« Previous
Next »
Journal of Hepatology
Volume 52, Issue 3
, Pages 432-440
, March 2010
Congenital disorders of glycosylation in hepatology: The example of polycystic liver disease
References
- . Alteration of protein glycosylation in liver diseases. J Hepatol. 2009;50:592–603
- . Polycystic disease of the liver. Hepatology. 2004;40:774–782
- . Polycystic liver disease: new insights into disease pathogenesis. Hepatology. 2006;43:906–908
- . Cystic dilatation of peribiliary glands in livers with adult polycystic disease and livers with solitary nonparasitic cysts: an autopsy study. Hepatology. 1992;16:334–340
- Clinical profile of autosomal dominant polycystic liver disease. Hepatology. 2003;37:164–171
- . The cholangiopathies: disorders of biliary epithelia. Gastroenterology. 2004;127:1565–1577
- . Polycystic liver disease is a disorder of cotranslational protein processing. Trends Mol Med. 2005;11:37–42
- Polycystic liver: clinical characteristics of patients with isolated polycystic liver disease compared with patients with polycystic liver and autosomal dominant polycystic kidney disease. Liver Int. 2008;28:264–270
- . Aspiration-sclerotherapy results in effective control of liver volume in patients with liver cysts. Dig Dis Sci. 2008;53:2251–2257
- . Laparoscopic fenestration of liver cysts in polycystic liver disease results in a median volume reduction of 12.5%. J Gastrointest Surg. 2008;12:477–482
- . Treatment of polycystic livers. Br J Surg. 2009;96:1379–1380
- Liver transplantation in isolated polycystic liver disease. Transpl Int. 2009;22:3
- Lanreotide reduces the volume of polycystic liver: a randomized, double-blind, placebo-controlled trial. Gastroenterology. 2009;137:1661–1668
- . Germline mutations in PRKCSH are associated with autosomal dominant polycystic liver disease. Nat Genet. 2003;33:345–347
- Mutations in PRKCSH cause isolated autosomal dominant polycystic liver disease. Am J Hum Genet. 2003;72:691–703
- Mutations in SEC63 cause autosomal dominant polycystic liver disease. Nat Genet. 2004;36:575–577
- . BiP and Sec63p are required for both co- and posttranslational protein translocation into the yeast endoplasmic reticulum. Proc Natl Acad Sci USA. 1995;92:9643–9646
- . Protein translocation across the eukaryotic endoplasmic reticulum and bacterial plasma membranes. Nature. 2007;450:663–669
- . Sec63p and Kar2p are required for the translocation of SRP-dependent precursors into the yeast endoplasmic reticulum in vivo. EMBO J. 2001;20:262–271
- . Protein kinase CK2 phosphorylates Sec63p to stimulate the assembly of the endoplasmic reticulum protein translocation apparatus. J Cell Sci. 2005;118:723–732
- . The Brl domain in Sec63p is required for assembly of functional endoplasmic reticulum translocons. J Biol Chem. 2006;281:7899–7906
- . Identification of novel protein–protein interactions at the cytosolic surface of the Sec63 complex in the yeast ER membrane. Yeast. 2003;20:133–148
- . Binding of secretory precursor polypeptides to a translocon subcomplex is regulated by BiP. Cell. 1997;88:85–96
- . BiP acts as a molecular ratchet during posttranslational transport of prepro-alpha factor across the ER membrane. Cell. 1999;97:553–564
- . A Sec63p-BiP complex from yeast is required for protein translocation in a reconstituted proteoliposome. J Cell Biol. 1993;123:1355–1363
- . The lumenal domain of Sec63p stimulates the ATPase activity of BiP and mediates BiP recruitment to the translocon in Saccharomyces cerevisiae. J Cell Biol. 1997;137:1483–1493
- . An in vitro assay using overexpressed yeast SRP demonstrates that cotranslational translocation is dependent upon the J-domain of Sec63p. Biochemistry. 2003;42:7171–7177
- . Assembly of ER-associated protein degradation in vitro: dependence on cytosol, calnexin, and ATP. J Cell Biol. 1996;132:291–298
- . Characterization of the proteasome interaction with the Sec61 channel in the endoplasmic reticulum. J Cell Sci. 2007;120:682–691
