-
1
-
-
0036852712
-
Pharmacological prevention of Parkinson disease in Drosophila
-
COI: 1:CAS:528:DC%2BD38XotlWmtLg%3D
-
Auluck PK, Bonini NM (2002) Pharmacological prevention of Parkinson disease in Drosophila. Nat Med 8:1185–1186
-
(2002)
Nat Med
, vol.8
, pp. 1185-1186
-
-
Auluck, P.K.1
Bonini, N.M.2
-
2
-
-
84857530189
-
The protein disulfide isomerase family: key players in health and disease
-
COI: 1:CAS:528:DC%2BC38XivVyhs74%3D
-
Benham AM (2012) The protein disulfide isomerase family: key players in health and disease. Antioxid Redox Signal 16:781–789
-
(2012)
Antioxid Redox Signal
, vol.16
, pp. 781-789
-
-
Benham, A.M.1
-
3
-
-
0344254845
-
Expression of the mitotic kinesin Kif15 in postmitotic neurons: implications for neuronal migration and development
-
COI: 1:CAS:528:DC%2BD3sXosFOkur4%3D
-
Buster DW, Baird DH, Yu W et al (2003) Expression of the mitotic kinesin Kif15 in postmitotic neurons: implications for neuronal migration and development. J Neurocytol 32:79–96
-
(2003)
J Neurocytol
, vol.32
, pp. 79-96
-
-
Buster, D.W.1
Baird, D.H.2
Yu, W.3
-
4
-
-
33947165311
-
SUCLA2 mutations are associated with mild methylmalonicaciduria, Leigh-like encephalomyopathy, dystonia and deafness
-
Carrozzo R, Dionisi-Vici C, Steuerwald U et al (2007) SUCLA2 mutations are associated with mild methylmalonicaciduria, Leigh-like encephalomyopathy, dystonia and deafness. Brain 130:862–874
-
(2007)
Brain
, vol.130
, pp. 862-874
-
-
Carrozzo, R.1
Dionisi-Vici, C.2
Steuerwald, U.3
-
5
-
-
65249151895
-
Transcription factor TBX1 overexpression induces downregulation of proteins involved in retinoic acid metabolism: A comparative proteomic analysis
-
COI: 1:CAS:528:DC%2BD1MXhtFyrtbw%3D
-
Caterino M, Ruoppolo M, Fulcoli G et al (2009) Transcription factor TBX1 overexpression induces downregulation of proteins involved in retinoic acid metabolism: A comparative proteomic analysis. J Proteome Res 8:1515–1526
-
(2009)
J Proteome Res
, vol.8
, pp. 1515-1526
-
-
Caterino, M.1
Ruoppolo, M.2
Fulcoli, G.3
-
6
-
-
84875905978
-
Differential proteomic analysis in human cells subjected to ribosomal stress
-
COI: 1:CAS:528:DC%2BC3sXjs1CgtLY%3D
-
Caterino M, Corbo C, Imperlini E et al (2013) Differential proteomic analysis in human cells subjected to ribosomal stress. Proteomics 13:1220–1227
-
(2013)
Proteomics
, vol.13
, pp. 1220-1227
-
-
Caterino, M.1
Corbo, C.2
Imperlini, E.3
-
7
-
-
33646428923
-
Metabolic changes associated with hyperammonemia in patients with propionic acidemia
-
COI: 1:CAS:528:DC%2BD28Xks1Wrtrs%3D
-
Filipowicz HR, Ernst SL, Ashurst CL et al (2006) Metabolic changes associated with hyperammonemia in patients with propionic acidemia. Mol Genet Metab 88:123–130
-
(2006)
Mol Genet Metab
, vol.88
, pp. 123-130
-
-
Filipowicz, H.R.1
Ernst, S.L.2
Ashurst, C.L.3
-
9
-
-
70350622960
-
Mechanism of vitamin B12-responsiveness in cblCmethylmalonicaciduria with homocystinuria
-
COI: 1:CAS:528:DC%2BD1MXhtlymu77I
-
Froese DS, Zhang J, Healy S et al (2009) Mechanism of vitamin B12-responsiveness in cblCmethylmalonicaciduria with homocystinuria. Mol Genet Metab 98(4):338–343
-
(2009)
Mol Genet Metab
, vol.98
