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Volumn 22, Issue 14, 2013, Pages 2914-2928

Impact of disease-causing mutations on TMEM165 subcellular localization, a recently identified protein involved in CDG-II

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM CHANNEL; CELL PROTEIN; PROTEIN GDT1; TMEM165 PROTEIN; UNCLASSIFIED DRUG;

EID: 84880271052     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddt146     Document Type: Article
Times cited : (40)

References (36)
  • 1
    • 78650401291 scopus 로고    scopus 로고
    • Congenital disorders of glycosylation
    • Jaeken, J. (2010) Congenital disorders of glycosylation. Ann. N. Y. Acad. Sci., 1214, 190-198.
    • (2010) Ann. N. Y. Acad. Sci. , vol.1214 , pp. 190-198
    • Jaeken, J.1
  • 6
    • 69249227502 scopus 로고    scopus 로고
    • Lysosome biogenesis and lysosomal membrane proteins: trafficking meets function
    • Saftig, P. and Klumperman, J. (2009) Lysosome biogenesis and lysosomal membrane proteins: trafficking meets function. Nat. Rev. Mol. Cell Biol., 10, 623-635.
    • (2009) Nat. Rev. Mol. Cell Biol. , vol.10 , pp. 623-635
    • Saftig, P.1    Klumperman, J.2
  • 7
    • 24344449035 scopus 로고    scopus 로고
    • Role of the endocytic machinery in the sorting of lysosome-associated membrane proteins
    • Janvier, K. and Bonifacino, J.S. (2005) Role of the endocytic machinery in the sorting of lysosome-associated membrane proteins. Mol. Biol. Cell, 16, 4231-4242.
    • (2005) Mol. Biol. Cell , vol.16 , pp. 4231-4242
    • Janvier, K.1    Bonifacino, J.S.2
  • 8
    • 0028232681 scopus 로고
    • Biogenesis of lysosomal membranes
    • Peters, C. and von Figura, K. (1994) Biogenesis of lysosomal membranes. FEBS Lett., 346, 108-114.
    • (1994) FEBS Lett. , vol.346 , pp. 108-114
    • Peters, C.1    von Figura, K.2
  • 9
    • 0028236274 scopus 로고
    • Targeting of membrane proteins to endosomes and lysosomes
    • Sandoval, I.V. and Bakke, O. (1994) Targeting of membrane proteins to endosomes and lysosomes. Trends Cell Biol., 4, 292-297.
    • (1994) Trends Cell Biol. , vol.4 , pp. 292-297
    • Sandoval, I.V.1    Bakke, O.2
  • 10
    • 0030137994 scopus 로고    scopus 로고
    • Intracellular trafficking of lysosomal membrane proteins
    • Hunziker, W. and Geuze, H.J. (1996) Intracellular trafficking of lysosomal membrane proteins. Bioessays, 18, 379-389.
    • (1996) Bioessays , vol.18 , pp. 379-389
    • Hunziker, W.1    Geuze, H.J.2
  • 11
    • 0032500053 scopus 로고    scopus 로고
    • Visualizing secretion and synaptic transmission with pH-sensitive green fluorescent proteins
    • Miesenböck, G., De Angelis, D.A. and Rothman, J.E. (1998) Visualizing secretion and synaptic transmission with pH-sensitive green fluorescent proteins. Nature, 394, 192-195.
    • (1998) Nature , vol.394 , pp. 192-195
    • Miesenböck, G.1    De Angelis, D.A.2    Rothman, J.E.3
  • 13
    • 0029826535 scopus 로고    scopus 로고
    • Structural determinants of interaction of tyrosine-based sorting signals with the adaptor medium chains
    • Ohno, H., Fournier, M.C., Poy, G. and Bonifacino, J.S. (1996) Structural determinants of interaction of tyrosine-based sorting signals with the adaptor medium chains. J. Biol. Chem., 271, 29009-29015.
