3
Lin, W.-W.4
Jimenez-Sanchez, G.5
Obie, C.6
Flynn, M.P.7
Valle, D.8
Hu, C.-A.A.9
-
29
-
-
84872681212
-
Whole-organism screening for gluconeogenesis identifies activators of fasting metabolism
-
Gut P, Baeza-Raja B, Andersson O et al (2013) Whole-organism screening for gluconeogenesis identifies activators of fasting metabolism. Nat Chem Biol 9(2):97-104
-
(2013)
Nat Chem Biol
, vol.9
, Issue.2
, pp. 97-104
-
-
Gut, P.1
Baeza-Raja, B.2
Andersson, O.3
-
30
-
-
12644303221
-
The identification of genes with unique and essential functions in the development of the zebrafish, Danio rerio
-
Haffter P, Granato M, Brand M et al (1996) The identification of genes with unique and essential functions in the development of the zebrafish, Danio rerio. Development 123:1-36 (Pubitemid 27056733)
-
(1996)
Development
, vol.123
, pp. 1-36
-
-
Haffter, P.1
Granato, M.2
Brand, M.3
Mullins, M.C.4
Hammerschmidt, M.5
Kane, D.A.6
Odenthal, J.7
Van Eeden, F.J.M.8
Jiang, Y.-J.9
Heisenberg, C.-P.10
Kelsh, R.N.11
Furutani-Seiki, M.12
Vogelsang, E.13
Beuchle, D.14
Schach, U.15
Fabian, C.16
Nusslein-Volhard, C.17
-
31
-
-
45549103009
-
Gal4/UAS transgenic tools and their application to zebrafish
-
DOI 10.1089/zeb.2008.0530
-
Halpern ME, Rhee J, Goll MG, Akitake CM, Parsons M, Leach SD (2008) Gal4/UAS transgenic tools and their application to zebrafish. Zebrafish 5(2):97-110 (Pubitemid 351860474)
-
(2008)
Zebrafish
, vol.5
, Issue.2
, pp. 97-110
-
-
Halpern, M.E.1
Rhee, J.2
Goll, M.G.3
Akitake, C.M.4
Parsons, M.5
Leach, S.D.6
-
32
-
-
0029802904
-
Genetic analysis of dorsoventral pattern formation in the zebrafish: Requirement of a BMP-like ventralizing activity and its dorsal repressor
-
Hammerschmidt M, Serbedzija GN, McMahon AP (1996) Genetic analysis of dorsoventral pattern formation in the zebrafish: requirement of a BMP-like ventralizing activity and its dorsal repressor. Genes Dev 10(19):2452-2461 (Pubitemid 26341880)
-
(1996)
Genes and Development
, vol.10
, Issue.19
, pp. 2452-2461
-
-
Hammerschmidt, M.1
Serbedzija, G.N.2
McMahon, A.P.3
-
33
-
-
20344373417
-
Overview of the molecular and biochemical basis of branched-chain amino acid catabolism
-
Harris RA, Joshi M, Jeoung NH, Obayashi M (2005) Overview of the molecular and biochemical basis of branched-chain amino acid catabolism. J Nutr 135(6 Suppl):1527S-1530S (Pubitemid 40791665)
-
(2005)
Journal of Nutrition
, vol.135
, Issue.6 SUPPL.
