T. Willer

发表

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

J. Al-Aama, K. Campbell, E. Dikoglu, 2016, American journal of human genetics.

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

Francesco Muntoni, William B. Dobyns, Stanley F. Nelson, 2012, Nature Genetics.

Cell surface glycan engineering reveals that matriglycan alone can recapitulate dystroglycan binding and function

Jeremy L. Praissman, K. Campbell, M. O. Sheikh, 2021, Nature Communications.

POMT1 is essential for protein O-mannosylation in mammals.

T. Willer, S. Strahl, J. Cruces, 2010, Methods in enzymology.

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

Gerhard K. H. Przemeck, E. Wolf, J. Falcón-Pérez, 2004, Proceedings of the National Academy of Sciences of the United States of America.

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

H. Topaloglu, G. Kale, T. Willer, 2005, Neuromuscular Disorders.

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

E. Wolf, I. Renner-Müller, T. Willer, 2013, Proceedings of the National Academy of Sciences.

GMPPB‐Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation

K. Campbell, K. Mathews, V. Stefans, 2015, Human mutation.

214th ENMC International Workshop: Establishing an international consortium for gene discovery and clinical research for Congenital Muscle Disease, Heemskerk, the Netherlands, 6–18 October 2015

Y. Hérault, K. Mathews, J. Dowling, 2019, Neuromuscular Disorders.

Uniparental disomy unveils a novel recessive mutation in POMT2

K. Mathews, J. Dowling, B. Darbro, 2018, Neuromuscular Disorders.

Endogenous Glucuronyltransferase Activity of LARGE or LARGE2 Required for Functional Modification of α-Dystroglycan in Cells and Tissues*

K. Campbell, Y. Hara, C. Bönnemann, 2014, The Journal of Biological Chemistry.

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

H. van Bokhoven, S. Çırak, T. Voit, 2010, Neurology.

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

T. Willer, S. Strahl, M. Lommel, 2008, Glycobiology.

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

J. Abdenur, T. Winder, T. Willer, 2009, Neuromuscular Disorders.

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

D. MacArthur, M. Hurles, A. Hoischen, 2013, American journal of human genetics.

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

K. Campbell, R. Turk, K. Matsumura, 2016, Proceedings of the National Academy of Sciences.

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

Jeremy L. Praissman, S. Nelson, D. Stemple, 2016, eLife.

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

Liping Yu, K. Campbell, Y. Hara, 2014, eLife.

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

Jessie H. Conta, S. Gospe, S. Wallace, 2014, Neuromuscular Disorders.

A novel missense mutation in POMT 1 modulates the severe congenital muscular dystrophy phenotype associated with POMT 1 nonsense mutations

Jessie H. Conta, K. Campbell, S. Gospe, 2014 .

SGK196 Is a Glycosylation-Specific O-Mannose Kinase Required for Dystroglycan Function

S. Nelson, Liping Yu, F. Muntoni, 2013, Science.

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

M. Hurles, C. Walsh, F. Muntoni, 2013, American journal of human genetics.

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

M. Hurles, F. Muntoni, K. Campbell, 2013, Brain : a journal of neurology.

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

K. Campbell, Y. Hara, Zihan Zhu, 2012, Glycobiology.

Congenital Muscular Dystrophy and Hypoglycosylation of a-Dystroglycan

M. Hurles, C. Walsh, F. Muntoni, 2013 .

dystroglycan modification are conserved in LARGE2

K. Campbell, Y. Hara, Zihan Zhu, 2012 .

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

K. Campbell, E. Chouery, A. Mégarbané, 2011, European Journal of Human Genetics.

Loss of α-Dystroglycan Laminin Binding in Epithelium-derived Cancers Is Caused by Silencing of LARGE*S⃞♦

Michael D. Henry, K. Campbell, H. Harper, 2009, Journal of Biological Chemistry.

Brain and Eye Malformations Resembling Walker–Warburg Syndrome Are Recapitulated in Mice by Dystroglycan Deletion in the Epiblast

K. Campbell, T. Willer, J. Satz, 2008, Journal of Neuroscience.

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

K. Campbell, H. Freeze, K. Raymond, 2013, Molecular genetics and metabolism.

A dystroglycan mutation associated with limb-girdle muscular dystrophy.

F. Muntoni, K. Campbell, Y. Hara, 2011, The New England journal of medicine.

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

A. Murphy, H. Okamoto, Katie Cavino, 2017, Nature Communications.

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

M. C. Valero, W. Tanner, T. Willer, 2003, Current opinion in structural biology.

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

T. Willer, R. Deutzmann, S. Strahl, 2002, Glycobiology.

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

Martin Brandl, Matthias Sipiczki, M. Brandl, 2005, Molecular microbiology.

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

G. Sedmak, M. Judas, M. Radoš, 2009, Neuropediatrics.