-
1
-
-
33746867852
-
Classical galactosaemia revisited
-
Bosch, A.M. (2006) Classical galactosaemia revisited. J. Inherit. Metab. Dis., 29, 516-525.
-
(2006)
J. Inherit. Metab. Dis
, vol.29
, pp. 516-525
-
-
Bosch, A.M.1
-
2
-
-
0242498430
-
Structure and function of enzymes of the Leloir pathway for galactose metabolism
-
Holden, H.M., Rayment, I. and Thoden, J.B. (2003) Structure and function of enzymes of the Leloir pathway for galactose metabolism. J. Biol. Chem., 278, 43885-43888.
-
(2003)
J. Biol. Chem
, vol.278
, pp. 43885-43888
-
-
Holden, H.M.1
Rayment, I.2
Thoden, J.B.3
-
3
-
-
84859858366
-
-
2nd edition, Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY
-
Freeze, H.H. and Elbein, A.D. (2009). Glycosylation Precursors. Essentials of Glycobiology, 2nd edition, Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY.
-
(2009)
Glycosylation Precursors. Essentials of Glycobiology
-
-
Freeze, H.H.1
Elbein, A.D.2
-
4
-
-
0033975514
-
Synthesis and sorting of proteoglycans
-
Prydz, K. and Dalen, K.T. (2000) Synthesis and sorting of proteoglycans. J. Cell Sci., 113, 193-205.
-
(2000)
J. Cell Sci
, vol.113
, pp. 193-205
-
-
Prydz, K.1
Dalen, K.T.2
-
5
-
-
83455236106
-
Glycosylated synaptomatrix regulation of trans-synaptic signaling
-
Dani, N. and Broadie, K. (2012) Glycosylated synaptomatrix regulation of trans-synaptic signaling. Dev. Neurobiol., 72, 2-21.
-
(2012)
Dev. Neurobiol
, vol.72
, pp. 2-21
-
-
Dani, N.1
Broadie, K.2
-
6
-
-
0016329163
-
Uridine diphosphate glucose pyrophosphorylase. Crystallization and properties of the enzyme from rabbit liver and species comparisons
-
Turnquist, R.L., Gillett, T.A. and Hansen, R.G. (1974) Uridine diphosphate glucose pyrophosphorylase. Crystallization and properties of the enzyme from rabbit liver and species comparisons. J. Biol. Chem., 249, 7695-7700.
-
(1974)
J. Biol. Chem
, vol.249
, pp. 7695-7700
-
-
Turnquist, R.L.1
Gillett, T.A.2
Hansen, R.G.3
-
7
-
-
14644423585
-
Toward a blueprint for UDP-glucose pyrophosphrylase structure/function properties: homology-modeling analyses
-
Geisler, M., Wilczynska, M., Karpinski, S. and Kleczkowski, L.A. (2004) Toward a blueprint for UDP-glucose pyrophosphrylase structure/function properties: homology-modeling analyses. Plant Mol./Biol., 56, 783-794.
-
(2004)
Plant Mol./Biol
, vol.56
, pp. 783-794
-
-
Geisler, M.1
Wilczynska, M.2
Karpinski, S.3
Kleczkowski, L.A.4
-
8
-
-
84856922804
-
The crystal structure of human UDP-glucose pyrophosphorylase reveals a latch effect that influences enzymatic activity
-
Yu, Q. and Zheng, X. (2012) The crystal structure of human UDP-glucose pyrophosphorylase reveals a latch effect that influences enzymatic activity. Biochem. J., 442, 283-2913.
-
(2012)
Biochem. J
, vol.442
, pp. 283-2913
-
-
Yu, Q.1
Zheng, X.2
-
9
-
-
18044386857
-
A mammalian uridinediphosphate galactose pyrophosphorylase
-
Isselbacher, K.J. (1958) A mammalian uridinediphosphate galactose pyrophosphorylase. J. Biol. Chem., 232, 429-444.
-
(1958)
J. Biol. Chem
, vol.232
, pp. 429-444
-
-
Isselbacher, K.J.1
-
10
-
-
85014329669
-
-
Morbidity and Mortality Weekly Report (MMWR)
-
CDC Grand Rounds (2012): Newborn Screening and Improved Outcomes. Morbidity and Mortality Weekly Report (MMWR). Available: http://www.cdc.gov/mmwr/preview/mmwrhtml/mm6121a2.htm.
-
(2012)
Newborn Screening and Improved Outcomes
-
-
-
11
-
-
33750530816
-
Galactosemia: the good, the bad, and the unknown
-
Fridovich-Keil, J.L. (2006) Galactosemia: the good, the bad, and the unknown. J. Cell Physiol., 209, 701-705.
-
(2006)
J. Cell Physiol
, vol.209
, pp. 701-705
-
-
Fridovich-Keil, J.L.1
-
12
-
-
84919645000
-
Overelaborated synaptic architecture and reduced synaptomatrix glycosylation in a Drosophila classic galactosemia disease model
-
Jumbo-Lucioni, P., Parkinson, W. and Broadie, K. (2014) Overelaborated synaptic architecture and reduced synaptomatrix glycosylation in a Drosophila classic galactosemia disease model. Dis. Model Mech., 7, 1365-1378.