-
-
Harris, R.A.1
Joshi, M.2
Jeoung, N.H.3
Obayashi, M.4
-
34
-
-
79551619007
-
rnaset2 mutant zebrafish model familial cystic leukoencephalopathy and reveal a role for RNase T2 in degrading ribosomal RNA
-
Haud N, Kara F, Diekmann S et al (2011) rnaset2 mutant zebrafish model familial cystic leukoencephalopathy and reveal a role for RNase T2 in degrading ribosomal RNA. Proc Natl Acad Sci U S A 108(3):1099-1103
-
(2011)
Proc Natl Acad Sci U S a
, vol.108
, Issue.3
, pp. 1099-1103
-
-
Haud, N.1
Kara, F.2
Diekmann, S.3
-
35
-
-
84866876912
-
Reverse genetic approaches in zebrafish
-
Huang P, Zhu Z, Lin S, Zhang B (2012) Reverse genetic approaches in zebrafish. J Genet Genom Yi chuan xue bao 39(9):421-433
-
(2012)
J Genet Genom Yi Chuan Xue Bao
, vol.39
, Issue.9
, pp. 421-433
-
-
Huang, P.1
Zhu, Z.2
Lin, S.3
Zhang, B.4
-
36
-
-
12244298937
-
Short-term dietary interventions in children and adolescents with treated phenylketonuria: Effects on neuropsychological outcome of a well-controlled population
-
DOI 10.1023/A:1021205713674
-
Huijbregts SC, de Sonneville LM, Licht R, van Spronsen FJ, Sergeant JA (2002) Short-term dietary interventions in children and adolescents with treated phenylketonuria: effects on neuropsychological outcome of a well-controlled population. J Inherit Metab Dis 25(6):419-430 (Pubitemid 36104377)
-
(2002)
Journal of Inherited Metabolic Disease
, vol.25
, Issue.6
, pp. 419-430
-
-
Huijbregts, S.C.J.1
De Sonneville, L.M.J.2
Licht, R.3
Van Spronsen, F.J.4
Sergeant, J.A.5
-
37
-
-
84874617789
-
Efficient genome editing in zebrafish using a CRISPR-Cas system
-
Hwang WY, Fu Y, Reyon D et al (2013) Efficient genome editing in zebrafish using a CRISPR-Cas system. Nat Biotechnol 31(3):227-229
-
(2013)
Nat Biotechnol
, vol.31
, Issue.3
, pp. 227-229
-
-
Hwang, W.Y.1
Fu, Y.2
Reyon, D.3
-
38
-
-
40749095640
-
Functional and developmental analysis of the blood-brain barrier in zebrafish
-
Jeong JY, Kwon HB, Ahn JC et al (2008) Functional and developmental analysis of the blood-brain barrier in zebrafish. Brain Res Bull 75(5):619-628
-
(2008)
Brain Res Bull
, vol.75
, Issue.5
, pp. 619-628
-
-
Jeong, J.Y.1
Kwon, H.B.2
Ahn, J.C.3
-
39
-
-
84876807823
-
A systematic genome-wide analysis of zebrafish protein-coding gene function
-
Kettleborough RNW, Busch-Nentwich EM, Harvey SA et al (2013) A systematic genome-wide analysis of zebrafish protein-coding gene function. Nature 496(7446):494-497
-
(2013)
Nature
, vol.496
, Issue.7446
, pp. 494-497
-
-
Kettleborough, R.N.W.1
Busch-Nentwich, E.M.2
Harvey, S.A.3
-
40
-
-
0038349343
-
The zebrafish as a vertebrate model of functional aging and very gradual senescence
-
DOI 10.1016/S0531-5565(03)00108-6
-
Kishi S, Uchiyama J, Baughman AM, Goto T, Lin MC, Tsai SB (2003) The zebrafish as a vertebrate model of functional aging and very gradual senescence. Exp Gerontol 38(7):777-786 (Pubitemid 36802406)
-
(2003)
Experimental Gerontology
, vol.38
, Issue.7
, pp. 777-786
-
-
Kishi, S.1
Uchiyama, J.2
Baughman, A.M.3
Goto, T.4
Lin, M.C.5
Tsai, S.B.6
-
41
-
-
78149429744
-
Progranulin is neurotrophic in vivo and protects against a mutant TDP-43 induced axonopathy
-
Laird AS, Van Hoecke A, De Muynck L et al (2010) Progranulin is neurotrophic in vivo and protects against a mutant TDP-43 induced axonopathy. PLoS One 5(10):e13368
-
(2010)
PLoS One