, Issue.4
, pp. 338-343
-
-
Froese, D.S.1
Zhang, J.2
Healy, S.3
-
10
-
-
20344369564
-
Annexins: Linking Ca2+ signalling to membrane dynamics
-
COI: 1:CAS:528:DC%2BD2MXks1Gmtbo%3D
-
Gerke V, Creutz CE, Moss SE (2005) Annexins: Linking Ca2+ signalling to membrane dynamics. Nat Rev Mol Cell Biol 6:449–461
-
(2005)
Nat Rev Mol Cell Biol
, vol.6
, pp. 449-461
-
-
Gerke, V.1
Creutz, C.E.2
Moss, S.E.3
-
11
-
-
0033990449
-
The alpha-ketoglutarate dehydrogenase complex in neurodegeneration
-
COI: 1:CAS:528:DC%2BD3cXotVynsg%3D%3D
-
Gibson GE, Park LC, Sheu KF et al (2000) The alpha-ketoglutarate dehydrogenase complex in neurodegeneration. Neurochem Int 36:97–112
-
(2000)
Neurochem Int
, vol.36
, pp. 97-112
-
-
Gibson, G.E.1
Park, L.C.2
Sheu, K.F.3
-
12
-
-
7944228563
-
The pathobiology of the septin gene family
-
Hall PA, Russell SE (2004) The pathobiology of the septin gene family. J Pathol 489-505
-
(2004)
J Pathol
, pp. 489-505
-
-
Hall, P.A.1
Russell, S.E.2
-
13
-
-
67649658036
-
Processing of alkylcobalamins in mammalian cells: a role for the MMACHC (cblC) gene product
-
COI: 1:CAS:528:DC%2BD1MXosV2ksrs%3D
-
Hannibal L, Kim J, Brasch NE et al (2009) Processing of alkylcobalamins in mammalian cells: a role for the MMACHC (cblC) gene product. Mol Genet Metab 97:260–266
-
(2009)
Mol Genet Metab
, vol.97
, pp. 260-266
-
-
Hannibal, L.1
Kim, J.2
Brasch, N.E.3
-
14
-
-
79958039796
-
The MMACHC proteome: Hallmarks of functional cobalamin deficiency in humans
-
COI: 1:CAS:528:DC%2BC3MXntV2hurs%3D
-
Hannibal L, DiBello P, Yu M et al (2011) The MMACHC proteome: Hallmarks of functional cobalamin deficiency in humans. Mol Genet Metab 103:226–239
-
(2011)
Mol Genet Metab
, vol.103
, pp. 226-239
-
-
Hannibal, L.1
DiBello, P.2
Yu, M.3
-
15
-
-
55749101940
-
Decyanation of vitamin B12 by a trafficking chaperone
-
COI: 1:CAS:528:DC%2BD1cXht1Sgt77J
-
Kim J, Gherasim C, Banerje R (2008) Decyanation of vitamin B12 by a trafficking chaperone. Proc Natl Acad Sci USA 105:14551–14554
-
(2008)
Proc Natl Acad Sci USA
, vol.105
, pp. 14551-14554
-
-
Kim, J.1
Gherasim, C.2
Banerje, R.3
-
16
-
-
0033678504
-
The cytoskeleton and related proteins in the human failing heart
-
COI: 1:CAS:528:DC%2BD3MXhsVKk
-
Kostin S, Hein S, Arnon E et al (2000) The cytoskeleton and related proteins in the human failing heart. Heart Fail Rev 5:271–280
-
(2000)
Heart Fail Rev
, vol.5
, pp. 271-280
-
-
Kostin, S.1
Hein, S.2
Arnon, E.3
-
17
-
-
84876406583
-
ACTN1 mutations cause congenital macrothrombocytopenia
-
COI: 1:CAS:528:DC%2BC3sXjtVShtbg%3D
-
Kunishima S, Okuno Y, Yoshida K et al (2013) ACTN1 mutations cause congenital macrothrombocytopenia. Am J Hum Genet 92:431–438
-
(2013)
Am J Hum Genet
, vol.92
, pp. 431-438
-
-
Kunishima, S.1
Okuno, Y.2
Yoshida, K.3
-
18
-
-
76649126249
-
Inhibition of lactate dehydrogenase A induces oxidative stress and inhibits tumor progression
-
COI: 1:CAS:528:DC%2BC3cXhvFCit7g%3D
-
Le A, Cooper CR, Gouw AM et al (2010) Inhibition of lactate dehydrogenase A induces oxidative stress and inhibits tumor progression. Proc Natl Acad Sci USA 107:2037–2042
-
(2010)
Proc Natl Acad Sci USA
, vol.107
, pp. 2037-2042