- . Mutant analysis links the translocon and BiP to retrograde protein transport for ER degradation. Nature. 1997;388:891–895
- . The ER chaperone BiP is a master regulator of ER function. Mt Sinai J Med. 2004;71:289–297
- . The protein translocation channel mediates glycopeptide export across the endoplasmic reticulum membrane. Proc Natl Acad Sci USA. 2000;97:4609–4614
- . The molecular mechanisms underlying BiP-mediated gating of the Sec61 translocon of the endoplasmic reticulum. J Cell Biol. 2005;168:389–399
- . BiP maintains the permeability barrier of the ER membrane by sealing the lumenal end of the translocon pore before and early in translocation. Cell. 1998;92:747–758
- Mammalian Sec61 is associated with Sec62 and Sec63. J Biol Chem. 2000;275:14550–14557
- Homologs of the yeast Sec complex subunits Sec62p and Sec63p are abundant proteins in dog pancreas microsomes. Proc Natl Acad Sci USA. 2000;97:7214–7219
- . 80K-H interacts with inositol 1,4,5-trisphosphate (IP3) receptors and regulates IP3-induced calcium release activity. J Biol Chem. 2009;284:372–380
- Molecular identity and cellular distribution of advanced glycation endproduct receptors: relationship of p60 to OST-48 and p90 to 80K-H membrane proteins. Proc Natl Acad Sci USA. 1996;93:11047–11052
- . 80K-H as a new Ca2+ sensor regulating the activity of the epithelial Ca2+ channel transient receptor potential cation channel V5 (TRPV5). J Biol Chem. 2004;279:26351–26357
- . Immunolocalization of vacuolar system-associated protein-60 (VASAP-60). Histochem Cell Biol. 2003;119:371–381
- . Identification of 80K-H as a protein involved in GLUT4 vesicle trafficking. Biochem J. 2005;388:785–793
- . Signal transduction pathway of human fibroblast growth factor receptor 3. Identification of a novel 66-kDa phosphoprotein. J Biol Chem. 1997;272:6621–6628
- . Elevated 80K-H protein in breast cancer: a role for FGF-1 stimulation of 80K-H. Int J Biol Markers. 2003;18:89–98
- Cysts of PRKCSH mutated polycystic liver disease patients lack hepatocystin but express Sec63p. Histochem Cell Biol. 2008;129:301–310
- . Endoplasmic reticulum glucosidase II is composed of a catalytic subunit, conserved from yeast to mammals, and a tightly bound noncatalytic HDEL-containing subunit. J Biol Chem. 1996;271:27509–27516
- . Quaternary and domain structure of glycoprotein processing glucosidase II. Biochemistry. 2001;40:10717–10722
- . Protein quality control in the early secretory pathway. EMBO J. 2008;27:315–327
- . More than one glycan is needed for ER glucosidase II to allow entry of glycoproteins into the calnexin/calreticulin cycle. Mol Cell. 2005;19:183–195
- . N-Glycan processing in ER quality control. J Cell Sci. 2006;119:4373–4380
- . Genetic evidence for the heterodimeric structure of glucosidase II. The effect of disrupting the subunit-encoding genes on glycoprotein folding. J Biol Chem. 1999;274:25899–25905
- . Yeast GTB1 encodes a subunit of glucosidase II required for glycoprotein processing in the endoplasmic reticulum. J Biol Chem. 2006;281:6325–6333
- The heterodimeric structure of glucosidase II is required for its activity, solubility, and localization in vivo. Glycobiology. 2000;10:815–827
- . The alpha- and beta-subunits are required for expression of catalytic activity in the hetero-dimeric glucosidase II complex from human liver. Glycobiology. 2000;10:493–502
- Hepatocystin is not secreted in cyst fluid of hepatocystin mutant polycystic liver patients. J Proteome Res. 2008;7:2490–2495
- . Glucosidase II beta subunit modulates N-glycan trimming in fission yeasts and mammals. Mol Biol Cell. 2009;20:3974–3984
- . Disrupted cell adhesion but not proliferation mediates cyst formation in polycystic liver disease. Mod Pathol. 2008;21:1293–1302
- . Glycosylation inhibitors in biology and medicine. Curr Opin Struct Biol. 1995;5:605–611
- . Alternative splicing of transcripts encoding the alpha- and beta-subunits of mouse glucosidase II in T lymphocytes. Glycobiology. 1999;9:277–283
