LRP4 third β-propeller domain mutations cause novel congenital myasthenia by compromising agrin-mediated MuSK signaling in a position-specific manner

Structural basis of agrin-LRP4-MuSK signaling

(2012) Y. Zong et al.   GENES & DEVELOPMENT

Myasthenic syndrome AChRα C-loop mutant disrupts initiation of channel gating

(2012) Xin-Ming Shen et al.   JOURNAL OF CLINICAL INVESTIGATION

Lrp4 is a retrograde signal for presynaptic differentiation at neuromuscular synapses

(2012) Norihiro Yumoto et al.   NATURE

Distinct Roles of Muscle and Motoneuron LRP4 in Neuromuscular Junction Formation

(2012) Haitao Wu et al.   NEURON

The Structural Basis of DKK-Mediated Inhibition of Wnt/LRP Signaling

(2012) J. Bao et al.   Science Signaling

Autoantibodies to Lipoprotein-Related Protein 4 in Patients With Double-Seronegative Myasthenia Gravis

(2011) John S. Tzartos   ARCHIVES OF NEUROLOGY

MuSK levels differ between adult skeletal muscles and influence postsynaptic plasticity

(2011) Anna R. Punga et al.   EUROPEAN JOURNAL OF NEUROSCIENCE

Bone Overgrowth-associated Mutations in theLRP4Gene Impair Sclerostin Facilitator Function

(2011) Olivier Leupin et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Agrin Binds to the N-terminal Region of Lrp4 Protein and Stimulates Association between Lrp4 and the First Immunoglobulin-like Domain in Muscle-specific Kinase (MuSK)

(2011) Wei Zhang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Anti-LRP4 autoantibodies in AChR- and MuSK-antibody-negative myasthenia gravis

(2011) Alexandra Pevzner et al.   JOURNAL OF NEUROLOGY

Current status of the congenital myasthenic syndromes

(2011) Andrew G. Engel   NEUROMUSCULAR DISORDERS

LRP4 Mutations Alter Wnt/β-Catenin Signaling and Cause Limb and Kidney Malformations in Cenani-Lenz Syndrome

(2010) Yun Li et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Autoantibodies to low-density lipoprotein receptor-related protein 4 in myasthenia gravis

(2010) Osamu Higuchi et al.   ANNALS OF NEUROLOGY

A variant of the LRP4 gene affects the risk of chronic lymphocytic leukaemia transformation to Richter syndrome

(2010) Silvia Rasi et al.   BRITISH JOURNAL OF HAEMATOLOGY

To build a synapse: signaling pathways in neuromuscular junction assembly

(2010) H. Wu et al.   DEVELOPMENT

An ATF2-based luciferase reporter to monitor non-canonical Wnt signaling in xenopus embryos

(2010) Bisei Ohkawara et al.   DEVELOPMENTAL DYNAMICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

Lrp4 Regulates Initiation of Ureteric Budding and Is Crucial for Kidney Formation – A Mouse Model for Cenani-Lenz Syndrome

(2010) Courtney M. Karner et al.   PLoS One

Identification of an Agrin Mutation that Causes Congenital Myasthenia and Affects Synapse Function

(2009) Caroline Huzé et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Lrp4, a Novel Receptor for Dickkopf 1 and Sclerostin, Is Expressed by Osteoblasts and Regulates Bone Growth and Turnover In Vivo

(2009) Hong Y. Choi et al.   PLoS One

Lrp4 Is a Receptor for Agrin and Forms a Complex with MuSK

(2008) Natalie Kim et al.   CELL

New sequence variants associated with bone mineral density

(2008) Unnur Styrkarsdottir et al.   NATURE GENETICS

LRP4 Serves as a Coreceptor of Agrin

(2008) Bin Zhang et al.   NEURON

Lrp4 Modulates Extracellular Integration of Cell Signaling Pathways in Development

(2008) Atsushi Ohazama et al.   PLoS One