    • (1996) J. Biol. Chem. , vol.271 , pp. 29009-29015
    • Ohno, H.1    Fournier, M.C.2    Poy, G.3    Bonifacino, J.S.4
  • 14
    • 0032476017 scopus 로고    scopus 로고
    • The medium subunits of adaptor complexes recognize distinct but overlapping sets of tyrosine-based sorting signals
    • Ohno H. Aguilar, R.C., Yeh, D., Taura, D., Saito, T. and Bonifacino, J.S. (1998) The medium subunits of adaptor complexes recognize distinct but overlapping sets of tyrosine-based sorting signals. J. Biol. Chem., 273, 25915-25921.
    • (1998) J. Biol. Chem. , vol.273 , pp. 25915-25921
    • Ohno, H.1    Aguilar, R.C.2    Yeh, D.3    Taura, D.4    Saito, T.5    Bonifacino, J.S.6
  • 15
    • 0039252786 scopus 로고    scopus 로고
    • The leucine-based sorting motifs in the cytoplasmic domain of the invariant chain are recognized by the clathrin adaptors AP1 and AP2 and their medium chains
    • Hofmann, M.W., Höning, S., Rodionov, D., Dobberstein, B., von Figura, K. and Bakke, O. (1999) The leucine-based sorting motifs in the cytoplasmic domain of the invariant chain are recognized by the clathrin adaptors AP1 and AP2 and their medium chains. J. Biol. Chem., 274, 36153-36158.
    • (1999) J. Biol. Chem. , vol.274 , pp. 36153-36158
    • Hofmann, M.W.1    Höning, S.2    Rodionov, D.3    Dobberstein, B.4    von Figura, K.5    Bakke, O.6
  • 16
    • 0030179367 scopus 로고    scopus 로고
    • Mechanisms of signal-mediated protein sorting in the endocytic and secretory pathways
    • Bonifacino, J.S., Marks, M.S., Ohno, H. and Kirchhausen, T. (1996) Mechanisms of signal-mediated protein sorting in the endocytic and secretory pathways. Proc. Assoc. Am. Physicians, 108, 285-295.
    • (1996) Proc. Assoc. Am. Physicians , vol.108 , pp. 285-295
    • Bonifacino, J.S.1    Marks, M.S.2    Ohno, H.3    Kirchhausen, T.4
  • 17
    • 0032488027 scopus 로고    scopus 로고
    • A dileucine motif in HIV-1 Nef acts as an internalization signal for CD4 downregulation and binds the AP-1 clathrin adaptor
    • Bresnahan, P.A., Yonemoto, W., Ferrell, S., Williams-Herman, D., Geleziunas, R. and Greene, W.C. (1998) A dileucine motif in HIV-1 Nef acts as an internalization signal for CD4 downregulation and binds the AP-1 clathrin adaptor. Curr. Biol., 8, 1235-1238.
    • (1998) Curr. Biol. , vol.8 , pp. 1235-1238
    • Bresnahan, P.A.1    Yonemoto, W.2    Ferrell, S.3    Williams-Herman, D.4    Geleziunas, R.5    Greene, W.C.6
  • 18
    • 0029935911 scopus 로고    scopus 로고
    • In vitro binding of clathrin adaptors to sorting signals correlates with endocytosis and basolateral sorting
    • Heilker, R., Manning-Krieg, U., Zuber, J.F. and Spiess, M. (1996) In vitro binding of clathrin adaptors to sorting signals correlates with endocytosis and basolateral sorting. EMBO J., 15, 2893-2899.
    • (1996) EMBO J. , vol.15 , pp. 2893-2899
    • Heilker, R.1    Manning-Krieg, U.2    Zuber, J.F.3    Spiess, M.4
  • 19
    • 0030611594 scopus 로고    scopus 로고
    • Regulation and function of the CD3gamma DxxxLL motif: a binding site for adaptor protein-1 and adaptor protein-2 in vitro
    • Dietrich, J., Kastrup, J., Nielsen, B.L., Odum, N. and Geisler, C. (1997) Regulation and function of the CD3gamma DxxxLL motif: a binding site for adaptor protein-1 and adaptor protein-2 in vitro. J. Cell Biol., 138, 271-281.
