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Items: 37

1.

Uniparental disomy unveils a novel recessive mutation in POMT2.

Brun BN, Willer T, Darbro BW, Gonorazky HD, Naumenko S, Dowling JJ, Campbell KP, Moore SA, Mathews KD.

Neuromuscul Disord. 2018 Apr 10. pii: S0960-8966(18)30050-6. doi: 10.1016/j.nmd.2018.04.003. [Epub ahead of print]

PMID:
29759639
2.

Influence of the Gut Microbiota Composition on Campylobacter jejuni Colonization in Chickens.

Han Z, Willer T, Li L, Pielsticker C, Rychlik I, Velge P, Kaspers B, Rautenschlein S.

Infect Immun. 2017 Oct 18;85(11). pii: e00380-17. doi: 10.1128/IAI.00380-17. Print 2017 Nov.

3.

Establishment of an In Vitro Intestinal Epithelial Cell Culture Model of Avian Origin.

Kaiser A, Willer T, Steinberg P, Rautenschlein S.

Avian Dis. 2017 Jun;61(2):229-236. doi: 10.1637/11524-110216-Reg.1.

PMID:
28665724
4.

Activin A more prominently regulates muscle mass in primates than does GDF8.

Latres E, Mastaitis J, Fury W, Miloscio L, Trejos J, Pangilinan J, Okamoto H, Cavino K, Na E, Papatheodorou A, Willer T, Bai Y, Hae Kim J, Rafique A, Jaspers S, Stitt T, Murphy AJ, Yancopoulos GD, Gromada J.

Nat Commun. 2017 Apr 28;8:15153. doi: 10.1038/ncomms15153.

5.

Differences in host breed and diet influence colonization by Campylobacter jejuni and induction of local immune responses in chicken.

Han Z, Willer T, Pielsticker C, Gerzova L, Rychlik I, Rautenschlein S.

Gut Pathog. 2016 Nov 10;8:56. eCollection 2016.

6.

Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly.

Jerber J, Zaki MS, Al-Aama JY, Rosti RO, Ben-Omran T, Dikoglu E, Silhavy JL, Caglar C, Musaev D, Albrecht B, Campbell KP, Willer T, Almuriekhi M, Çağlayan AO, Vajsar J, Bilgüvar K, Ogur G, Abou Jamra R, Günel M, Gleeson JG.

Am J Hum Genet. 2016 Nov 3;99(5):1181-1189. doi: 10.1016/j.ajhg.2016.09.007. Epub 2016 Oct 20.

7.

Role of dystroglycan in limiting contraction-induced injury to the sarcomeric cytoskeleton of mature skeletal muscle.

Rader EP, Turk R, Willer T, Beltrán D, Inamori K, Peterson TA, Engle J, Prouty S, Matsumura K, Saito F, Anderson ME, Campbell KP.

Proc Natl Acad Sci U S A. 2016 Sep 27;113(39):10992-7. doi: 10.1073/pnas.1605265113. Epub 2016 Sep 13.

8.

Susceptibility of primary chicken intestinal epithelial cells for low pathogenic avian influenza virus and velogenic viscerotropic Newcastle disease virus.

Kaiser A, Willer T, Sid H, Petersen H, Baumgärtner W, Steinberg P, Rautenschlein S.

Virus Res. 2016 Oct 2;225:50-63. doi: 10.1016/j.virusres.2016.09.001. Epub 2016 Sep 3.

PMID:
27596739
9.

The functional O-mannose glycan on α-dystroglycan contains a phospho-ribitol primed for matriglycan addition.

Praissman JL, Willer T, Sheikh MO, Toi A, Chitayat D, Lin YY, Lee H, Stalnaker SH, Wang S, Prabhakar PK, Nelson SF, Stemple DL, Moore SA, Moremen KW, Campbell KP, Wells L.

Elife. 2016 Apr 29;5. pii: e14473. doi: 10.7554/eLife.14473.

10.

GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation.

Jensen BS, Willer T, Saade DN, Cox MO, Mozaffar T, Scavina M, Stefans VA, Winder TL, Campbell KP, Moore SA, Mathews KD.

Hum Mutat. 2015 Dec;36(12):1159-63. doi: 10.1002/humu.22898. Epub 2015 Sep 23.

11.

The glucuronyltransferase B4GAT1 is required for initiation of LARGE-mediated α-dystroglycan functional glycosylation.

Willer T, Inamori K, Venzke D, Harvey C, Morgensen G, Hara Y, Beltrán Valero de Bernabé D, Yu L, Wright KM, Campbell KP.

Elife. 2014 Oct 3;3. doi: 10.7554/eLife.03941.

12.

Endogenous glucuronyltransferase activity of LARGE or LARGE2 required for functional modification of α-dystroglycan in cells and tissues.

Inamori K, Willer T, Hara Y, Venzke D, Anderson ME, Clarke NF, Guicheney P, Bönnemann CG, Moore SA, Campbell KP.

