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Items: 1 to 20 of 103


Mutations in or near the transmembrane domain alter PMEL amyloid formation from functional to pathogenic.

Watt B, Tenza D, Lemmon MA, Kerje S, Raposo G, Andersson L, Marks MS.

PLoS Genet. 2011 Sep;7(9):e1002286. doi: 10.1371/journal.pgen.1002286. Epub 2011 Sep 15.


Inactivation of Pmel alters melanosome shape but has only a subtle effect on visible pigmentation.

Hellström AR, Watt B, Fard SS, Tenza D, Mannström P, Narfström K, Ekesten B, Ito S, Wakamatsu K, Larsson J, Ulfendahl M, Kullander K, Raposo G, Kerje S, Hallböök F, Marks MS, Andersson L.

PLoS Genet. 2011 Sep;7(9):e1002285. doi: 10.1371/journal.pgen.1002285. Epub 2011 Sep 15.


BACE2 processes PMEL to form the melanosome amyloid matrix in pigment cells.

Rochin L, Hurbain I, Serneels L, Fort C, Watt B, Leblanc P, Marks MS, De Strooper B, Raposo G, van Niel G.

Proc Natl Acad Sci U S A. 2013 Jun 25;110(26):10658-63. doi: 10.1073/pnas.1220748110. Epub 2013 Jun 10.


PMEL: a pigment cell-specific model for functional amyloid formation.

Watt B, van Niel G, Raposo G, Marks MS.

Pigment Cell Melanoma Res. 2013 May;26(3):300-15. doi: 10.1111/pcmr.12067. Epub 2013 Feb 19. Review.


PMEL Amyloid Fibril Formation: The Bright Steps of Pigmentation.

Bissig C, Rochin L, van Niel G.

Int J Mol Sci. 2016 Aug 31;17(9). pii: E1438. doi: 10.3390/ijms17091438. Review.


The Kringle-like Domain Facilitates Post-endoplasmic Reticulum Changes to Premelanosome Protein (PMEL) Oligomerization and Disulfide Bond Configuration and Promotes Amyloid Formation.

Ho T, Watt B, Spruce LA, Seeholzer SH, Marks MS.

J Biol Chem. 2016 Feb 12;291(7):3595-612. doi: 10.1074/jbc.M115.692442. Epub 2015 Dec 22.


The PKD domain distinguishes the trafficking and amyloidogenic properties of the pigment cell protein PMEL and its homologue GPNMB.

Theos AC, Watt B, Harper DC, Janczura KJ, Theos SC, Herman KE, Marks MS.

Pigment Cell Melanoma Res. 2013 Jul;26(4):470-86. doi: 10.1111/pcmr.12084. Epub 2013 Apr 2.


Critical residues in the PMEL/Pmel17 N-terminus direct the hierarchical assembly of melanosomal fibrils.

Leonhardt RM, Vigneron N, Hee JS, Graham M, Cresswell P.

Mol Biol Cell. 2013 Apr;24(7):964-81. doi: 10.1091/mbc.E12-10-0742. Epub 2013 Feb 6.


N-terminal domains elicit formation of functional Pmel17 amyloid fibrils.

Watt B, van Niel G, Fowler DM, Hurbain I, Luk KC, Stayrook SE, Lemmon MA, Raposo G, Shorter J, Kelly JW, Marks MS.

J Biol Chem. 2009 Dec 18;284(51):35543-55. doi: 10.1074/jbc.M109.047449.


Electron tomography of early melanosomes: implications for melanogenesis and the generation of fibrillar amyloid sheets.

Hurbain I, Geerts WJ, Boudier T, Marco S, Verkleij AJ, Marks MS, Raposo G.

Proc Natl Acad Sci U S A. 2008 Dec 16;105(50):19726-31. doi: 10.1073/pnas.0803488105. Epub 2008 Nov 25.


A mutation within the transmembrane domain of melanosomal protein Silver (Pmel17) changes lumenal fragment interactions.

Kuliawat R, Santambrogio L.

Eur J Cell Biol. 2009 Nov;88(11):653-67. doi: 10.1016/j.ejcb.2009.07.001. Epub 2009 Aug 12.


The repeat domain of the melanosome fibril protein Pmel17 forms the amyloid core promoting melanin synthesis.

McGlinchey RP, Shewmaker F, McPhie P, Monterroso B, Thurber K, Wickner RB.

Proc Natl Acad Sci U S A. 2009 Aug 18;106(33):13731-6. doi: 10.1073/pnas.0906509106. Epub 2009 Jul 31.


The Silver locus product Pmel17/gp100/Silv/ME20: controversial in name and in function.

Theos AC, Truschel ST, Raposo G, Marks MS.

Pigment Cell Res. 2005 Oct;18(5):322-36. Review.


Interaction of MC1R and PMEL alleles on solid coat colors in Highland cattle.

Schmutz SM, Dreger DL.

Anim Genet. 2013 Feb;44(1):9-13. doi: 10.1111/j.1365-2052.2012.02361.x. Epub 2012 Apr 24.


The Dominant white, Dun and Smoky color variants in chicken are associated with insertion/deletion polymorphisms in the PMEL17 gene.

Kerje S, Sharma P, Gunnarsson U, Kim H, Bagchi S, Fredriksson R, Schütz K, Jensen P, von Heijne G, Okimoto R, Andersson L.

Genetics. 2004 Nov;168(3):1507-18.


Dual loss of ER export and endocytic signals with altered melanosome morphology in the silver mutation of Pmel17.

Theos AC, Berson JF, Theos SC, Herman KE, Harper DC, Tenza D, Sviderskaya EV, Lamoreux ML, Bennett DC, Raposo G, Marks MS.

Mol Biol Cell. 2006 Aug;17(8):3598-612. Epub 2006 Jun 7.


Lysophospholipid-containing membranes modulate the fibril formation of the repeat domain of a human functional amyloid, pmel17.

Jiang Z, Lee JC.

J Mol Biol. 2014 Dec 12;426(24):4074-86. doi: 10.1016/j.jmb.2014.10.009. Epub 2014 Oct 14.


Premelanosome amyloid-like fibrils are composed of only golgi-processed forms of Pmel17 that have been proteolytically processed in endosomes.

Harper DC, Theos AC, Herman KE, Tenza D, Raposo G, Marks MS.

J Biol Chem. 2008 Jan 25;283(4):2307-22. Epub 2007 Nov 8.


Apolipoprotein E Regulates Amyloid Formation within Endosomes of Pigment Cells.

van Niel G, Bergam P, Di Cicco A, Hurbain I, Lo Cicero A, Dingli F, Palmulli R, Fort C, Potier MC, Schurgers LJ, Loew D, Levy D, Raposo G.

Cell Rep. 2015 Oct 6;13(1):43-51. doi: 10.1016/j.celrep.2015.08.057. Epub 2015 Sep 17.

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