-
(2014)
Dis. Model Mech
, vol.7
, pp. 1365-1378
-
-
Jumbo-Lucioni, P.1
Parkinson, W.2
Broadie, K.3
-
13
-
-
84863636182
-
-
GeneReviewsVR [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015
-
Fridovich-Keil, J., Bean, L., He, M. and Schroer, R. (2011). Epimerase Deficiency Galactosemia. GeneReviewsVR [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015. Available from: http://www.ncbi.nlm.nih.gov/books/NBK51671/.
-
(2011)
Epimerase Deficiency Galactosemia
-
-
Fridovich-Keil, J.1
Bean, L.2
He, M.3
Schroer, R.4
-
14
-
-
79955684951
-
Features and outcome of galactokinase deficiency in children diagnosed by newborn screening
-
Hennermann, J.B., Schadewaldt, P., Vetter, B., Shin, Y.S., Monch, E. and Klein, J. (2011) Features and outcome of galactokinase deficiency in children diagnosed by newborn screening. J. Inherit. Metab. Dis., 34, 399-407.
-
(2011)
J. Inherit. Metab. Dis
, vol.34
, pp. 399-407
-
-
Hennermann, J.B.1
Schadewaldt, P.2
Vetter, B.3
Shin, Y.S.4
Monch, E.5
Klein, J.6
-
15
-
-
84855483418
-
Early cataract formation due to galactokinase deficiency: impact of newborn screening
-
Janzen, N., Illsinger, S., Meyer, U., Shin, Y.S., Sander, J., Lucke, T. and Das, A.M. (2011) Early cataract formation due to galactokinase deficiency: impact of newborn screening. Arch. Med. Res., 42, 608-612.
-
(2011)
Arch. Med. Res
, vol.42
, pp. 608-612
-
-
Janzen, N.1
Illsinger, S.2
Meyer, U.3
Shin, Y.S.4
Sander, J.5
Lucke, T.6
Das, A.M.7
-
16
-
-
84983477155
-
The molecular basis of galactosemia-Past, present and future
-
Timson, D.J. (2015) The molecular basis of galactosemia-Past, present and future. Gene, doi: 10.106/j.gene.2015.06.077.
-
(2015)
Gene
-
-
Timson, D.J.1
-
17
-
-
0019773996
-
Galactosaemia: a new severe variant due to uridine diphosphate galactose-4-epimerase deficiency
-
Holton, J.B., Gillett, M.G., MacFaul, R. and Young, R. (1981) Galactosaemia: a new severe variant due to uridine diphosphate galactose-4-epimerase deficiency. Arch. Dis. Child., 56, 885-887.
-
(1981)
Arch. Dis. Child
, vol.56
, pp. 885-887
-
-
Holton, J.B.1
Gillett, M.G.2
MacFaul, R.3
Young, R.4
-
18
-
-
0015098395
-
The neuropathology of galactosemia. A histopathological and biochemical study
-
Haberland, C., Perou, M., Brunngraber, E.G. and Hof, H. (1971) The neuropathology of galactosemia. A histopathological and biochemical study. J. Neuropathol. Exp. Neurol., 30, 431-447.
-
(1971)
J. Neuropathol. Exp. Neurol
, vol.30
, pp. 431-447
-
-
Haberland, C.1
Perou, M.2
Brunngraber, E.G.3
Hof, H.4
-
19
-
-
0026346397
-
Characterization of a novel biochemical abnormality in galactosemia: deficiency of glycolipids containing galactose or N-acetylgalactosamine and accumulation of precursors in brain and lymphocytes
-
Petry, K., Greinix, H.T., Nudelman, E., Eisen, H., Hakomori, S., Levy, H.L. and Reichardt, J.K.V. (1991) Characterization of a novel biochemical abnormality in galactosemia: deficiency of glycolipids containing galactose or N-acetylgalactosamine and accumulation of precursors in brain and lymphocytes. Biochem. Med. Metab. Biol., 46, 93-104.
-
(1991)
Biochem. Med. Metab. Biol
, vol.46
, pp. 93-104
-
-
Petry, K.1
Greinix, H.T.2
Nudelman, E.3
Eisen, H.4
Hakomori, S.5
Levy, H.L.6
Reichardt, J.K.V.7
-
20
-
-
0031946087
-
Defective galactosylation of serum transferrin in galactosemia
-
Charlwood, J., Clayton, P., Keir, G., Mian, N. and Winchester, B. (1998) Defective galactosylation of serum transferrin in galactosemia. Glycobiology, 8, 351-357.
-
(1998)
Glycobiology
, vol.8
, pp. 351-357
-
-
Charlwood, J.1
Clayton, P.2
Keir, G.3
Mian, N.4
Winchester, B.5
-
21
-
-
84870690924
-
A targeted glycan-related gene screen reveals heparan sulfate proteoglycan sulfation regulates WNT and BMP trans-synaptic signaling
-
Dani, N., Nahm, M., Lee, S. and Broadie, K. (2012) A targeted glycan-related gene screen reveals heparan sulfate proteoglycan sulfation regulates WNT and BMP trans-synaptic signaling. PLoS Genet., 8, e1003031.
-
(2012)
PLoS Genet
, vol.8
-
-
Dani, N.1
Nahm, M.2
Lee, S.3
Broadie, K.4
-
22
-
-
84888878912
-
N-glycosylation requirements in neuromuscular synaptogenesis
-
Parkinson, W., Dear, M.L., Rushton, E. and Broadie, K. (2013) N-glycosylation requirements in neuromuscular synaptogenesis. Development, 140, 4970-4981.