, vol.5
, Issue.10
-
-
Laird, A.S.1
Van Hoecke, A.2
De Muynck, L.3
-
42
-
-
79951793352
-
Zebrafish in endocrine systems: Recent advances and implications for human disease
-
Löhr H, Hammerschmidt M (2011) Zebrafish in endocrine systems: recent advances and implications for human disease. Annu Rev Physiol 73:183-211
-
(2011)
Annu Rev Physiol
, vol.73
, pp. 183-211
-
-
Löhr, H.1
Hammerschmidt, M.2
-
43
-
-
34447510930
-
Function and regulation of human copper-transporting ATPases
-
DOI 10.1152/physrev.00004.2006
-
Lutsenko S, Barnes NL, Bartee MY, Dmitriev OY (2007) Function and regulation of human copper-transporting ATPases. Physiol Rev 87 (3):1011-1046 (Pubitemid 47084675)
-
(2007)
Physiological Reviews
, vol.87
, Issue.3
, pp. 1011-1046
-
-
Lutsenko, S.1
Barnes, N.L.2
Bartee, M.Y.3
Dmitriev, O.Y.4
-
44
-
-
57149103308
-
Zebrafish mutants calamity and catastrophe define critical pathways of gene-nutrient interactions in developmental copper metabolism
-
Madsen EC, Gitlin JD (2008) Zebrafish mutants calamity and catastrophe define critical pathways of gene-nutrient interactions in developmental copper metabolism. PLoS Genet 4(11):e1000261
-
(2008)
PLoS Genet
, vol.4
, Issue.11
-
-
Madsen, E.C.1
Gitlin, J.D.2
-
45
-
-
41649088875
-
In vivo correction of a Menkes disease model using antisense oligonucleotides
-
DOI 10.1073/pnas.0710865105
-
Madsen EC, Morcos PA, Mendelsohn BA, Gitlin JD (2008) In vivo correction of a Menkes disease model using antisense oligonucleotides. Proc Natl Acad Sci U S A 105(10):3909-3914 (Pubitemid 351723498)
-
(2008)
Proceedings of the National Academy of Sciences of the United States of America
, vol.105
, Issue.10
, pp. 3909-3914
-
-
Madsen, E.C.1
Morcos, P.A.2
Mendelsohn, B.A.3
Gitlin, J.D.4
-
46
-
-
84877285307
-
A zebrafish model of CLN2 disease is deficient in tripeptidyl peptidase 1 and displays progressive neurodegeneration accompanied by a reduction in proliferation
-
Mahmood F, Fu S, Cooke J, Wilson SW, Cooper JD, Russell C (2013) A zebrafish model of CLN2 disease is deficient in tripeptidyl peptidase 1 and displays progressive neurodegeneration accompanied by a reduction in proliferation. Brain 136 (Pt 5):1488-1507
-
(2013)
Brain
, vol.136
, Issue.PART 5
, pp. 1488-1507
-
-
Mahmood, F.1
Fu, S.2
Cooke, J.3
Wilson, S.W.4
Cooper, J.D.5
Russell, C.6
-
47
-
-
84904128182
-
New players in melanoma
-
Martz L (2011) New players in melanoma. Sci-Bus Exch 4(15):1-2
-
(2011)
Sci-Bus Exch
, vol.4
, Issue.15
, pp. 1-2
-
-
Martz, L.1
-
48
-
-
77956570749
-
Distinct retinal deficits in a zebrafish pyruvate dehydrogenase-deficient mutant
-
Maurer CM, Schonthaler HB, Mueller KP, Neuhauss SC (2010) Distinct retinal deficits in a zebrafish pyruvate dehydrogenase-deficient mutant. J Neurosci 30(36):11962-11972
-
(2010)
J Neurosci
, vol.30
, Issue.36
, pp. 11962-11972
-
-
Maurer, C.M.1
Schonthaler, H.B.2
Mueller, K.P.3
Neuhauss, S.C.4
-
49
-
-
0033585476
-
Prevalence of lysosomal storage disorders
-
DOI 10.1001/jama.281.3.249
-
Meikle PJ, Hopwood JJ, Clague AE, Carey WF (1999) Prevalence of lysosomal storage disorders. JAMA 281(3):249-254 (Pubitemid 29058114)
-
(1999)
Journal of the American Medical Association
, vol.281
, Issue.3
, pp. 249-254
-
-
Meikle, P.J.1
Hopwood, J.J.2
Clague, A.E.3
Carey, W.F.4
-
50
-
-
33746558633
-