J Biol Chem. 2014 Oct 10;289(41):28138-48. doi: 10.1074/jbc.M114.597831. Epub 2014 Aug 19.

13.

A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations.

Wallace SE, Conta JH, Winder TL, Willer T, Eskuri JM, Haas R, Patterson K, Campbell KP, Moore SA, Gospe SM Jr.

Neuromuscul Disord. 2014 Apr;24(4):312-20. doi: 10.1016/j.nmd.2014.01.001. Epub 2014 Jan 11.

14.

Protein O-mannosylation is crucial for E-cadherin-mediated cell adhesion.

Lommel M, Winterhalter PR, Willer T, Dahlhoff M, Schneider MR, Bartels MF, Renner-Müller I, Ruppert T, Wolf E, Strahl S.

Proc Natl Acad Sci U S A. 2013 Dec 24;110(52):21024-9. doi: 10.1073/pnas.1316753110. Epub 2013 Dec 2.

15.

SGK196 is a glycosylation-specific O-mannose kinase required for dystroglycan function.

Yoshida-Moriguchi T, Willer T, Anderson ME, Venzke D, Whyte T, Muntoni F, Lee H, Nelson SF, Yu L, Campbell KP.

Science. 2013 Aug 23;341(6148):896-9. doi: 10.1126/science.1239951. Epub 2013 Aug 8.

16.

Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy.

Yang AC, Ng BG, Moore SA, Rush J, Waechter CJ, Raymond KM, Willer T, Campbell KP, Freeze HH, Mehta L.

Mol Genet Metab. 2013 Nov;110(3):345-351. doi: 10.1016/j.ymgme.2013.06.016. Epub 2013 Jun 28.

17.

Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.

Carss KJ, Stevens E, Foley AR, Cirak S, Riemersma M, Torelli S, Hoischen A, Willer T, van Scherpenzeel M, Moore SA, Messina S, Bertini E, Bönnemann CG, Abdenur JE, Grosmann CM, Kesari A, Punetha J, Quinlivan R, Waddell LB, Young HK, Wraige E, Yau S, Brodd L, Feng L, Sewry C, MacArthur DG, North KN, Hoffman E, Stemple DL, Hurles ME, van Bokhoven H, Campbell KP, Lefeber DJ; UK10K Consortium, Lin YY, Muntoni F.

Am J Hum Genet. 2013 Jul 11;93(1):29-41. doi: 10.1016/j.ajhg.2013.05.009. Epub 2013 Jun 13.

18.

Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan.

Stevens E, Carss KJ, Cirak S, Foley AR, Torelli S, Willer T, Tambunan DE, Yau S, Brodd L, Sewry CA, Feng L, Haliloglu G, Orhan D, Dobyns WB, Enns GM, Manning M, Krause A, Salih MA, Walsh CA, Hurles M, Campbell KP, Manzini MC; UK10K Consortium, Stemple D, Lin YY, Muntoni F.

Am J Hum Genet. 2013 Mar 7;92(3):354-65. doi: 10.1016/j.ajhg.2013.01.016. Epub 2013 Feb 28.

19.

ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies.

Cirak S, Foley AR, Herrmann R, Willer T, Yau S, Stevens E, Torelli S, Brodd L, Kamynina A, Vondracek P, Roper H, Longman C, Korinthenberg R, Marrosu G, Nürnberg P; UK10K Consortium, Michele DE, Plagnol V, Hurles M, Moore SA, Sewry CA, Campbell KP, Voit T, Muntoni F.

Brain. 2013 Jan;136(Pt 1):269-81. doi: 10.1093/brain/aws312. Epub 2013 Jan 3.

20.

Xylosyl- and glucuronyltransferase functions of LARGE in α-dystroglycan modification are conserved in LARGE2.

Inamori K, Hara Y, Willer T, Anderson ME, Zhu Z, Yoshida-Moriguchi T, Campbell KP.

Glycobiology. 2013 Mar;23(3):295-302. doi: 10.1093/glycob/cws152. Epub 2012 Nov 2.

21.

ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome.

Willer T, Lee H, Lommel M, Yoshida-Moriguchi T, de Bernabe DB, Venzke D, Cirak S, Schachter H, Vajsar J, Voit T, Muntoni F, Loder AS, Dobyns WB, Winder TL, Strahl S, Mathews KD, Nelson SF, Moore SA, Campbell KP.

Nat Genet. 2012 May;44(5):575-80. doi: 10.1038/ng.2252.

22.

A dystroglycan mutation associated with limb-girdle muscular dystrophy.

Hara Y, Balci-Hayta B, Yoshida-Moriguchi T, Kanagawa M, Beltrán-Valero de Bernabé D, Gündeşli H, Willer T, Satz JS, Crawford RW, Burden SJ, Kunz S, Oldstone MB, Accardi A, Talim B, Muntoni F, Topaloğlu H, Dinçer P, Campbell KP.

N Engl J Med. 2011 Mar 10;364(10):939-46. doi: 10.1056/NEJMoa1006939.

23.

Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene.