-
(2013)
Development
, vol.140
, pp. 4970-4981
-
-
Parkinson, W.1
Dear, M.L.2
Rushton, E.3
Broadie, K.4
-
23
-
-
84888878289
-
Fragile X mental retardation protein regulates transsynaptic signaling in Drosophila
-
Friedman, S.H., Dani, N., Rushton, E. and Broadie, K. (2013) Fragile X mental retardation protein regulates transsynaptic signaling in Drosophila. Dis. Model Mech., 6, 1400-1413.
-
(2013)
Dis. Model Mech
, vol.6
, pp. 1400-1413
-
-
Friedman, S.H.1
Dani, N.2
Rushton, E.3
Broadie, K.4
-
24
-
-
0025648036
-
Longterm prognosis in galactosaemia: results of a survey of 350 cases
-
Waggoner, D.D., Buist, N.R. and Donnell, G.N. (1990) Longterm prognosis in galactosaemia: results of a survey of 350 cases. J. Inherit. Metab. Dis., 13, 802-818.
-
(1990)
J. Inherit. Metab. Dis
, vol.13
, pp. 802-818
-
-
Waggoner, D.D.1
Buist, N.R.2
Donnell, G.N.3
-
25
-
-
0027270602
-
Longterm outcome in 134 patients with galactosaemia
-
Schweitzer, S., Shin, Y., Jakobs, C. and Brodehl, J. (1993) Longterm outcome in 134 patients with galactosaemia. Eur. J. Pediatr., 152, 36-43.
-
(1993)
Eur. J. Pediatr
, vol.152
, pp. 36-43
-
-
Schweitzer, S.1
Shin, Y.2
Jakobs, C.3
Brodehl, J.4
-
26
-
-
0029084235
-
Cognitive functioning, neurologic status and brain imaging in classical galactosemia
-
Kaufman, F.R., McBride-Chang, C., Manis, F.R., Wolff, J.A. and Nelson, M.D. (1995) Cognitive functioning, neurologic status and brain imaging in classical galactosemia. Eur. J. Pediatr., 154, S2-S5.
-
(1995)
Eur. J. Pediatr
, vol.154
, pp. S2-S5
-
-
Kaufman, F.R.1
McBride-Chang, C.2
Manis, F.R.3
Wolff, J.A.4
Nelson, M.D.5
-
27
-
-
64149095870
-
Outcomes of siblings with classical galactosemia
-
Hughes, J., Ryan, S., Lambert, D., Geoghegan, O., Clark, A., Rogers, Y., Hendroff, U., Monaravi, A., Twomey, E. and Treacy, E.P. (2009) Outcomes of siblings with classical galactosemia. J. Pediatr., 154, 721-726.
-
(2009)
J. Pediatr
, vol.154
, pp. 721-726
-
-
Hughes, J.1
Ryan, S.2
Lambert, D.3
Geoghegan, O.4
Clark, A.5
Rogers, Y.6
Hendroff, U.7
Monaravi, A.8
Twomey, E.9
Treacy, E.P.10
-
28
-
-
84879600863
-
Movement disorders in adult patients with classical galactosemia
-
Rubio-Agusti, I., Carecchio, M., Bhatia, K.P., Kojovic, M., Parees, I., Chandrashekar, H.S., Footitt, E.J., Burke, D., Edwards, M.J., Lachmann, R.H. and Murphy, E. (2013) Movement disorders in adult patients with classical galactosemia. Mov. Disord., 28, 804-810.
-
(2013)
Mov. Disord
, vol.28
, pp. 804-810
-
-
Rubio-Agusti, I.1
Carecchio, M.2
Bhatia, K.P.3
Kojovic, M.4
Parees, I.5
Chandrashekar, H.S.6
Footitt, E.J.7
Burke, D.8
Edwards, M.J.9
Lachmann, R.H.10
Murphy, E.11
-
29
-
-
84941051170
-
STRING v10: protein-protein interaction networks, integrated over the tree of life
-
Szklarczyk, D., Franceschini, A., Wyder, S., Forslund, K., Heller, D., Huerta-Cepas, J., Simonovic, M., Roth, A., Santos, A., TsafouK, P., et al. (2015) STRING v10: protein-protein interaction networks, integrated over the tree of life. Nucleic Acids Res., 43, D447-D452.
-
(2015)
Nucleic Acids Res
, vol.43
, pp. D447-D452
-
-
Szklarczyk, D.1
Franceschini, A.2
Wyder, S.3
Forslund, K.4
Heller, D.5
Huerta-Cepas, J.6
Simonovic, M.7
Roth, A.8
Santos, A.9
Tsafou, K.P.10
-
30
-
-
70249120638
-
Positive correlation between galactose-1-phosphate uridyltransferase (GALT) and UDP-galactose-4'-epimerase (GALE) activities
-
Prodan-Zitnik, I., Karas-Kuzelicki, N. and Lukac-Bajalo, J. (2009) Positive correlation between galactose-1-phosphate uridyltransferase (GALT) and UDP-galactose-4'-epimerase (GALE) activities. Clin. Biochem., 42, 1561-1564.