    • (1997) J. Cell Biol. , vol.138 , pp. 271-281
    • Dietrich, J.1    Kastrup, J.2    Nielsen, B.L.3    Odum, N.4    Geisler, C.5
  • 20
    • 0039109678 scopus 로고    scopus 로고
    • A di-leucine-based motif in the cytoplasmic tail of LIMP-II and tyrosinase mediates selective binding of AP-3
    • Höning, S., Sandoval, I.V. and von Figura, K. (1998) A di-leucine-based motif in the cytoplasmic tail of LIMP-II and tyrosinase mediates selective binding of AP-3. EMBO J., 10, 1304-1314.
    • (1998) EMBO J. , vol.10 , pp. 1304-1314
    • Höning, S.1    Sandoval, I.V.2    von Figura, K.3
  • 21
    • 0033524994 scopus 로고    scopus 로고
    • In vitro binding study of adaptor protein complex (AP-1) to lysosomal targeting motif (LI-motif)
    • Fujita, H., Saeki, M., Yasunaga, K., Ueda, T., Imoto, T. and Himeno, M. (1999) In vitro binding study of adaptor protein complex (AP-1) to lysosomal targeting motif (LI-motif). Biochem. Biophys. Res. Commun., 255, 54-58.
    • (1999) Biochem. Biophys. Res. Commun. , vol.255 , pp. 54-58
    • Fujita, H.1    Saeki, M.2    Yasunaga, K.3    Ueda, T.4    Imoto, T.5    Himeno, M.6
  • 22
    • 0035966098 scopus 로고    scopus 로고
    • The di-leucine motif of vesicle-associated membrane protein 4 is required for its localization and AP-1 binding
    • Peden, A.A., Park, G.Y. and Scheller, R.H. (2001) The di-leucine motif of vesicle-associated membrane protein 4 is required for its localization and AP-1 binding. J. Biol. Chem., 276, 49183-49187.
    • (2001) J. Biol. Chem. , vol.276 , pp. 49183-49187
    • Peden, A.A.1    Park, G.Y.2    Scheller, R.H.3
  • 23
    • 0037148787 scopus 로고    scopus 로고
    • Structural basis for acidic-cluster-dileucine sorting-signal recognition by VHS domains
    • Misra S. Puertollano, R., Kato, Y., Bonifacino, J.S. and Hurley, J.H. (2002) Structural basis for acidic-cluster-dileucine sorting-signal recognition by VHS domains. Nature, 415, 933-937.
    • (2002) Nature , vol.415 , pp. 933-937
    • Misra, S.1    Puertollano, R.2    Kato, Y.3    Bonifacino, J.S.4    Hurley, J.H.5
  • 25
    • 0033522506 scopus 로고    scopus 로고
    • Inhibition of the receptor-binding function of clathrin adaptor protein AP-2 by dominant-negative mutant mu2 subunit and its effects on endocytosis
    • Nesterov, A., Carter, R.E., Sorkina, T., Gill, G.N. and Sorkin, A. (1999) Inhibition of the receptor-binding function of clathrin adaptor protein AP-2 by dominant-negative mutant mu2 subunit and its effects on endocytosis. EMBO J., 18, 2489-2499.
    • (1999) EMBO J. , vol.18 , pp. 2489-2499
    • Nesterov, A.1    Carter, R.E.2    Sorkina, T.3    Gill, G.N.4    Sorkin, A.5
  • 26
    • 0028026793 scopus 로고
    • The role of clathrin, adaptors and dynamin in endocytosis
    • Robinson, M.S. (1994) The role of clathrin, adaptors and dynamin in endocytosis. Curr. Opin. Cell Biol., 6, 538-544.