- . Alpha-glucosidase inhibitors as potential broad based anti-viral agents. FEBS Lett. 1998;430:17–22
- D-1 and D-2 dopamine receptor expression is regulated by direct interaction with the chaperone protein calnexin. J Biol Chem. 2007;282:21285–21300
- . Specific isoforms of the resident endoplasmic reticulum protein glucosidase II associate with the CD45 protein–tyrosine phosphatase via a lectin-like interaction. J Biol Chem. 2000;275:32071–32076
- . Oligosaccharyltransferase directly binds to ribosome at a location near the translocon-binding site. Proc Natl Acad Sci USA. 2009;106:6945–6949
- . Congenital disorder of glycosylation id presenting with hyperinsulinemic hypoglycemia and islet cell hyperplasia. J Clin Endocrinol Metab. 2005;90:4371–4375
- . CDG-Id in two siblings with partially different phenotypes. Am J Med Genet A. 2007;143A:1414–1420
- . An activated 5′ cryptic splice site in the human ALG3 gene generates a premature termination codon insensitive to nonsense-mediated mRNA decay in a new case of congenital disorder of glycosylation type Id (CDG-Id). Hum Mutat. 2004;23:477–486
- CDG-IL: an infant with a novel mutation in the ALG9 gene and additional phenotypic features. Am J Med Genet A. 2005;136:194–197
- . Identification and functional analysis of a defect in the human ALG9 gene: definition of congenital disorder of glycosylation type IL. Am J Hum Genet. 2004;75:146–150
- Quality control of glycoproteins bearing truncated glycans in an ALG9-defective (CDG-IL) patient. Glycobiology. 2009;19:910–917
- Molecular and clinical description of the first US patients with congenital disorder of glycosylation Ig. Mol Genet Metab. 2005;84:25–31
- . ALG12 mannosyltransferase defect in congenital disorder of glycosylation type lg. Hum Mol Genet. 2002;11:2331–2339
- Expanding spectrum of congenital disorder of glycosylation Ig (CDG-Ig): sibs with a unique skeletal dysplasia, hypogammaglobulinemia, cardiomyopathy, genital malformations, and early lethality. Am J Med Genet A. 2007;143A:1371–1378
- . Gastrointestinal and other clinical manifestations in 17 children with congenital disorders of glycosylation type Ia, Ib, and Ic. J Pediatr Gastroenterol Nutr. 2004;38:282–287
- . Congenital disorder of glycosylation Ic due to a de novo deletion and an hALG-6 mutation. Biochem Biophys Res Commun. 2006;339:755–760
- . Abnormal lysosomal inclusions in liver hepatocytes but not in fibroblasts in congenital disorders of glycosylation (CDG). J Inherit Metab Dis. 2003;26:49–54
- A deficiency in dolichyl-P-glucose:Glc1Man9GlcNAc2-PP-dolichyl alpha3-glucosyltransferase defines a new subtype of congenital disorders of glycosylation. J Biol Chem. 2003;278:9962–9971
- . Congenital disorder of glycosylation (CDG)-Ih patient with a severe hepato-intestinal phenotype and evolving central nervous system pathology. J Pediatr. 2005;147:847–850
- Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency). J Med Genet. 2004;41:550–556
- A novel disorder caused by defective biosynthesis of N-linked oligosaccharides due to glucosidase I deficiency. Am J Hum Genet. 2000;66:1744–1756
- EXT-mutation analysis and loss of heterozygosity in sporadic and hereditary osteochondromas and secondary chondrosarcomas. Am J Hum Genet. 1999;65:689–698
- Somatic PKD2 mutations in individual kidney and liver cysts support a “two-hit” model of cystogenesis in type 2 autosomal dominant polycystic kidney disease. J Am Soc Nephrol. 1999;10:1524–1529
- . Extensive mutational analysis of PRKCSH and SEC63 broadens the spectrum of polycystic liver disease. Hum Mutat. 2006;27:830
- Human RFT1 deficiency leads to a disorder of N-linked glycosylation. Am J Hum Genet. 2008;82:600–606
- . The liver in congenital disorders of glycosylation: ultrastructural features. Ultrastruct Pathol. 2007;31:189–197
PII: S0168-8278(09)00812-5
doi: 10.1016/j.jhep.2009.12.011
« Previous
Next »
Journal of Hepatology
Volume 52, Issue 3
, Pages 432-440
, March 2010