-
(2009)
Clin. Biochem
, vol.42
, pp. 1561-1564
-
-
Prodan-Zitnik, I.1
Karas-Kuzelicki, N.2
Lukac-Bajalo, J.3
-
31
-
-
0032935597
-
Generalised uridine diphosphate galactose-4-epimerase deficiency
-
Walter, J.H., Roberts, R.E., Besley, G.T., Wraith, J.E., Cleary, M.A., Holton, J.B. and MacFaul, R. (1999) Generalised uridine diphosphate galactose-4-epimerase deficiency. Arch. Dis. Child., 80, 374-376.
-
(1999)
Arch. Dis. Child
, vol.80
, pp. 374-376
-
-
Walter, J.H.1
Roberts, R.E.2
Besley, G.T.3
Wraith, J.E.4
Cleary, M.A.5
Holton, J.B.6
MacFaul, R.7
-
32
-
-
0031821733
-
Molecular characterization of a unique patient with epimerase-deficiency galactosaemia
-
Alano, A., Almashanu, S., Chinsky, J.M., Costeas, P., Blitzer, M.G., Wulfsberg, E.A. and Cowan, T.M. (1998) Molecular characterization of a unique patient with epimerase-deficiency galactosaemia. J. Inherit. Metab. Dis., 21, 341-350.
-
(1998)
J. Inherit. Metab. Dis
, vol.21
, pp. 341-350
-
-
Alano, A.1
Almashanu, S.2
Chinsky, J.M.3
Costeas, P.4
Blitzer, M.G.5
Wulfsberg, E.A.6
Cowan, T.M.7
-
33
-
-
84863647213
-
UDP-galactose 4'-epimerase activities toward UDPGal and UDP-GalNAc play different roles in the development of Drosophila melanogaster
-
Daenzer, J.M., Sanders, R.D., Hang, D. and Fridovich-Keil, J.L. (2012) UDP-galactose 4'-epimerase activities toward UDPGal and UDP-GalNAc play different roles in the development of Drosophila melanogaster. PLoS Genet., 8, e1002721.
-
(2012)
PLoS Genet
, vol.8
-
-
Daenzer, J.M.1
Sanders, R.D.2
Hang, D.3
Fridovich-Keil, J.L.4
-
34
-
-
77956531695
-
UDP-galactose 4' epimerase (GALE) is essential for development of Drosophila melanogaster
-
Sanders, R.D., Sefton, J.M., Moberg, K.H. and Fridovich-Keil, J.L. (2010) UDP-galactose 4' epimerase (GALE) is essential for development of Drosophila melanogaster. Dis. Model Mech., 3, 628-638.
-
(2010)
Dis. Model Mech
, vol.3
, pp. 628-638
-
-
Sanders, R.D.1
Sefton, J.M.2
Moberg, K.H.3
Fridovich-Keil, J.L.4
-
35
-
-
84915733921
-
Developmental defects in a Caenorhabditis elegans model for type III galactosemia
-
Brokate-Llanos, A.M., Monje, J.M., Murdoch Pdel, S. and Munoz, M.J. (2014) Developmental defects in a Caenorhabditis elegans model for type III galactosemia. Genetics., 198, 1559-1569.
-
(2014)
Genetics
, vol.198
, pp. 1559-1569
-
-
Brokate-Llanos, A.M.1
Monje, J.M.2
Murdoch Pdel, S.3
Munoz, M.J.4
-
36
-
-
84858726202
-
Motor neuron apoptosis and neuromuscular junction perturbation are prominent features in a Drosophila model of Fusmediated ALS
-
Xia, R., Liu, Y., Yang, L., Gal, J., Zhu, H. and Jia, J. (2012) Motor neuron apoptosis and neuromuscular junction perturbation are prominent features in a Drosophila model of Fusmediated ALS. Mol. Neurodegener., 7, 10.
-
(2012)
Mol. Neurodegener
, vol.7
, pp. 10
-
-
Xia, R.1
Liu, Y.2
Yang, L.3
Gal, J.4
Zhu, H.5
Jia, J.6
-
37
-
-
79951573512
-
Neuromuscular junction defects in mice with mutation of dynein heavy chain 1
-
Courchesne, S.L., Pazyra-Murphy, M.F., Lee, D.J. and Segal, R.A. (2011) Neuromuscular junction defects in mice with mutation of dynein heavy chain 1. PLoS One, 6, e16753.
-
(2011)
PLoS One
, vol.6
-
-
Courchesne, S.L.1
Pazyra-Murphy, M.F.2
Lee, D.J.3
Segal, R.A.4
-
38
-
-
0037444805
-
A point mutation in the UDP-glucose pyrophosphorylase gene results in decreases of UDP-glucose and inactivation of glycogen synthase
-
Higuita, J.C., Alape-Giron, A., Thelestam, M. and Katz, A. (2003) A point mutation in the UDP-glucose pyrophosphorylase gene results in decreases of UDP-glucose and inactivation of glycogen synthase. Biochem. J., 370, 995-1001.
