Tobias Willer

Tobias Willer

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Tobias Willer

Tobias Willer

Publications by authors named "Tobias Willer"

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Uniparental disomy unveils a novel recessive mutation in POMT2.

Neuromuscul Disord 2018 07 10;28(7):592-596. Epub 2018 Apr 10.

Department of Pediatrics, Roy J. and Lucille A. Carver College of Medicine, University of Iowa, Iowa City, Iowa, USA; Department of Neurology, Roy J. and Lucille A. Carver College of Medicine, University of Iowa, Iowa City, Iowa, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S09608966183005
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http://dx.doi.org/10.1016/j.nmd.2018.04.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6115279PMC
July 2018

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

Am J Hum Genet 2016 Nov 20;99(5):1181-1189. Epub 2016 Oct 20.

Laboratory for Pediatric Brain Disease, The Rockefeller University, New York, NY 10065, USA; Howard Hughes Medical Institute, Rady Children's Institute for Genomic Medicine, University of California, San Diego, San Diego, CA 92093, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.09.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5097947PMC
November 2016

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

Proc Natl Acad Sci U S A 2016 09 13;113(39):10992-7. Epub 2016 Sep 13.

Howard Hughes Medical Institute, The University of Iowa, Iowa City, IA 52242; Department of Molecular Physiology and Biophysics, The University of Iowa, Iowa City, IA 52242; Department of Neurology, The University of Iowa, Iowa City, IA 52242; Department of Internal Medicine, The University of Iowa, Iowa City, IA 52242;

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5047148PMC
http://dx.doi.org/10.1073/pnas.1605265113DOI Listing
September 2016

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

Hum Mutat 2015 Dec 23;36(12):1159-63. Epub 2015 Sep 23.

Departments of Pediatrics and Neurology, University of Iowa Carver College of Medicine, Iowa City, Iowa.

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http://dx.doi.org/10.1002/humu.22898DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4843780PMC
December 2015

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

J Biol Chem 2014 Oct 19;289(41):28138-48. Epub 2014 Aug 19.

From the Howard Hughes Medical Institute, Department of Molecular Physiology and Biophysics, Department of Neurology, Department of Internal Medicine, University of Iowa Roy J. and Lucille A. Carver College of Medicine, Iowa City, Iowa 52242-1101,

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http://dx.doi.org/10.1074/jbc.M114.597831DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4192470PMC
October 2014

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

Neuromuscul Disord 2014 Apr 11;24(4):312-20. Epub 2014 Jan 11.

Department of Neurology, University of Washington, Seattle, WA, United States; Department of Pediatrics, University of Washington, Seattle, WA, United States; Seattle Children's Hospital, Seattle, WA, United States. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2014.01.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3959257PMC
April 2014

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

Proc Natl Acad Sci U S A 2013 Dec 2;110(52):21024-9. Epub 2013 Dec 2.

Centre for Organismal Studies, Cell Chemistry and Center for Molecular Biology, University of Heidelberg, 69120 Heidelberg, Germany.

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http://dx.doi.org/10.1073/pnas.1316753110DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3876218PMC
December 2013

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

Science 2013 Aug 8;341(6148):896-9. Epub 2013 Aug 8.

Howard Hughes Medical Institute, Department of Molecular Physiology and Biophysics, University of Iowa Roy J. and Lucille A. Carver College of Medicine, Iowa City, IA 52242-1101, USA.

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http://dx.doi.org/10.1126/science.1239951DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3848040PMC
August 2013

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

Glycobiology 2013 Mar 2;23(3):295-302. Epub 2012 Nov 2.

Howard Hughes Medical Institute, University of Iowa Roy J. and Lucille A. Carver College of Medicine, Iowa City, IA 52242-1101, USA.

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http://dx.doi.org/10.1093/glycob/cws152DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3555503PMC
March 2013

POMT1 is essential for protein O-mannosylation in mammals.

Methods Enzymol 2010 ;479:323-42

Institut für Pflanzenwissenschaften (HIP), Ruprecht-Karls-Universität Heidelberg, Heidelberg, Germany.

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http://dx.doi.org/10.1016/S0076-6879(10)79018-2DOI Listing
December 2010

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

J Biol Chem 2009 Apr 24;284(17):11279-84. Epub 2009 Feb 24.

Howard Hughes Medical Institute, University of Iowa, Roy J. and Lucille A. Carver College of Medicine, Iowa City, Iowa 52242-1101, USA.

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http://www.jbc.org/lookup/doi/10.1074/jbc.C900007200
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http://dx.doi.org/10.1074/jbc.C900007200DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2670132PMC
April 2009

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

J Neurosci 2008 Oct;28(42):10567-75

Howard Hughes Medical Institute and Department of Molecular Physiology, University of Iowa, Iowa City, Iowa 52242, USA.

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http://dx.doi.org/10.1523/JNEUROSCI.2457-08.2008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2714190PMC
October 2008

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

Glycobiology 2008 Aug 19;18(8):615-25. Epub 2008 May 19.

Department of Cell Chemistry, Heidelberg Institute of Plant Sciences, University of Heidelberg, Im Neuenheimer Feld 360, 69120 Heidelberg, Germany.

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http://dx.doi.org/10.1093/glycob/cwn042DOI Listing
August 2008

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

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

Heidelberg Institute of Plant Sciences, Department V Cell Chemistry, University of Heidelberg, Im Neuenheimer Feld 360, D-69120 Heidelberg, Germany.

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http://dx.doi.org/10.1111/j.1365-2958.2005.04692.xDOI Listing
July 2005

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

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

Lehrstuhl für Zellbiologie und Pflanzenphysiologie, Universität Regensburg, 93040, Regensburg, Germany.

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http://dx.doi.org/10.1016/j.sbi.2003.09.003DOI Listing
October 2003

Characterization of POMT2, a novel member of the PMT protein O-mannosyltransferase family specifically localized to the acrosome of mammalian spermatids.

Glycobiology 2002 Nov;12(11):771-83

Lehrstuhl für Zellbiologie und Pflanzenphysiologie, Universität Regensburg, 93040 Regensburg, Germany.

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http://dx.doi.org/10.1093/glycob/cwf086DOI Listing
November 2002