Atp7a determines a hierarchy of copper metabolism essential for notochord development
-
DOI 10.1016/j.cmet.2006.05.001, PII S1550413106001562
-
Mendelsohn BA, Yin C, Johnson SL, Wilm TP, Solnica-Krezel L, Gitlin JD (2006) Atp7a determines a hierarchy of copper metabolism essential for notochord development. Cell Metab 4(2):155-162 (Pubitemid 44138717)
-
(2006)
Cell Metabolism
, vol.4
, Issue.2
, pp. 155-162
-
-
Mendelsohn, B.A.1
Yin, C.2
Johnson, S.L.3
Wilm, T.P.4
Solnica-Krezel, L.5
Gitlin, J.D.6
-
52
-
-
58149385745
-
Reverse genetics in zebrafish by TILLING
-
Moens CB, Donn TM, Wolf-Saxon ER, Ma TP (2008) Reverse genetics in zebrafish by TILLING. Brief Funct Genomic Proteomic 7(6):454-459
-
(2008)
Brief Funct Genomic Proteomic
, vol.7
, Issue.6
, pp. 454-459
-
-
Moens, C.B.1
Donn, T.M.2
Wolf-Saxon, E.R.3
Ma, T.P.4
-
53
-
-
73649086537
-
A novel functional role of iduronate-2-sulfatase in zebrafish early development
-
Moro E, Tomanin R, Friso A et al (2010) A novel functional role of iduronate-2-sulfatase in zebrafish early development. Matrix Biol 29 (1):43-50
-
(2010)
Matrix Biol
, vol.29
, Issue.1
, pp. 43-50
-
-
Moro, E.1
Tomanin, R.2
Friso, A.3
-
54
-
-
0030760905
-
Biochemical and molecular analysis of an X-linked case of Leigh syndrome associated with thiamin-responsive pyruvate dehydrogenase deficiency
-
DOI 10.1023/A:1005305614374
-
Naito E, Ito M, Yokota I et al (1997) Biochemical and molecular analysis of an X-linked case of Leigh syndrome associated with thiamin-responsive pyruvate dehydrogenase deficiency. J Inherit Metab Dis 20(4):539-548 (Pubitemid 27354849)
-
(1997)
Journal of Inherited Metabolic Disease
, vol.20
, Issue.4
, pp. 539-548
-
-
Naito, E.1
Ito, M.2
Yokota, I.3
Saijo, T.4
Matsuda, J.5
Osaka, H.6
Kimura, S.7
Kuroda, Y.8
-
55
-
-
14944387002
-
Iron trafficking in the mitochondrion: Novel pathways revealed by disease
-
DOI 10.1182/blood-2004-10-3856
-
Napier I, Ponka P, Richardson DR (2005) Iron trafficking in the mitochondrion: novel pathways revealed by disease. Blood 105(5):1867-1874 (Pubitemid 40731766)
-
(2005)
Blood
, vol.105
, Issue.5
, pp. 1867-1874
-
-
Napier, I.1
Ponka, P.2
Richardson, D.R.3
-
57
-
-
0038046685
-
Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency
-
DOI 10.1002/humu.10226
-
Olsen RK, Andresen BS, Christensen E, Bross P, Skovby F, Gregersen N (2003) Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency. Hum Mutat 22(1):12-23 (Pubitemid 36807768)
-
(2003)
Human Mutation
, vol.22
, Issue.1
, pp. 12-23
-
-
Olsen, R.K.J.1
Andresen, B.S.2
Christensen, E.3
Bross, P.4
Skovby, F.5
Gregersen, N.6
-
58
-
-
0023275679
-
Clinical, biochemical and enzymatic studies in Type I hyperprolinemia associated with chromosomal abnormality
-
Oyanagi K, Tsuchiyama A, Itakura Y et al (1987) Clinical, biochemical and enzymatic studies in type I hyperprolinemia associated with chromosomal abnormality. Tohoku J Exp Med 151(4):465-475 (Pubitemid 17110186)
-
(1987)
Tohoku Journal of Experimental Medicine
, vol.151
, Issue.4
, pp. 465-475
-
-
Oyanagi, K.1
Tsuchiyama, A.2
Itakura, Y.3
-
59
-
-
0035657098
-
The art and design of genetic screens: Zebrafish
-
DOI 10.1038/35103567
-
Patton E, Zon L (2001) The art and design of genetic screens: zebrafish. Nat Rev Genet 2(12):956-966 (Pubitemid 33691092)
-
(2001)
Nature Reviews Genetics
, vol.2
, Issue.12
, pp. 956-966
-
-
Patton, E.E.1
Zon, L.I.2
