메뉴 건너뛰기




Volumn 136, Issue 2, 2017, Pages 143-150

Dysregulation of the Expression of Asparagine-Linked Glycosylation 13 Short Isoform 2 Affects Nephrin Function by Altering Its N-Linked Glycosylation

Author keywords

Focal segmental glomerulosclerosis; Gene expression; Genetic diseases; Neuropathy (epilepsy); Protein glycosylation; Urinary podocytes

Indexed keywords

ASPARAGINE; CALRETICULIN; GLYCOSYLTRANSFERASE; NEPHRIN; SMALL INTERFERING RNA; ALG13 PROTEIN, HUMAN; MEMBRANE PROTEIN; N ACETYLGLUCOSAMINYLTRANSFERASE;

EID: 85011933962     PISSN: 16608151     EISSN: 22353186     Source Type: Journal    
DOI: 10.1159/000455129     Document Type: Article
Times cited : (7)

References (20)
  • 1
    • 17744387572 scopus 로고    scopus 로고
    • Glomerular endothelial cell differentiation
    • Ballermann BJ: Glomerular endothelial cell differentiation. Kidney Int 2005; 67: 1668-1671.
    • (2005) Kidney Int , vol.67 , pp. 1668-1671
    • Ballermann, B.J.1
  • 2
    • 0037207471 scopus 로고    scopus 로고
    • Cell biology of the glomerular podocyte
    • Pavenstädt H, Kriz W, Kretzler M: Cell biology of the glomerular podocyte. Physiol Rev 2003; 83: 253-307.
    • (2003) Physiol Rev , vol.83 , pp. 253-307
    • Pavenstädt, H.1    Kriz, W.2    Kretzler, M.3
  • 3
    • 42149106794 scopus 로고    scopus 로고
    • The spectrum of focal segmental glomerulosclerosis: New insights
    • D'Agati VD: The spectrum of focal segmental glomerulosclerosis: new insights. Curr Opin Nephrol Hypertens 2008; 17: 271-281.
    • (2008) Curr Opin Nephrol Hypertens , vol.17 , pp. 271-281
    • D'Agati, V.D.1
  • 4
    • 34247869624 scopus 로고    scopus 로고
    • Genetics of focal segmental glomerulosclerosis
    • Woroniecki RP, Kopp JB: Genetics of focal segmental glomerulosclerosis. Pediatr Nephrol 2007; 22: 638-644.
    • (2007) Pediatr Nephrol , vol.22 , pp. 638-644
    • Woroniecki, R.P.1    Kopp, J.B.2
  • 5
    • 79960853642 scopus 로고    scopus 로고
    • Pathogenesis and therapy of focal segmental glomerulosclerosis: An update
    • Gbadegesin R, Lavin P, Foreman J, Winn M: Pathogenesis and therapy of focal segmental glomerulosclerosis: an update. Pediatr Nephrol 2011; 26: 1001-1015.
    • (2011) Pediatr Nephrol , vol.26 , pp. 1001-1015
    • Gbadegesin, R.1    Lavin, P.2    Foreman, J.3    Winn, M.4
  • 7
    • 73349132341 scopus 로고    scopus 로고
    • Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis
    • Brown EJ, Schlöndorff JS, Becker DJ, et al: Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis. Nat Genet 2010; 42: 72-76.
    • (2010) Nat Genet , vol.42 , pp. 72-76
    • Brown, E.J.1    Schlöndorff, J.S.2    Becker, D.J.3
  • 8
    • 79960877647 scopus 로고    scopus 로고
    • MYO1E mutations and childhood familial focal segmental glomerulosclerosis
    • Mele C, Iatropoulos P, Donadelli R, et al: MYO1E mutations and childhood familial focal segmental glomerulosclerosis. N Engl J Med 2011; 365: 295-306.
    • (2011) N Engl J Med , vol.365 , pp. 295-306
    • Mele, C.1    Iatropoulos, P.2    Donadelli, R.3
  • 9
    • 84882932882 scopus 로고    scopus 로고
    • Unique X-linked familial FSGS with co-segregating heart block disorder is associated with a mutation in the NXF5 gene
    • Esposito T, Lea RA, Maher BH, et al: Unique X-linked familial FSGS with co-segregating heart block disorder is associated with a mutation in the NXF5 gene. Hum Mol Genet 2013; 22: 3654-3666.
    • (2013) Hum Mol Genet , vol.22 , pp. 3654-3666
    • Esposito, T.1    Lea, R.A.2    Maher, B.H.3
  • 10
    • 77956259962 scopus 로고    scopus 로고
    • Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS)
    • Schoeb DS, Chernin G, Heeringa SF, et al: Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS). Nephrol Dial Transplant 2010; 25: 2970-2976.
    • (2010) Nephrol Dial Transplant , vol.25 , pp. 2970-2976
    • Schoeb, D.S.1    Chernin, G.2    Heeringa, S.F.3
  • 11
    • 79960747675 scopus 로고    scopus 로고
    • PiR-015520 belongs to Piwi-associated RNAs regulates expression of the human melatonin receptor 1A gene