-
(2003)
Biochem. J
, vol.370
, pp. 995-1001
-
-
Higuita, J.C.1
Alape-Giron, A.2
Thelestam, M.3
Katz, A.4
-
39
-
-
0030792845
-
Cellular UDP-glucose deficiency caused by a single point mutation in the UDP-glucose pyrophosphorylase gene
-
Flores-Diaz, M., Alape-Giron, A., Persson, B., Pollesello, P., Moos, M., von Eichel-Streiber, C., Thelestam, M. and Florin, I. (1997) Cellular UDP-glucose deficiency caused by a single point mutation in the UDP-glucose pyrophosphorylase gene. J. Biol. Chem., 272, 23784-23791.
-
(1997)
J. Biol. Chem
, vol.272
, pp. 23784-23791
-
-
Flores-Diaz, M.1
Alape-Giron, A.2
Persson, B.3
Pollesello, P.4
Moos, M.5
von Eichel-Streiber, C.6
Thelestam, M.7
Florin, I.8
-
40
-
-
0032544344
-
UDP-glucose deficiency causes hypersensitivity to the cytotoxic effect of Clostridium perfringens phospholipase C
-
Flores-Diaz, M., Alape-Giron, A., Titball, R.W., Moos, M., Guillouard, I., Cole, S., Howells, A.M., von Eichel-Streiber, C., Florin, I. and Thelestam, M. (1998) UDP-glucose deficiency causes hypersensitivity to the cytotoxic effect of Clostridium perfringens phospholipase C. J. Biol. Chem., 273, 24433-24438.
-
(1998)
J. Biol. Chem
, vol.273
, pp. 24433-24438
-
-
Flores-Diaz, M.1
Alape-Giron, A.2
Titball, R.W.3
Moos, M.4
Guillouard, I.5
Cole, S.6
Howells, A.M.7
von Eichel-Streiber, C.8
Florin, I.9
Thelestam, M.10
-
41
-
-
0030860202
-
Physiological and morphological effects of genetic alterations leading to a reduced synthesis of UDP-glucose in Saccharomyces cerevisiae
-
Daran, J.M., Bell, W. and Francois, J. (1997) Physiological and morphological effects of genetic alterations leading to a reduced synthesis of UDP-glucose in Saccharomyces cerevisiae. FEMS Microbiol. Lett., 153, 89-96.
-
(1997)
FEMS Microbiol. Lett
, vol.153
, pp. 89-96
-
-
Daran, J.M.1
Bell, W.2
Francois, J.3
-
42
-
-
3142686745
-
The BDGP gene disruption project: single transposon insertions associated with 40% of Drosophila genes
-
Bellen, H.J., Levis, R.W., Liao, G., He, Y., Carlson, J.W., Tsang, G., Evans-Holm, M., Hiesinger, P.R., Schulze, K.L., Rubin, G.M., et al. (2004) The BDGP gene disruption project: single transposon insertions associated with 40% of Drosophila genes. Genetics, 167, 761-781.
-
(2004)
Genetics
, vol.167
, pp. 761-781
-
-
Bellen, H.J.1
Levis, R.W.2
Liao, G.3
He, Y.4
Carlson, J.W.5
Tsang, G.6
Evans-Holm, M.7
Hiesinger, P.R.8
Schulze, K.L.9
Rubin, G.M.10
-
43
-
-
0342299882
-
The Drosophila sugarless gene modulates Wingless signaling and encodes an enzyme involved in polysaccharide biosynthesis
-
Hacker, U., Lin, X. and Perrimon, N. (1997) The Drosophila sugarless gene modulates Wingless signaling and encodes an enzyme involved in polysaccharide biosynthesis. Development, 124, 3565-3573.
-
(1997)
Development
, vol.124
, pp. 3565-3573
-
-
Hacker, U.1
Lin, X.2
Perrimon, N.3
-
44
-
-
25844445924
-
Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia
-
Sturiale, L., Barone, R., Fiumara, A., Perez, M., Zaffanello, M., Sorge, G., Pavone, L., Tortorelli, S., O'Brien, J.F., Jaeken, J. and Garozzo, D. (2005) Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia. Glycobiology, 15, 1268-1276.
-
(2005)
Glycobiology
, vol.15
, pp. 1268-1276
-
-
Sturiale, L.1
Barone, R.2
Fiumara, A.3
Perez, M.4
Zaffanello, M.5
Sorge, G.6
Pavone, L.7
Tortorelli, S.8
O'Brien, J.F.9
Jaeken, J.10
Garozzo, D.11
-
45
-
-
72249094196
-
Metabolism, cell surface organization, and disease
-
Dennis, J.W., Nabi, I.R. and Demetriou, M. (2009) Metabolism, cell surface organization, and disease. Cell, 139, 1229-1241.
-
(2009)
Cell
, vol.139
, pp. 1229-1241
-
-
Dennis, J.W.1
Nabi, I.R.2
Demetriou, M.3
-
46
-
-
0037066744
-
Drosophila segment polarity gene product porcupine stimulates the posttranslational N-glycosylation of wingless in the endoplasmic reticulum
-
Tanaka, K., Kitagawa, Y. and Kadowaki, T. (2002) Drosophila segment polarity gene product porcupine stimulates the posttranslational N-glycosylation of wingless in the endoplasmic reticulum. J. Biol. Chem., 277, 12816-12823.