    • (1994) Curr. Opin. Cell Biol. , vol.6 , pp. 538-544
    • Robinson, M.S.1
  • 29
    • 12844268551 scopus 로고    scopus 로고
    • The adaptor protein AP4 as a component of the clathrin coat machinery: a morphological study
    • Barois, N. and Bakke, O. (2005) The adaptor protein AP4 as a component of the clathrin coat machinery: a morphological study. Biochem. J., 385, 503-510.
    • (2005) Biochem. J. , vol.385 , pp. 503-510
    • Barois, N.1    Bakke, O.2
  • 30
    • 0029907407 scopus 로고    scopus 로고
    • Sequence requirements for the recognition of tyrosine-based endocytic signals by clathrin AP-2 complexes
    • Boll, W., Ohno, H., Songyang, Z., Rapoport, I., Cantley, L.C., Bonifacino, J.S. and Kirchhausen, T. (1996) Sequence requirements for the recognition of tyrosine-based endocytic signals by clathrin AP-2 complexes. EMBO J., 15, 5789-5795.
    • (1996) EMBO J. , vol.15 , pp. 5789-5795
    • Boll, W.1    Ohno, H.2    Songyang, Z.3    Rapoport, I.4    Cantley, L.C.5    Bonifacino, J.S.6    Kirchhausen, T.7
  • 32
    • 0038795645 scopus 로고    scopus 로고
    • Signals for sorting of transmembrane proteins to endosomes and lysosomes
    • Bonifacino J.S. and Traub, L.M. (2003) Signals for sorting of transmembrane proteins to endosomes and lysosomes. Annu. Rev. Biochem., 72, 395-447.
    • (2003) Annu. Rev. Biochem. , vol.72 , pp. 395-447
    • Bonifacino, J.S.1    Traub, L.M.2
  • 33
    • 37549056201 scopus 로고    scopus 로고
    • Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2
    • ARCL Debré-type Study Group.
    • Kornak, U., Reynders, E., Dimopoulou, A., van Reeuwijk, J., Fischer, B., Rajab, A., Budde, B., Nürnberg, P., Foulquier, F., et al. ARCL Debré-type Study Group. (2008) Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. Nat. Genet., 40, 32-34.
    • (2008) Nat. Genet. , vol.40 , pp. 32-34
    • Kornak, U.1    Reynders, E.2    Dimopoulou, A.3    van Reeuwijk, J.4    Fischer, B.5    Rajab, A.6    Budde, B.7    Nürnberg, P.8    Foulquier, F.9
  • 34
    • 0036472494 scopus 로고    scopus 로고
    • pH-Dependent regulation of lysosomal calcium in macrophages
    • Christensen, K.A., Myers, J.T. and Swanson, J.A. (2002) pH-Dependent regulation of lysosomal calcium in macrophages. J. Cell Sci., 115, 599-607.
    • (2002) J. Cell Sci. , vol.115 , pp. 599-607
    • Christensen, K.A.1    Myers, J.T.2    Swanson, J.A.3
  • 35
    • 80051470524 scopus 로고    scopus 로고
    • Lysosomal Ca(2+) homeostasis: role in pathogenesis of lysosomal storage diseases
    • Lloyd-Evans, E. and Platt, F.M. (2011) Lysosomal Ca(2+) homeostasis: role in pathogenesis of lysosomal storage diseases. Cell Calcium, 50, 200-205.
    • (2011) Cell Calcium , vol.50 , pp. 200-205
    • Lloyd-Evans, E.1    Platt, F.M.2
  • 36
    • 0021355340 scopus 로고
    • A method for the quantitative recovery of protein in dilute solution in the presence of detergents and lipids
    • Wessel, D. and Flügge, U.I. (1984) A method for the quantitative recovery of protein in dilute solution in the presence of detergents and lipids. Anal. Biochem., 138, 141-143.
    • (1984) Anal. Biochem. , vol.138 , pp. 141-143
    • Wessel, D.1    Flügge, U.I.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.