    • Esposito T, Magliocca S, Formicola D, Gianfrancesco F: piR-015520 belongs to Piwi-associated RNAs regulates expression of the human melatonin receptor 1A gene. PLoS One 2011; 6:e22727.
    • (2011) PLoS One , vol.6 , pp. e22727
    • Esposito, T.1    Magliocca, S.2    Formicola, D.3    Gianfrancesco, F.4
  • 12
    • 84856628222 scopus 로고    scopus 로고
    • The melatonin receptor 1A (MTNR1A) gene is associated with recurrent and idiopathic calcium nephrolithiasis
    • Esposito T, Rendina D, Aloia A, et al: The melatonin receptor 1A (MTNR1A) gene is associated with recurrent and idiopathic calcium nephrolithiasis. Nephrol Dial Transplant 2012; 27: 210-218.
    • (2012) Nephrol Dial Transplant , vol.27 , pp. 210-218
    • Esposito, T.1    Rendina, D.2    Aloia, A.3
  • 13
    • 0036189998 scopus 로고    scopus 로고
    • A conditionally immortalized human podocyte cell line demonstrating nephrin and podocin expression
    • Saleem MA, O'Hare MJ, Reiser J, et al: A conditionally immortalized human podocyte cell line demonstrating nephrin and podocin expression. J Am Soc Nephrol 2002; 13: 630-638.
    • (2002) J Am Soc Nephrol , vol.13 , pp. 630-638
    • Saleem, M.A.1    O'Hare, M.J.2    Reiser, J.3
  • 14
    • 0036238921 scopus 로고    scopus 로고
    • N-linked glycosylation is critical for the plasma membrane localization of nephrin
    • Yan K, Khoshnoodi J, Ruotsalainen V, Tryggvason K: N-linked glycosylation is critical for the plasma membrane localization of nephrin. J Am Soc Nephrol 2002; 13: 1385-1389.
    • (2002) J Am Soc Nephrol , vol.13 , pp. 1385-1389
    • Yan, K.1    Khoshnoodi, J.2    Ruotsalainen, V.3    Tryggvason, K.4
  • 15
    • 84880586512 scopus 로고    scopus 로고
    • N-linked protein glycosylation in the ER
    • Aebi M: N-linked protein glycosylation in the ER. Biochim Biophys Acta 2013; 1833: 2430-2437.
    • (2013) Biochim Biophys Acta , vol.1833 , pp. 2430-2437
    • Aebi, M.1
  • 16
    • 84866425378 scopus 로고    scopus 로고
    • Gene identification in the congenital disorders of glycosylation type i by whole-exome sequencing
    • Timal S, Hoischen A, Lehle L, et al: Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing. Hum Mol Genet 2012; 21: 4151-4161.
    • (2012) Hum Mol Genet , vol.21 , pp. 4151-4161
    • Timal, S.1    Hoischen, A.2    Lehle, L.3
  • 17
    • 84884130368 scopus 로고    scopus 로고
    • De novo mutations in epileptic encephalopathies
    • EpiK Consortium; Epilepsy Phenome/ Genome Project, Allen AS, et a.l.
    • Epi4K Consortium; Epilepsy Phenome/ Genome Project, Allen AS, et al: De novo mutations in epileptic encephalopathies. Nature 2013; 501: 217-221.
    • (2013) Nature , vol.501 , pp. 217-221
  • 18
    • 84890686582 scopus 로고    scopus 로고
    • X chromosome exome sequencing reveals a novel ALG13 mutation in a nonsyndromic intellectual disability family with multiple affected male siblings
    • Bissar-Tadmouri N, Donahue WL, Al-Gazali L, et al: X chromosome exome sequencing reveals a novel ALG13 mutation in a nonsyndromic intellectual disability family with multiple affected male siblings. Am J Med Genet A 2014; 164A:164-169.
    • (2014) Am J Med Genet A , vol.164 , pp. 164-169
    • Bissar-Tadmouri, N.1    Donahue, W.L.2    Al-Gazali, L.3
  • 19
    • 0346850851 scopus 로고    scopus 로고
    • Nlinked protein glycosylation is a major determinant for basal TRPC3 and TRPC6 channel activity
    • Dietrich A, Mederos y Schnitzler M, et al: Nlinked protein glycosylation is a major determinant for basal TRPC3 and TRPC6 channel activity. J Biol Chem 2003; 278: 47842-47852.
    • (2003) J Biol Chem , vol.278 , pp. 47842-47852
    • Dietrich, A.1    Mederos Schnitzler, Y.M.2
  • 20
    • 84877037040 scopus 로고    scopus 로고
    • Characterization of a short isoform of the kidney protein podocin in human kidney
    • Völker LA, Schurek EM, Rinschen MM, et al: Characterization of a short isoform of the kidney protein podocin in human kidney. BMC Nephrol 2013; 14: 102.
    • (2013) BMC Nephrol , vol.14 , pp. 102
    • Völker, L.A.1    Schurek, E.M.2    Rinschen, M.M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.