-
(2002)
J. Biol. Chem
, vol.277
, pp. 12816-12823
-
-
Tanaka, K.1
Kitagawa, Y.2
Kadowaki, T.3
-
47
-
-
0033710887
-
Drosophila Futsch regulates synaptic microtubule organization and is necessary for synaptic growth
-
Roos, J., Hummel, T., Ng, N., Klambt, C. and Davis, G.W. (2000) Drosophila Futsch regulates synaptic microtubule organization and is necessary for synaptic growth. Neuron, 26, 371-382.
-
(2000)
Neuron
, vol.26
, pp. 371-382
-
-
Roos, J.1
Hummel, T.2
Ng, N.3
Klambt, C.4
Davis, G.W.5
-
48
-
-
0036848075
-
The Drosophila Wnt, wingless, provides an essential signal for pre-and postsynaptic differentiation
-
Packard, M., Koo, E.S., Gorczyca, M., Sharpe, J., Cumberledge, S. and Budnik, V. (2002) The Drosophila Wnt, wingless, provides an essential signal for pre-and postsynaptic differentiation. Cell, 111, 319-330.
-
(2002)
Cell
, vol.111
, pp. 319-330
-
-
Packard, M.1
Koo, E.S.2
Gorczyca, M.3
Sharpe, J.4
Cumberledge, S.5
Budnik, V.6
-
49
-
-
84903770188
-
Postsynaptic assembly: a role for Wnt signaling
-
Stamatakou, E. and Salinas, P.C. (2014) Postsynaptic assembly: a role for Wnt signaling. Dev. Neurobiol., 74, 818-827.
-
(2014)
Dev. Neurobiol
, vol.74
, pp. 818-827
-
-
Stamatakou, E.1
Salinas, P.C.2
-
50
-
-
84863934220
-
Wnt signaling in neuromuscular junction development
-
Koles, K. and Budnik, V. (2012) Wnt signaling in neuromuscular junction development. Cold Spring Harb. Perspect Biol., 4, pii: a008045.
-
(2012)
Cold Spring Harb. Perspect Biol
, vol.4
-
-
Koles, K.1
Budnik, V.2
-
51
-
-
84893869670
-
N-glycan abnormalities in childrenwith galactosemia
-
Coss, K.P., Hawkes, C.P., Adamczyk, B., Stockmann, H., Crushell, E., Saldova, R., Knerr, I., Rubio-Gozalbo, M.E., Monaravi, A.A., Rudd, P.M. and Treacy, E.P. (2014) N-glycan abnormalities in childrenwith galactosemia. J. Proteome Res., 13, 385-394.
-
(2014)
J. Proteome Res
, vol.13
, pp. 385-394
-
-
Coss, K.P.1
Hawkes, C.P.2
Adamczyk, B.3
Stockmann, H.4
Crushell, E.5
Saldova, R.6
Knerr, I.7
Rubio-Gozalbo, M.E.8
Monaravi, A.A.9
Rudd, P.M.10
Treacy, E.P.11
-
52
-
-
84859849103
-
Neurology of inherited glycosylation disorders
-
Freeze, H.H., Eklund, E.A., Ng, B.G. and Patterson, M.C. Neurology of inherited glycosylation disorders. Lancet Neurol., 11, 453-466.
-
Lancet Neurol
, vol.11
, pp. 453-466
-
-
Freeze, H.H.1
Eklund, E.A.2
Ng, B.G.3
Patterson, M.C.4
-
53
-
-
0002636585
-
-
Eighth ed., McGraw Hill
-
Holton, J.B., Walter, J.H. and Tyfield, L.A. (2000). Metabolic and Molecular Bases of Inherited Disease, Eighth ed., McGraw Hill, 1553-1587.
-
(2000)
Metabolic and Molecular Bases of Inherited Disease
, pp. 1553-1587
-
-
Holton, J.B.1
Walter, J.H.2
Tyfield, L.A.3
-
54
-
-
0033745216
-
Studies of the V94M-substituted human UDPgalactose-4-epimerase enzyme associated with generalized epimerase-deficiency galactosaemia
-
Wohlers, T.M. and Fridovich-Keil, J.L. (2000) Studies of the V94M-substituted human UDPgalactose-4-epimerase enzyme associated with generalized epimerase-deficiency galactosaemia. J. Inherit. Metab. Dis., 23, 713-729.
-
(2000)
J. Inherit. Metab. Dis
, vol.23
, pp. 713-729
-
-
Wohlers, T.M.1
Fridovich-Keil, J.L.2
-
55
-
-
77956536754
-
A Drosophila melanogaster model of classic galactosemia
-
Kushner, R.F., Ryan, E.L., Sefton, J.M., Sanders, R.D., Lucioni, P.J., Moberg, K.H. and Fridovich-Keil, J.L. (2010) A Drosophila melanogaster model of classic galactosemia. Dis. Model Mech., 3, 618-627.
-
(2010)
Dis. Model Mech
, vol.3
, pp. 618-627
-
-
Kushner, R.F.1
Ryan, E.L.2
Sefton, J.M.3
Sanders, R.D.4
Lucioni, P.J.5
Moberg, K.H.6
Fridovich-Keil, J.L.7
-
56
-
-
0035341502
-
A novel member of the Ig superfamily, turtle, is a CNSspecific protein required for coordinated motor control
-
Bodily, K.D., Morrison, C.M., Renden, R.B. and Broadie, K. (2001) A novel member of the Ig superfamily, turtle, is a CNSspecific protein required for coordinated motor control. J. Neurosci., 21, 3113-3125.