-
60
-
-
33744959980
-
Inborn errors of metabolism in infancy and early childhood: An update
-
Raghuveer TS, Garg U, Graf WD (2006) Inborn errors of metabolism in infancy and early childhood: an update. Am Fam Physician 73(11):1981-1990 (Pubitemid 43854157)
-
(2006)
American Family Physician
, vol.73
, Issue.11
, pp. 1981-1990
-
-
Raghuveer, T.S.1
Garg, U.2
Graf, W.D.3
-
61
-
-
7844239345
-
Molecular characterization of homozygous variegate porphyria
-
DOI 10.1093/hmg/7.12.1921
-
Roberts AG, Puy H, Dailey TA et al (1998) Molecular characterization of homozygous variegate porphyria. Hum Mol Genet 7(12):1921-1925 (Pubitemid 28499424)
-
(1998)
Human Molecular Genetics
, vol.7
, Issue.12
, pp. 1921-1925
-
-
Roberts, A.G.1
Puy, H.2
Dailey, T.A.3
Morgan, R.R.4
Whatley, S.D.5
Dailey, H.A.6
Martasek, P.7
Nordmann, Y.8
Deybach, J.-C.9
Elder, G.H.10
-
62
-
-
79961192836
-
Targeted gene disruption in somatic zebrafish cells using engineered TALENs
-
Sander JD, Cade L, Khayter C et al (2011) Targeted gene disruption in somatic zebrafish cells using engineered TALENs. Nat Biotechnol 29(8):697-698
-
(2011)
Nat Biotechnol
, vol.29
, Issue.8
, pp. 697-698
-
-
Sander, J.D.1
Cade, L.2
Khayter, C.3
-
64
-
-
84881515744
-
Proline-induced changes in acetylcholinesterase activity and gene expression in zebrafish brain: Reversal by antipsychotic drugs
-
Savio LE, Vuaden FC, Kist LWet al (2012a) Proline-induced changes in acetylcholinesterase activity and gene expression in zebrafish brain: reversal by antipsychotic drugs. Neuroscience 250:121-128
-
(2012)
Neuroscience
, vol.250
, pp. 121-128
-
-
Savio, L.E.1
Vuaden, F.C.2
Kist, L.W.3
-
65
-
-
84855406133
-
Behavioral changes induced by long-term proline exposure are reversed by antipsychotics in zebrafish
-
Savio LE, Vuaden FC, Piato AL, Bonan CD, Wyse AT (2012b) Behavioral changes induced by long-term proline exposure are reversed by antipsychotics in zebrafish. Prog Neuro-Psychopharmacol Biol Psychiatry 36(2):258-263
-
(2012)
Prog Neuro-Psychopharmacol Biol Psychiatry
, vol.36
, Issue.2
, pp. 258-263
-
-
Savio, L.E.1
Vuaden, F.C.2
Piato, A.L.3
Bonan, C.D.4
Wyse, A.T.5
-
66
-
-
84887084914
-
Genomic editing opens new avenues for zebrafish as a model for neurodegeneration
-
Schmid B, Haass C (2013) Genomic editing opens new avenues for zebrafish as a model for neurodegeneration. J Neurochem 127(4):461-470
-
(2013)
J Neurochem
, vol.127
, Issue.4
, pp. 461-470
-
-
Schmid, B.1
Haass, C.2
-
67
-
-
79959214673
-
Requirement of Npc1 and availability of cholesterol for early embryonic cell movements in Zebrafish
-
Schwend T, Loucks EJ, Snyder D, Ahlgren SC (2011) Requirement of Npc1 and availability of cholesterol for early embryonic cell movements in Zebrafish. J Lipid Res 52(7):1328-1344
-
(2011)
J Lipid Res
, vol.52
, Issue.7
, pp. 1328-1344
-
-
Schwend, T.1
Loucks, E.J.2
Snyder, D.3
Ahlgren, S.C.4
-
68
-
-
38349173569
-
Missense mutations in the progranulin gene linked to frontotemporal lobar degeneration with ubiquitin-immunoreactive inclusions reduce progranulin production and secretion
-
Shankaran SS, Capell A, Hruscha AT, et al (2008) Missense mutations in the progranulin gene linked to frontotemporal lobar degeneration with ubiquitin-immunoreactive inclusions reduce progranulin production and secretion. J Biol Chem 283(3):1744-1753
-
(2008)
