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XLalphas, the extra-long form of the alpha-subunit of the Gs G protein, is significantly longer than suspected, and so is its companion Alex.

Abramowitz J, Grenet D, Birnbaumer M, Torres HN, Birnbaumer L.

Proc Natl Acad Sci U S A. 2004 Jun 1;101(22):8366-71. Epub 2004 May 17.


Functional polymorphisms in the paternally expressed XLalphas and its cofactor ALEX decrease their mutual interaction and enhance receptor-mediated cAMP formation.

Freson K, Jaeken J, Van Helvoirt M, de Zegher F, Wittevrongel C, Thys C, Hoylaerts MF, Vermylen J, Van Geet C.

Hum Mol Genet. 2003 May 15;12(10):1121-30.


Coding GNAS mutations leading to hormone resistance impair in vitro agonist- and cholera toxin-induced adenosine cyclic 3',5'-monophosphate formation mediated by human XLalphas.

Linglart A, Mahon MJ, Kerachian MA, Berlach DM, Hendy GN, Jüppner H, Bastepe M.

Endocrinology. 2006 May;147(5):2253-62. Epub 2006 Feb 16.


Oscillating evolution of a mammalian locus with overlapping reading frames: an XLalphas/ALEX relay.

Nekrutenko A, Wadhawan S, Goetting-Minesky P, Makova KD.

PLoS Genet. 2005 Aug;1(2):e18. Epub 2005 Aug 12.


Extralarge XL(alpha)s (XXL(alpha)s), a variant of stimulatory G protein alpha-subunit (Gs(alpha)), is a distinct, membrane-anchored GNAS product that can mimic Gs(alpha).

Aydin C, Aytan N, Mahon MJ, Tawfeek HA, Kowall NW, Dedeoglu A, Bastepe M.

Endocrinology. 2009 Aug;150(8):3567-75. doi: 10.1210/en.2009-0318. Epub 2009 May 7.


Bidirectional imprinting of a single gene: GNAS1 encodes maternally, paternally, and biallelically derived proteins.

Hayward BE, Moran V, Strain L, Bonthron DT.

Proc Natl Acad Sci U S A. 1998 Dec 22;95(26):15475-80.


Characterization of the extra-large G protein alpha-subunit XLalphas. II. Signal transduction properties.

Klemke M, Pasolli HA, Kehlenbach RH, Offermanns S, Schultz G, Huttner WB.

J Biol Chem. 2000 Oct 27;275(43):33633-40.


Transgenic overexpression of the extra-large Gsα variant XLαs enhances Gsα-mediated responses in the mouse renal proximal tubule in vivo.

Liu Z, Segawa H, Aydin C, Reyes M, Erben RG, Weinstein LS, Chen M, Marshansky V, Fröhlich LF, Bastepe M.

Endocrinology. 2011 Apr;152(4):1222-33. doi: 10.1210/en.2010-1034. Epub 2011 Feb 8.


Receptor-mediated adenylyl cyclase activation through XLalpha(s), the extra-large variant of the stimulatory G protein alpha-subunit.

Bastepe M, Gunes Y, Perez-Villamil B, Hunzelman J, Weinstein LS, Jüppner H.

Mol Endocrinol. 2002 Aug;16(8):1912-9.


New mutations at the imprinted Gnas cluster show gene dosage effects of Gsα in postnatal growth and implicate XLαs in bone and fat metabolism but not in suckling.

Eaton SA, Williamson CM, Ball ST, Beechey CV, Moir L, Edwards J, Teboul L, Maconochie M, Peters J.

Mol Cell Biol. 2012 Mar;32(5):1017-29. doi: 10.1128/MCB.06174-11. Epub 2012 Jan 3.


Pseudohypoparathyroidism type Ib with disturbed imprinting in the GNAS1 cluster and Gsalpha deficiency in platelets.

Freson K, Thys C, Wittevrongel C, Proesmans W, Hoylaerts MF, Vermylen J, Van Geet C.

Hum Mol Genet. 2002 Oct 15;11(22):2741-50.


A missense mutation in the non-neural G-protein alpha-subunit isoforms modulates susceptibility to obesity.

Kelly ML, Moir L, Jones L, Whitehill E, Anstee QM, Goldin RD, Hough A, Cheeseman M, Jansson JO, Peters J, Cox RD.

Int J Obes (Lond). 2009 May;33(5):507-18. doi: 10.1038/ijo.2009.30. Epub 2009 Feb 24.


Genetic variation of the extra-large stimulatory G protein alpha-subunit leads to Gs hyperfunction in platelets and is a risk factor for bleeding.

Freson K, Hoylaerts MF, Jaeken J, Eyssen M, Arnout J, Vermylen J, Van Geet C.

Thromb Haemost. 2001 Sep;86(3):733-8.


The same mutation in Gsalpha and transducin alpha reveals behavioral differences between these highly homologous G protein alpha-subunits.

Zurita AR, Birnbaumer L.

Proc Natl Acad Sci U S A. 2008 Feb 19;105(7):2363-8. doi: 10.1073/pnas.0712261105. Epub 2008 Feb 7.


Imprinting the Gnas locus.

Plagge A, Kelsey G.

Cytogenet Genome Res. 2006;113(1-4):178-87.


Extra-long Gαs variant XLαs protein escapes activation-induced subcellular redistribution and is able to provide sustained signaling.

Liu Z, Turan S, Wehbi VL, Vilardaga JP, Bastepe M.

J Biol Chem. 2011 Nov 4;286(44):38558-69. doi: 10.1074/jbc.M111.240150. Epub 2011 Sep 2.


The human GNAS1 gene is imprinted and encodes distinct paternally and biallelically expressed G proteins.

Hayward BE, Kamiya M, Strain L, Moran V, Campbell R, Hayashizaki Y, Bonthron DT.

Proc Natl Acad Sci U S A. 1998 Aug 18;95(17):10038-43.


Gene fusion and overlapping reading frames in the mammalian genes for 4E-BP3 and MASK.

Poulin F, Brueschke A, Sonenberg N.

J Biol Chem. 2003 Dec 26;278(52):52290-7. Epub 2003 Oct 13.

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