-
(2001)
J. Neurosci
, vol.21
, pp. 3113-3125
-
-
Bodily, K.D.1
Morrison, C.M.2
Renden, R.B.3
Broadie, K.4
-
57
-
-
0035112287
-
The acquisition of motoneuron subtype identity and motor circuit formation
-
Landmesser, L.T. (2001) The acquisition of motoneuron subtype identity and motor circuit formation. Int. J. Dev. Neurosci., 19, 175-182.
-
(2001)
Int. J. Dev. Neurosci
, vol.19
, pp. 175-182
-
-
Landmesser, L.T.1
-
58
-
-
0029920614
-
The Leloir pathway: a mechanistic imperative for three enzymes to change the stereochemical configuration of a single carbon in galactose
-
Frey, P.A. (1996) The Leloir pathway: a mechanistic imperative for three enzymes to change the stereochemical configuration of a single carbon in galactose. FASEB J., 10, 461-470.
-
(1996)
FASEB J
, vol.10
, pp. 461-470
-
-
Frey, P.A.1
-
59
-
-
0034630727
-
Overexpression of human UDPglucose pyrophosphorylase rescues galactose-1-phosphate uridyltransferase-deficient yeast
-
Lai, K. and Elsas, L.J. (2000) Overexpression of human UDPglucose pyrophosphorylase rescues galactose-1-phosphate uridyltransferase-deficient yeast. Biochem. Biophys. Res. Commun., 271, 392-400.
-
(2000)
Biochem. Biophys. Res. Commun
, vol.271
, pp. 392-400
-
-
Lai, K.1
Elsas, L.J.2
-
60
-
-
0033118555
-
Watching a synapse grow: noninvasive confocal imaging of synaptic growth in Drosophila
-
Zito, K., Parnas, D., Fetter, R.D., Isacoff, E.Y. and Goodman, C.S. (1999) Watching a synapse grow: noninvasive confocal imaging of synaptic growth in Drosophila. Neuron, 22, 719-729.
-
(1999)
Neuron
, vol.22
, pp. 719-729
-
-
Zito, K.1
Parnas, D.2
Fetter, R.D.3
Isacoff, E.Y.4
Goodman, C.S.5
-
61
-
-
84867012098
-
Analysis of synaptic growth and function in Drosophila with an extended larval stage
-
Miller, D.L., Ballard, S.L. and Ganetzky, B. (2012) Analysis of synaptic growth and function in Drosophila with an extended larval stage. J. Neurosci., 32, 13776-13786.
-
(2012)
J. Neurosci
, vol.32
, pp. 13776-13786
-
-
Miller, D.L.1
Ballard, S.L.2
Ganetzky, B.3
-
62
-
-
0022527678
-
Reversible defects in O-linked glycosylation and LDL receptor expression in a UDP-Gal/UDP-GalNAc 4-epimerase deficient mutant
-
Kingsley, D.M., Kozarsky, K.F., Hobbie, L. and Krieger, M. (1986) Reversible defects in O-linked glycosylation and LDL receptor expression in a UDP-Gal/UDP-GalNAc 4-epimerase deficient mutant. Cell., 44, 749-759.
-
(1986)
Cell
, vol.44
, pp. 749-759
-
-
Kingsley, D.M.1
Kozarsky, K.F.2
Hobbie, L.3
Krieger, M.4
-
63
-
-
17144423209
-
Mediators of galactose sensitivity in UDPgalactose 40-epimerase-impaired mammalian cells
-
Schulz, J., Ross, K., Malmstrom, K., Krieger, M. and Fridovich-Keil, J. (2005) Mediators of galactose sensitivity in UDPgalactose 40-epimerase-impaired mammalian cells. J. Biol. Chem., 280, 13493-13502.
-
(2005)
J. Biol. Chem
, vol.280
, pp. 13493-13502
-
-
Schulz, J.1
Ross, K.2
Malmstrom, K.3
Krieger, M.4
Fridovich-Keil, J.5
-
64
-
-
0001479717
-
Galactose metabolism and cell "sociology"
-
Kalckar, H.M. (1965) Galactose metabolism and cell "sociology". Science, 150, 305-313.
-
(1965)
Science
, vol.150
, pp. 305-313
-
-
Kalckar, H.M.1
-
65
-
-
84961859322
-
Metabolic Reprogramming by Hexosamine Biosynthetic and Golgi N-Glycan Branching Pathways
-
Ryczko, M., Pawling, J., Chen, R., Abdel Rahman, A.M., Yau, K., Copeland, J.K., Zhang, C., Surendra, A., Guttman, D.S., Figeys, D. and Dennis, J.W. (2016) Metabolic Reprogramming by Hexosamine Biosynthetic and Golgi N-Glycan Branching Pathways. Scientific Reports, 6, 23043.
-
(2016)
Scientific Reports
, vol.6
, pp. 23043
-
-
Ryczko, M.1
Pawling, J.2
Chen, R.3
Abdel Rahman, A.M.4
Yau, K.5
Copeland, J.K.6
Zhang, C.7
Surendra, A.8
Guttman, D.S.9
Figeys, D.10
Dennis, J.W.11
-
66
-
-
33846854871
-
Synaptic development: insights from Drosophila
-
Collins, C.A. and DiAntonio, A. (2007) Synaptic development: insights from Drosophila. Curr. Opin. Neurobiol., 17, 35-42.