Clarke NF, Maugenre S, Vandebrouck A, Urtizberea JA, Willer T, Peat RA, Gray F, Bouchet C, Manya H, Vuillaumier-Barrot S, Endo T, Chouery E, Campbell KP, Mégarbané A, Guicheney P.

Eur J Hum Genet. 2011 Apr;19(4):452-7. doi: 10.1038/ejhg.2010.212. Epub 2011 Jan 19.

24.

POMT1 is essential for protein O-mannosylation in mammals.

Lommel M, Willer T, Cruces J, Strahl S.

Methods Enzymol. 2010;479:323-42. doi: 10.1016/S0076-6879(10)79018-2.

PMID:
20816174
25.

Correlation of enzyme activity and clinical phenotype in POMT1-associated dystroglycanopathies.

Lommel M, Cirak S, Willer T, Hermann R, Uyanik G, van Bokhoven H, Körner C, Voit T, Barić I, Hehr U, Strahl S.

Neurology. 2010 Jan 12;74(2):157-64. doi: 10.1212/WNL.0b013e3181c919d6.

PMID:
20065251
26.

POMT1-associated walker-warburg syndrome: a disorder of dendritic development of neocortical neurons.

Judas M, Sedmak G, Rados M, Sarnavka V, Fumić K, Willer T, Gross C, Hehr U, Strahl S, Cuk M, Barić I.

Neuropediatrics. 2009 Feb;40(1):6-14. doi: 10.1055/s-0029-1224099. Epub 2009 Jul 28.

PMID:
19639522
27.

Further evidence of Fukutin mutations as a cause of childhood onset limb-girdle muscular dystrophy without mental retardation.

Puckett RL, Moore SA, Winder TL, Willer T, Romansky SG, Covault KK, Campbell KP, Abdenur JE.

Neuromuscul Disord. 2009 May;19(5):352-6. doi: 10.1016/j.nmd.2009.03.001. Epub 2009 Apr 1.

28.

Loss of alpha-dystroglycan laminin binding in epithelium-derived cancers is caused by silencing of LARGE.

de Bernabé DB, Inamori K, Yoshida-Moriguchi T, Weydert CJ, Harper HA, Willer T, Henry MD, Campbell KP.

J Biol Chem. 2009 Apr 24;284(17):11279-84. doi: 10.1074/jbc.C900007200. Epub 2009 Feb 24.

29.

Brain and eye malformations resembling Walker-Warburg syndrome are recapitulated in mice by dystroglycan deletion in the epiblast.

Satz JS, Barresi R, Durbeej M, Willer T, Turner A, Moore SA, Campbell KP.

J Neurosci. 2008 Oct 15;28(42):10567-75. doi: 10.1523/JNEUROSCI.2457-08.2008.

30.

POMT2, a key enzyme in Walker-Warburg syndrome: somatic sPOMT2, but not testis-specific tPOMT2, is crucial for mannosyltransferase activity in vivo.

Lommel M, Willer T, Strahl S.

Glycobiology. 2008 Aug;18(8):615-25. doi: 10.1093/glycob/cwn042. Epub 2008 May 19.

PMID:
18490429
31.

Protein O-mannosylation is crucial for cell wall integrity, septation and viability in fission yeast.

Willer T, Brandl M, Sipiczki M, Strahl S.

Mol Microbiol. 2005 Jul;57(1):156-70.

32.

An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene.

Balci B, Uyanik G, Dincer P, Gross C, Willer T, Talim B, Haliloglu G, Kale G, Hehr U, Winkler J, Topaloğlu H.

Neuromuscul Disord. 2005 Apr;15(4):271-5.

PMID:
15792865
33.

Targeted disruption of the Walker-Warburg syndrome gene Pomt1 in mouse results in embryonic lethality.

Willer T, Prados B, Falcón-Pérez JM, Renner-Müller I, Przemeck GK, Lommel M, Coloma A, Valero MC, de Angelis MH, Tanner W, Wolf E, Strahl S, Cruces J.

Proc Natl Acad Sci U S A. 2004 Sep 28;101(39):14126-31. Epub 2004 Sep 21.

34.

O-mannosyl glycans: from yeast to novel associations with human disease.

Willer T, Valero MC, Tanner W, Cruces J, Strahl S.

Curr Opin Struct Biol. 2003 Oct;13(5):621-30. Review.

PMID:
14568618
35.
36.

Mouse T cell membrane proteins Rt6-1 and Rt6-2 are arginine/protein mono(ADPribosyl)transferases and share secondary structure motifs with ADP-ribosylating bacterial toxins.

Koch-Nolte F, Petersen D, Balasubramanian S, Haag F, Kahlke D, Willer T, Kastelein R, Bazan F, Thiele HG.

J Biol Chem. 1996 Mar 29;271(13):7686-93.

37.

Capturing the value of your practice on retirement.

Willer T, Long D, Erler MJ.

J Indiana Dent Assoc. 1995 Fall;74(3):28-9. No abstract available.

PMID:
9517355

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