-
-
Le, A.1
Cooper, C.R.2
Gouw, A.M.3
-
19
-
-
29444451094
-
Identification of the gene responsible for methylmalonicaciduria and homocystinuria, cblC type
-
COI: 1:CAS:528:DC%2BD2MXhtlCmtr7L
-
Lerner-Ellis JP, Tirone JC, Pawelek PD et al (2006) Identification of the gene responsible for methylmalonicaciduria and homocystinuria, cblC type. Nat Genet 38:93–100
-
(2006)
Nat Genet
, vol.38
, pp. 93-100
-
-
Lerner-Ellis, J.P.1
Tirone, J.C.2
Pawelek, P.D.3
-
20
-
-
79959750832
-
Cobalamin C defect presenting as severe neonatal hyperammonemia
-
COI: 1:CAS:528:DC%2BC3MXnslSit78%3D
-
Martinelli D, Dotta A, Massella L et al (2011a) Cobalamin C defect presenting as severe neonatal hyperammonemia. Eur J Pediatr 170:887–890
-
(2011)
Eur J Pediatr
, vol.170
, pp. 887-890
-
-
Martinelli, D.1
Dotta, A.2
Massella, L.3
-
21
-
-
79955842585
-
Cobalamin C defect: natural history, pathophysiology, and treatment
-
COI: 1:CAS:528:DC%2BC3MXhtVKmurk%3D
-
Martinelli G, Deodato F, Dionisi-Vici C (2011b) Cobalamin C defect: natural history, pathophysiology, and treatment. J Inherit Metab Dis 34:127–135
-
(2011)
J Inherit Metab Dis
, vol.34
, pp. 127-135
-
-
Martinelli, G.1
Deodato, F.2
Dionisi-Vici, C.3
-
22
-
-
84880781675
-
Clinical and biochemical outcome after hydroxocobalamin dose escalation in a series of patients with cobalamin C deficiency
-
COI: 1:CAS:528:DC%2BC3sXptV2nt7g%3D
-
Matos IV, Castejón E, Meavilla S et al (2013) Clinical and biochemical outcome after hydroxocobalamin dose escalation in a series of patients with cobalamin C deficiency. Mol Genet Metab 109:360–365
-
(2013)
Mol Genet Metab
, vol.109
, pp. 360-365
-
-
Matos, I.V.1
Castejón, E.2
Meavilla, S.3
-
23
-
-
84883669771
-
A role of glutathione transferase Omega 1 (GSTO1-1) in the glutathionylation cycle
-
COI: 1:CAS:528:DC%2BC3sXhsVWqtrnN
-
Menon D, Board PG (2013) A role of glutathione transferase Omega 1 (GSTO1-1) in the glutathionylation cycle. J Biol Chem 288:25769–25779
-
(2013)
J Biol Chem
, vol.288
, pp. 25769-25779
-
-
Menon, D.1
Board, P.G.2
-
24
-
-
0022652473
-
Clinical heterogeneity in cobalamin C variant of combined homocystinuria and methylmalonicaciduria
-
COI: 1:STN:280:DyaL287ktlajug%3D%3D
-
Mitchell GA, Watkins D, Melançon SB (1986) Clinical heterogeneity in cobalamin C variant of combined homocystinuria and methylmalonicaciduria. J Pediatr 108:410–415
-
(1986)
J Pediatr
, vol.108
, pp. 410-415
-
-
Mitchell, G.A.1
Watkins, D.2
Melançon, S.B.3
-
25
-
-
33746280280
-
Combined methylmalonicaciduria and homocystinuria (cblC): phenotype-genotype correlations and ethnic-specific observations
-
COI: 1:CAS:528:DC%2BD28Xns1KjsrY%3D
-
Morel CF, Lerner-Ellis JP, Rosenblatt DS (2006) Combined methylmalonicaciduria and homocystinuria (cblC): phenotype-genotype correlations and ethnic-specific observations. Mol Genet Metab 88:315–321
-
(2006)
Mol Genet Metab
, vol.88
, pp. 315-321
-
-
Morel, C.F.1
Lerner-Ellis, J.P.2
Rosenblatt, D.S.3
-
26
-
-
0031926062
-
Fully automated assay for total homocysteine, cysteine, cysteinylglycine, glutathione, cysteamine, and 2-mercaptopropionylglycine in plasma and urine
-
COI: 1:CAS:528:DyaK1cXisFSitrg%3D