-
(2007)
Curr. Opin. Neurobiol
, vol.17
, pp. 35-42
-
-
Collins, C.A.1
DiAntonio, A.2
-
67
-
-
58149334854
-
Presynaptic local signaling by a canonical wingless pathway regulates development of the Drosophila neuromuscular junction
-
Miech, C., Pauer, H.U., He, X. and Schwarz, T.L. (2008) Presynaptic local signaling by a canonical wingless pathway regulates development of the Drosophila neuromuscular junction. J. Neurosci., 28, 10875-10884.
-
(2008)
J. Neurosci
, vol.28
, pp. 10875-10884
-
-
Miech, C.1
Pauer, H.U.2
He, X.3
Schwarz, T.L.4
-
68
-
-
14844365003
-
Drosophila glypicans Dally and Dally-like shape the extracellular Wingless morphogen gradient in the wing disc
-
Han, C., Yan, D., Belenkaya, T.Y. and Lin, X. (2005) Drosophila glypicans Dally and Dally-like shape the extracellular Wingless morphogen gradient in the wing disc. Development., 132, 667-679.
-
(2005)
Development
, vol.132
, pp. 667-679
-
-
Han, C.1
Yan, D.2
Belenkaya, T.Y.3
Lin, X.4
-
69
-
-
5044250261
-
Spatial regulation of Wingless morphogen distribution and signaling by Dally-like protein
-
Kirkpatrick, C.A., Dimitroff, B.D., Rawson, J.M. and Selleck, S.B. (2004) Spatial regulation of Wingless morphogen distribution and signaling by Dally-like protein. Dev. Cell., 7, 513-523.
-
(2004)
Dev. Cell
, vol.7
, pp. 513-523
-
-
Kirkpatrick, C.A.1
Dimitroff, B.D.2
Rawson, J.M.3
Selleck, S.B.4
-
70
-
-
3242769327
-
Shaggy, the homolog of glycogen synthase kinase 3, controls neuromuscular junction growth in Drosophila
-
Franco, B., Bogdanik, L., Bobinnec, Y., Debec, A., Bockaert, J., Parmentier, M.L. and Grau, Y. (2004) Shaggy, the homolog of glycogen synthase kinase 3, controls neuromuscular junction growth in Drosophila. J. Neurosci., 24, 6573-6577.
-
(2004)
J. Neurosci
, vol.24
, pp. 6573-6577
-
-
Franco, B.1
Bogdanik, L.2
Bobinnec, Y.3
Debec, A.4
Bockaert, J.5
Parmentier, M.L.6
Grau, Y.7
-
71
-
-
70349986968
-
The core protein of glypican Dally-like determines its biphasic activity in wingless morphogen signaling
-
Yan, D., Wu, Y., Feng, Y., Lin, S.C. and Lin, X. (2009) The core protein of glypican Dally-like determines its biphasic activity in wingless morphogen signaling. Dev. Cell., 17, 470-481.
-
(2009)
Dev. Cell
, vol.17
, pp. 470-481
-
-
Yan, D.1
Wu, Y.2
Feng, Y.3
Lin, S.C.4
Lin, X.5
-
72
-
-
5044249440
-
Opposing activities of Dally-like glypican at high and low levels of Wingless morphogen activity
-
Kreuger, J., Perez, L., Giraldez, A.J. and Cohen, S.M. (2004) Opposing activities of Dally-like glypican at high and low levels of Wingless morphogen activity. Dev. Cell, 7, 503-512.
-
(2004)
Dev. Cell
, vol.7
, pp. 503-512
-
-
Kreuger, J.1
Perez, L.2
Giraldez, A.J.3
Cohen, S.M.4
-
73
-
-
84863589158
-
Structure-function analysis of endogenous lectin mind-thegap in synaptogenesis
-
Rushton, E., Rohrbough, J., Deutsch, K. and Broadie, K. (2012) Structure-function analysis of endogenous lectin mind-thegap in synaptogenesis. Dev. Neurobiol., 72, 1161-1179.
-
(2012)
Dev. Neurobiol
, vol.72
, pp. 1161-1179
-
-
Rushton, E.1
Rohrbough, J.2
Deutsch, K.3
Broadie, K.4
-
74
-
-
0036340095
-
Electrophysiological analysis of synaptic transmission in central neurons of Drosophila larvae
-
Rohrbough, J. and Broadie, K. (2002) Electrophysiological analysis of synaptic transmission in central neurons of Drosophila larvae. J. Neurophysiol., 88, 847-860.
-
(2002)
J. Neurophysiol
, vol.88
, pp. 847-860
-
-
Rohrbough, J.1
Broadie, K.2
-
75
-
-
28144441697
-
Wingless signaling at synapses is through cleavage and nuclear import of receptor DFrizzled2
-
Mathew, D., Ataman, B., Chen, J., Zhang, Y., Cumberledge, S. and Budnik, V. (2005) Wingless signaling at synapses is through cleavage and nuclear import of receptor DFrizzled2. Science, 310, 1344-1347.
-
(2005)
Science
, vol.310
, pp. 1344-1347
-
-
Mathew, D.1
Ataman, B.2
Chen, J.3
Zhang, Y.4
Cumberledge, S.5
Budnik, V.6
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