J Biol Chem
, vol.283
, Issue.3
, pp. 1744-1753
-
-
Shankaran, S.S.1
Capell, A.2
Hruscha, A.T.3
-
69
-
-
33745079623
-
Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis
-
DOI 10.1093/brain/awl107
-
Siintola E, Partanen S, Stromme P et al (2006) Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis. Brain 129(Pt 6):1438-1445 (Pubitemid 43999376)
-
(2006)
Brain
, vol.129
, Issue.6
, pp. 1438-1445
-
-
Siintola, E.1
Partanen, S.2
Stromme, P.3
Haapanen, A.4
Haltia, M.5
Maehlen, J.6
Lehesjoki, A.-E.7
Tyynela, J.8
-
70
-
-
84862134180
-
Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage
-
Smith KR, Damiano J, Franceschetti S et al (2012) Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage. Am J Hum Genet 90(6):1102-1107
-
(2012)
Am J Hum Genet
, vol.90
, Issue.6
, pp. 1102-1107
-
-
Smith, K.R.1
Damiano, J.2
Franceschetti, S.3
-
71
-
-
77949535658
-
Mechanisms underlying metabolic and neural defects in zebrafish and human multiple acyl-CoA dehydrogenase deficiency (MADD)
-
Song Y, Selak MA, Watson CT et al (2009) Mechanisms underlying metabolic and neural defects in zebrafish and human multiple acyl-CoA dehydrogenase deficiency (MADD). PLoS One 4(12):e8329
-
(2009)
PLoS One
, vol.4
, Issue.12
-
-
Song, Y.1
Selak, M.A.2
Watson, C.T.3
-
72
-
-
65349115304
-
Lysosomal storage disorders in the newborn
-
Staretz-Chacham O, Lang TC, LaMarca ME, Krasnewich D, Sidransky E (2009) Lysosomal storage disorders in the newborn. Pediatrics 123(4):1191-1207
-
(2009)
Pediatrics
, vol.123
, Issue.4
, pp. 1191-1207
-
-
Staretz-Chacham, O.1
Lang, T.C.2
LaMarca, M.E.3
Krasnewich, D.4
Sidransky, E.5
-
73
-
-
84895076200
-
Zebrafish as a model system for mitochondrial biology and diseases
-
Steele SL, Prykhozhij SV, Berman JN (2014) Zebrafish as a model system for mitochondrial biology and diseases. Transl Res 163(2):79-98
-
(2014)
Transl Res
, vol.163
, Issue.2
, pp. 79-98
-
-
Steele, S.L.1
Prykhozhij, S.V.2
Berman, J.N.3
-
74
-
-
0742323536
-
TILLING - A high-throughput harvest for functional genomics
-
Stemple DL (2004) TILLING - a high-throughput harvest for functional genomics. Nat Rev Genet 5(2):145-150
-
(2004)
Nat Rev Genet
, vol.5
, Issue.2
, pp. 145-150
-
-
Stemple, D.L.1
-
75
-
-
13444271629
-
Discovery of induced point mutations in maize genes by TILLING
-
Till BJ, Reynolds SH, Weil C et al (2004) Discovery of induced point mutations in maize genes by TILLING. BMC Plant Biol 4:12
-
(2004)
BMC Plant Biol
, vol.4
, pp. 12
-
-
Till, B.J.1
Reynolds, S.H.2
Weil, C.3
-
77
-
-
0242558202
-
Targeted Gene Knockdown in Zebrafish Using Negatively Charged Peptide Nucleic Acid Mimics
-
DOI 10.1002/dvdy.10394
-
Urtishak KA, Choob M, Tian X et al (2003) Targeted gene knockdown in zebrafish using negatively charged peptide nucleic acidmimics. Dev Dyn 228(3):405-413 (Pubitemid 37372762)
-
(2003)
Developmental Dynamics
, vol.228
, Issue.3
, pp. 405-413
-
-
Urtishak, K.A.1
Choob, M.2
Tian, X.3
Sternheim, N.4
Talbot, W.S.5
Wickstrom, E.6
Farber, S.A.7
-
78
-
-
84887416057
-
Mitophagy and neurodegeneration: The zebrafish model system
-
Wager K, Russell C (2013) Mitophagy and neurodegeneration: the zebrafish model system. Autophagy 9(11):1693-1709
-
(2013)
Autophagy
, vol.9
, Issue.11
, pp. 1693-1709
-
-
Wager, K.1
Russell, C.2
-
79
-
-
64449085191
-
Pathogenic cascades in lysosomal disease-Why so complex?