-
Pastore A, Massoud R, Motti C et al (1998) Fully automated assay for total homocysteine, cysteine, cysteinylglycine, glutathione, cysteamine, and 2-mercaptopropionylglycine in plasma and urine. Clin Chem 44:825–832
-
(1998)
Clin Chem
, vol.44
, pp. 825-832
-
-
Pastore, A.1
Massoud, R.2
Motti, C.3
-
27
-
-
84891837156
-
Glutathione metabolism in cobalamin deficiency type C (cblC)
-
COI: 1:CAS:528:DC%2BC2cXjtFOkuw%3D%3D
-
Pastore A, Martinelli D, Piemonte F et al (2014) Glutathione metabolism in cobalamin deficiency type C (cblC). J Inherit Metab Dis 37:125–129
-
(2014)
J Inherit Metab Dis
, vol.37
, pp. 125-129
-
-
Pastore, A.1
Martinelli, D.2
Piemonte, F.3
-
28
-
-
79960221714
-
Oxidative stress, inflammation and carcinogenesis are controlled through the pentose phosphate pathway by transaldolase
-
COI: 1:CAS:528:DC%2BC3MXptFaiurg%3D
-
Perl A, Hanczko R, Telarico T et al (2011) Oxidative stress, inflammation and carcinogenesis are controlled through the pentose phosphate pathway by transaldolase. Trends Mol Med 17:395–403
-
(2011)
Trends Mol Med
, vol.17
, pp. 395-403
-
-
Perl, A.1
Hanczko, R.2
Telarico, T.3
-
29
-
-
0028324464
-
Annexins: the problem of assessing the biological role for a gene family of multifunctional calcium- and phospholipid-binding proteins
-
COI: 1:CAS:528:DyaK2cXivFahsro%3D
-
Raynal P, Pollard HB (1994) Annexins: the problem of assessing the biological role for a gene family of multifunctional calcium- and phospholipid-binding proteins. Biochim Biophys Acta 1197:63–93
-
(1994)
Biochim Biophys Acta
, vol.1197
, pp. 63-93
-
-
Raynal, P.1
Pollard, H.B.2
-
30
-
-
23644450563
-
Assessment of visual function in children with methylmalonicaciduria and homocystinuria
-
COI: 1:STN:280:DC%2BD2M3pvVGkuw%3D%3D
-
Ricci D, Pane M, Deodato F (2005) Assessment of visual function in children with methylmalonicaciduria and homocystinuria. Neuropediatrics 36:181–185
-
(2005)
Neuropediatrics
, vol.36
, pp. 181-185
-
-
Ricci, D.1
Pane, M.2
Deodato, F.3
-
31
-
-
77952885778
-
Succinate dehydrogenase- Assembly, regulation and role in human disease
-
COI: 1:CAS:528:DC%2BC3cXmtFCms7g%3D
-
Rutter J, Winge DR, Schiffman JD (2010) Succinate dehydrogenase- Assembly, regulation and role in human disease. Mitochondrion 10:393–401
-
(2010)
Mitochondrion
, vol.10
, pp. 393-401
-
-
Rutter, J.1
Winge, D.R.2
Schiffman, J.D.3
-
32
-
-
84905226830
-
Epigenetic influence and disease
-
Simmons D (2008) Epigenetic influence and disease. Nature Edu 1:6
-
(2008)
Nature Edu
, vol.1
, pp. 6
-
-
Simmons, D.1
-
33
-
-
0032493123
-
Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene
-
COI: 1:CAS:528:DyaK1cXjtF2nu78%3D
-
Stanley CA, Lieu YK, Hsu BY (1998) Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene. N Engl J Med 338:1352–1357
-
(1998)
N Engl J Med
, vol.338
, pp. 1352-1357
-
-
Stanley, C.A.1
Lieu, Y.K.2
Hsu, B.Y.3
-
34
-
-
0031474418
-
Contribution of somalLewy bodies to neuronal death
-
COI: 1:CAS:528:DyaK2sXnvVSnsLs%3D
-
Tompkins MM, Hill WD (1997) Contribution of somalLewy bodies to neuronal death. Brain Res 775:24–29
-
(1997)
Brain Res
, vol.775
, pp. 24-29
-
-
Tompkins, M.M.1
Hill, W.D.2
|