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Volumn 54, Issue 10, 2010, Pages 929-937

Analysis of N- and O-linked protein glycosylation in children with Prader-Willi syndrome

Author keywords

Mass spectrometry; Prader Willi syndrome; Protein glycosylation

Indexed keywords

APOLIPOPROTEIN C3; ASPARAGINE LINKED OLIGOSACCHARIDE; TRANSFERRIN;

EID: 77956792736     PISSN: 09642633     EISSN: 13652788     Source Type: Journal    
DOI: 10.1111/j.1365-2788.2010.01323.x     Document Type: Article
Times cited : (2)

References (27)
  • 1
    • 66149125985 scopus 로고    scopus 로고
    • Mass spectrmetry in the characterization of human genetic glycosylation defects
    • Barone R, Sturiale L, Garozzo D. Mass spectrmetry in the characterization of human genetic glycosylation defects. Mass Spectrometry Reviews 2009, 28:517-42.
    • (2009) Mass Spectrometry Reviews , vol.28 , pp. 517-542
    • Barone, R.1    Sturiale, L.2    Garozzo, D.3
  • 2
    • 33750128290 scopus 로고    scopus 로고
    • Expression of 4 genes between chromosome 15 breakpoints 1 and 2 and behaviour outcomes in Prader-Willi Syndrome
    • Bittle D C, Kibiryeva N, Butler M G. Expression of 4 genes between chromosome 15 breakpoints 1 and 2 and behaviour outcomes in Prader-Willi Syndrome. Pediatrics 2006, 118:e1276-e1283.
    • (2006) Pediatrics , vol.118
    • Bittle, D.C.1    Kibiryeva, N.2    Butler, M.G.3
  • 5
    • 1442323876 scopus 로고    scopus 로고
    • Behavioural differences among subjects with Prader-Willi syndrome and type I or type II deletion and maternal disomy
    • Butler M G, Bittel D C, Kibiryeva N, Talebizadeh Z, Thompson T. Behavioural differences among subjects with Prader-Willi syndrome and type I or type II deletion and maternal disomy. Pediatrics 2004, 113:565-73.
    • (2004) Pediatrics , vol.113 , pp. 565-573
    • Butler, M.G.1    Bittel, D.C.2    Kibiryeva, N.3    Talebizadeh, Z.4    Thompson, T.5
  • 7
    • 0142027581 scopus 로고    scopus 로고
    • Identification of four highly conserved genes between breakpoint hotspots BP1 and BP2 of the Prader-Willi/Angelman syndromes deletion region that have undergone evolutionary transposition mediated by flanking duplicons
    • Chai J H, Locke D P, Greally J M, Knoll J H, Ohta T, Dunai J. Identification of four highly conserved genes between breakpoint hotspots BP1 and BP2 of the Prader-Willi/Angelman syndromes deletion region that have undergone evolutionary transposition mediated by flanking duplicons. American Journal of Human Genetics 2003, 73:898-925.
    • (2003) American Journal of Human Genetics , vol.73 , pp. 898-925
    • Chai, J.H.1    Locke, D.P.2    Greally, J.M.3    Knoll, J.H.4    Ohta, T.5    Dunai, J.6    et al7
  • 8
    • 34547594864 scopus 로고    scopus 로고
    • Prader-Willi syndrome: an update and review for the primary paediatrician
    • Chen C, Visootsak J, Dills S, Graham J. Prader-Willi syndrome: an update and review for the primary paediatrician. Clinical Pediatrics 2007, 46:580-91.
    • (2007) Clinical Pediatrics , vol.46 , pp. 580-591
    • Chen, C.1    Visootsak, J.2    Dills, S.3    Graham, J.4
  • 10
    • 0028786087 scopus 로고
    • Frequency of the Prader-Willi syndrome in the San-in district, Japan
    • Ehara H, Ohno K, Takeshita K. Frequency of the Prader-Willi syndrome in the San-in district, Japan. Brain & Development 1995, 17:324-6.
    • (1995) Brain & Development , vol.17 , pp. 324-326
    • Ehara, H.1    Ohno, K.2    Takeshita, K.3
  • 12
    • 36249013117 scopus 로고    scopus 로고
    • Altered distribution of adiponectin isoforms in children with Prader-Willi syndrome (PWS): association with insulin sensitivity and circulating satiety peptide hormones
    • Haqq A M, Muehlbauer M, Svetkey L P, Newgard C B, Purnell J Q, Grambow S C. Altered distribution of adiponectin isoforms in children with Prader-Willi syndrome (PWS): association with insulin sensitivity and circulating satiety peptide hormones. Clinical Endocrinology 2007, 67:944-51.
    • (2007) Clinical Endocrinology , vol.67 , pp. 944-951
    • Haqq, A.M.1    Muehlbauer, M.2    Svetkey, L.P.3    Newgard, C.B.4    Purnell, J.Q.5    Grambow, S.C.6    et al7
  • 13
    • 0037208057 scopus 로고    scopus 로고
    • Behavioural phenotypes associated with specific genetic disorders: evidence from a population-based study of people with Prader-Willi syndrome
    • Holland A J, Whittington J E, Butler J, Webb T, Boer H, Clarke D. Behavioural phenotypes associated with specific genetic disorders: evidence from a population-based study of people with Prader-Willi syndrome. Psychological Medicine 2003, 33:141-53.
    • (2003) Psychological Medicine , vol.33 , pp. 141-153
    • Holland, A.J.1    Whittington, J.E.2    Butler, J.3    Webb, T.4    Boer, H.5    Clarke, D.6