-
Walkley SU (2009) Pathogenic cascades in lysosomal disease-Why so complex? J Inherit Metab Dis 32(7):181-189
-
(2009)
J Inherit Metab Dis
, vol.32
, Issue.7
, pp. 181-189
-
-
Walkley, S.U.1
-
80
-
-
79960592056
-
Abnormal mitoferrin-1 expression in patients with erythropoietic protoporphyria
-
Wang Y, Langer NB, Shaw GC et al (2011) Abnormal mitoferrin-1 expression in patients with erythropoietic protoporphyria. Exp Hematol 39(7):784-794
-
(2011)
Exp Hematol
, vol.39
, Issue.7
, pp. 784-794
-
-
Wang, Y.1
Langer, N.B.2
Shaw, G.C.3
-
81
-
-
0031764706
-
A zebrafish model for hepatoerythropoietic porphyria
-
DOI 10.1038/3041
-
Wang H, Long Q, Marty SD, Sassa S, Lin S (1998) A zebrafish model for hepatoerythropoietic porphyria. Nat Genet 20(3):239-243 (Pubitemid 28507667)
-
(1998)
Nature Genetics
, vol.20
, Issue.3
, pp. 239-243
-
-
Wang, H.1
Long, Q.2
Marty, S.D.3
Sassa, S.4
Shuo, L.5
-
82
-
-
79953064886
-
DHODH modulates transcriptional elongation in the neural crest and melanoma
-
White RM, Cech J, Ratanasirintrawoot S et al (2011) DHODH modulates transcriptional elongation in the neural crest and melanoma. Nature 471(7339):518-522
-
(2011)
Nature
, vol.471
, Issue.7339
, pp. 518-522
-
-
White, R.M.1
Cech, J.2
Ratanasirintrawoot, S.3
-
83
-
-
0242266618
-
The microRNA-producing enzyme Dicer1 is essential for zebrafish development
-
DOI 10.1038/ng1251
-
Wienholds E, Koudijs MJ, van Eeden FJM, Cuppen E, Plasterk RHA (2003) The microRNA-producing enzyme Dicer1 is essential for zebrafish development. Nat Genet 35(3):217-218 (Pubitemid 37363173)
-
(2003)
Nature Genetics
, vol.35
, Issue.3
, pp. 217-218
-
-
Wienholds, E.1
Koudijs, M.J.2
Van Eeden, F.J.M.3
Cuppen, E.4
Plasterk, R.H.A.5
-
84
-
-
5344252754
-
Overview of lysosomes and storage diseases: Clinical aspects and diagnosis
-
Platt FM, Walkley SU (eds) Oxford University Press, Oxford
-
Wraith JE (2004) Overview of lysosomes and storage diseases: clinical aspects and diagnosis. In: Platt FM, Walkley SU (eds) Lysosomal disorders of the brain. Oxford University Press, Oxford, pp 50-77
-
(2004)
Lysosomal Disorders of the Brain
, pp. 50-77
-
-
Wraith, J.E.1
-
85
-
-
39149118050
-
Mucopolysaccharidosis type II (Hunter syndrome): A clinical review and recommendations for treatment in the era of enzyme replacement therapy
-
Wraith JE, Scarpa M, Beck M et al (2008) Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy. Eur J Pediatr 167(3):267-277
-
(2008)
Eur J Pediatr
, vol.167
, Issue.3
, pp. 267-277
-
-
Wraith, J.E.1
Scarpa, M.2
Beck, M.3
-
86
-
-
57349171954
-
BMP type I receptor inhibition reduces heterotopic [corrected] ossification
-
Yu PB, Deng DY, Lai CS et al (2008) BMP type I receptor inhibition reduces heterotopic [corrected] ossification. Nat Med 14(12):1363-1369
-
(2008)
Nat Med
, vol.14
, Issue.12
, pp. 1363-1369
-
-
Yu, P.B.1
Deng, D.Y.2
Lai, C.S.3
-
87
-
-
0035164784
-
Double-stranded RNA injection produces nonspecific defects in zebrafish
-
DOI 10.1006/dbio.2000.9982
-
Zhao Z, Cao Y, Li M, Meng A (2001) Double-stranded RNA injection produces nonspecific defects in zebrafish. Dev Biol 229(1):215-223 (Pubitemid 32061725)
-
(2001)
Developmental Biology
, vol.229
, Issue.1
, pp. 215-223
-
-
Zhao, Z.1
Cao, Y.2
Li, M.3
Meng, A.4
-
88
-
-
84875712361
-
TALEN-mediated precise genome modification by homologous recombination in zebrafish
-
Zu Y, Tong X, Wang Z et al (2013) TALEN-mediated precise genome modification by homologous recombination in zebrafish. Nat Methods 10(4):329-331
-
(2013)
Nat Methods
, vol.10
, Issue.4
, pp. 329-331
-
-
Zu, Y.1
Tong, X.2
Wang, Z.3
|