  • 16
    • 0032897757 scopus 로고    scopus 로고
    • Imprinting of a RING zinc-finger encoding gene in the mouse chromosome region homologous to the Prader-Willi syndrome genetic region
    • Jong M, Carey A, Caldwell K, Lau M, Handel M, Driscoll D. Imprinting of a RING zinc-finger encoding gene in the mouse chromosome region homologous to the Prader-Willi syndrome genetic region. Human Molecular Genetics 1999, 8:795-803.
    • (1999) Human Molecular Genetics , vol.8 , pp. 795-803
    • Jong, M.1    Carey, A.2    Caldwell, K.3    Lau, M.4    Handel, M.5    Driscoll, D.6    et al7
  • 17
    • 0014949207 scopus 로고
    • Cleavage of structural proteins during the assembly of the head of bacteriophage T4
    • Laemmli U. Cleavage of structural proteins during the assembly of the head of bacteriophage T4. Nature 1960, 227:680.
    • (1960) Nature , vol.227 , pp. 680
    • Laemmli, U.1
  • 19
    • 0031450209 scopus 로고    scopus 로고
    • Inhibitory effects of specific apolipoprotein C-III isoforms on the binding of triglyceride-rich lipoproteins to the lipolysis-stimulated receptor
    • Mann C J, Troussard A A, Yen F T, Hannouche N, Najib J, Fruchart J-C. Inhibitory effects of specific apolipoprotein C-III isoforms on the binding of triglyceride-rich lipoproteins to the lipolysis-stimulated receptor. The Journal of Biological Chemistry 1997, 272:31348-54.
    • (1997) The Journal of Biological Chemistry , vol.272 , pp. 31348-31354
    • Mann, C.J.1    Troussard, A.A.2    Yen, F.T.3    Hannouche, N.4    Najib, J.5    Fruchart, J.-C.6    et al7
  • 20
    • 42549109081 scopus 로고    scopus 로고
    • Apolipoprotein C-III: understanding an emerging cardiovascular risk factor
    • Ooi E M, Barrett P H, Chan D C, Watts G F. Apolipoprotein C-III: understanding an emerging cardiovascular risk factor. Clinical Science (Lond) 2008, 114:611-24.
    • (2008) Clinical Science (Lond) , vol.114 , pp. 611-624
    • Ooi, E.M.1    Barrett, P.H.2    Chan, D.C.3    Watts, G.F.4
  • 21
    • 44349191455 scopus 로고    scopus 로고
    • Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster
    • Sahoo T, del Gaudio D, German J R, Shinawi M, Peters S U, Person R E. Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster. Nature Genetics 2008, 40:719-21.
    • (2008) Nature Genetics , vol.40 , pp. 719-721
    • Sahoo, T.1    del Gaudio, D.2    German, J.R.3    Shinawi, M.4    Peters, S.U.5    Person, R.E.6    et al7
  • 22
    • 10844221548 scopus 로고    scopus 로고
    • Site-specific carbohydrate profiling of human transferrin by nano-flow liquid chromatography/electrospray ionization mass spectrometry
    • Satomi Y, Shimonishi Y, Hase T, Takao T. Site-specific carbohydrate profiling of human transferrin by nano-flow liquid chromatography/electrospray ionization mass spectrometry. Rapid Communications in Mass Spectrometry 2004, 18:2983-8.
    • (2004) Rapid Communications in Mass Spectrometry , vol.18 , pp. 2983-2988
    • Satomi, Y.1    Shimonishi, Y.2    Hase, T.3    Takao, T.4
  • 24
    • 12744274907 scopus 로고    scopus 로고
    • Impact of molecular mechanisms, including deletion size, on Prader-Willi syndrome phenotype: study of 75 patients
    • Varela M C, Kok F, Setian N, Kim C A, Koiffmann C P. Impact of molecular mechanisms, including deletion size, on Prader-Willi syndrome phenotype: study of 75 patients. Clinical Genetics 2005, 67:47-52.
    • (2005) Clinical Genetics , vol.67 , pp. 47-52
    • Varela, M.C.1    Kok, F.2    Setian, N.3    Kim, C.A.4    Koiffmann, C.P.5
  • 25
    • 33847354287 scopus 로고    scopus 로고
    • Transferrin and apolipoprotein C-III Isofocusing are complementary in the diagnosis of N-and O-glycan biosynthesis defects
    • Wopereis S, Grunewald S, Huijben K, Morava E, Mollicone R, van Engelen B. Transferrin and apolipoprotein C-III Isofocusing are complementary in the diagnosis of N-and O-glycan biosynthesis defects. Clinical Chemistry 2007, 53:180-7.
    • (2007) Clinical Chemistry , vol.53 , pp. 180-187
    • Wopereis, S.1    Grunewald, S.2    Huijben, K.3    Morava, E.4    Mollicone, R.5    van Engelen, B.6    et al7
  • 27
    • 33751086773 scopus 로고    scopus 로고
    • Deficiency of Rbbp1/Arid4a and Rbbp111/Arid4b alters epigenetic modifications and suppresses an imprinting defect in the PWS/AS domain
    • 2006 Oct 15
    • Wu M Y, Tsai T F, Beaudet A L. Deficiency of Rbbp1/Arid4a and Rbbp111/Arid4b alters epigenetic modifications and suppresses an imprinting defect in the PWS/AS domain. Genes Dev 2006, 20(20):2859-70. 2006 Oct 15
    • (2006) Genes Dev , vol.20 , Issue.20 , pp. 2859-2870
    • Wu, M.Y.1    Tsai, T.F.2    Beaudet, A.L.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.