Loss of MAGEL2 in Prader-Willi syndrome leads to decreased secretory granule and neuropeptide production

An early endosome–derived retrograde trafficking pathway promotes secretory granule maturation

(2020) Cheng-I J. Ma et al.   JOURNAL OF CELL BIOLOGY

Angelman Syndrome: From Mouse Models to Therapy

(2020) Diana C. Rotaru et al.   NEUROSCIENCE

MAGE cancer-testis antigens protect the mammalian germline under environmental stress

(2019) Klementina Fon Tacer et al.   Science Advances

ilastik: interactive machine learning for (bio)image analysis

(2019) Stuart Berg et al.   NATURE METHODS

Production of Lentiviral Vectors Using Suspension Cells Grown in Serum-free Media

(2019) Matthew Bauler et al.   Molecular Therapy-Methods & Clinical Development

Hypothalamic loss of Snord116 recapitulates the hyperphagia of Prader-Willi syndrome

(2018) Joseph Polex-Wolf et al.   JOURNAL OF CLINICAL INVESTIGATION

Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype ofMAGEL2-related disorders

(2018) Rebekah Jobling et al.   JOURNAL OF MEDICAL GENETICS

A high-fidelity Cas9 mutant delivered as a ribonucleoprotein complex enables efficient gene editing in human hematopoietic stem and progenitor cells

(2018) Christopher A. Vakulskas et al.   NATURE MEDICINE

Schaaf-Yang syndrome overview: Report of 78 individuals

(2018) John McCarthy et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Dental pulp stem cells for the study of neurogenetic disorders

(2017) A. Kaitlyn Victor et al.   HUMAN MOLECULAR GENETICS

The Prader-Willi syndrome proteins MAGEL2 and necdin regulate leptin receptor cell surface abundance through ubiquitination pathways

(2017) Tishani Methsala Wijesuriya et al.   HUMAN MOLECULAR GENETICS

Inhibition of p25/Cdk5 Attenuates Tauopathy in Mouse and iPSC Models of Frontotemporal Dementia

(2017) Jinsoo Seo et al.   JOURNAL OF NEUROSCIENCE

Dopamine pathway imbalance in mice lacking Magel2, a Prader-Willi syndrome candidate gene.

(2016) Chloe Luck et al.   BEHAVIORAL NEUROSCIENCE

The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families

(2016) Michael D. Fountain et al.   GENETICS IN MEDICINE

Loss of Magel2 impairs the development of hypothalamic Anorexigenic circuits

(2016) Julien Maillard et al.   HUMAN MOLECULAR GENETICS

Deficiency in prohormone convertase PC1 impairs prohormone processing in Prader-Willi syndrome

(2016) Lisa C. Burnett et al.   JOURNAL OF CLINICAL INVESTIGATION

Engineering microdeletions and microduplications by targeting segmental duplications with CRISPR

(2016) Derek J C Tai et al.   NATURE NEUROSCIENCE

Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis

(2015) Dan Mejlachowicz et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Autism spectrum disorder in Prader-Willi syndrome: A systematic review

(2015) Jeffrey A. Bennett et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Extracting Accurate Precursor Information for Tandem Mass Spectra by RawConverter

(2015) Lin He et al.   ANALYTICAL CHEMISTRY

An Early Postnatal Oxytocin Treatment Prevents Social and Learning Deficits in Adult Mice Deficient for Magel2, a Gene Involved in Prader-Willi Syndrome and Autism

(2015) Hamid Meziane et al.   BIOLOGICAL PSYCHIATRY

Degradation of AMPK by a Cancer-Specific Ubiquitin Ligase

(2015) Carlos T. Pineda et al.   CELL

ProLuCID: An improved SEQUEST-like algorithm with enhanced sensitivity and specificity

(2015) T. Xu et al.   Journal of Proteomics

USP7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and Is Mutated in a Human Neurodevelopmental Disorder

(2015) Yi-Heng Hao et al.   MOLECULAR CELL

Characterization of neurons from immortalized dental pulp stem cells for the study of neurogenetic disorders

(2015) Nora Urraca et al.   Stem Cell Research

Human dental pulp stem cells: Applications in future regenerative medicine

(2015) Pravin D Potdar   World Journal of Stem Cells

Census 2: isobaric labeling data analysis

(2014) Sung Kyu Robin Park et al.   BIOINFORMATICS

Regulation of WASH-Dependent Actin Polymerization and Protein Trafficking by Ubiquitination

(2013) Yi-Heng Hao et al.   CELL

Quantitative accuracy in mass spectrometry based proteomics of complex samples: The impact of labeling and precursor interference

(2013) AnnSofi Sandberg et al.   Journal of Proteomics

Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism

(2013) Christian P Schaaf et al.   NATURE GENETICS

Rapid Single-Step Induction of Functional Neurons from Human Pluripotent Stem Cells

(2013) Yingsha Zhang et al.   NEURON

Retromer-mediated endosomal protein sorting: all WASHed up!

(2013) Matthew N.J. Seaman et al.   TRENDS IN CELL BIOLOGY

Role of Adaptor Proteins in Secretory Granule Biogenesis and Maturation

(2013) Mathilde L. Bonnemaison et al.   Frontiers in Endocrinology

Prader-Willi Syndrome: Obesity due to Genomic Imprinting

(2012) Merlin G. Butler   CURRENT GENOMICS

The retromer complex - endosomal protein recycling and beyond

(2012) M. N. J. Seaman   JOURNAL OF CELL SCIENCE

WASH Knockout T Cells Demonstrate Defective Receptor Trafficking, Proliferation, and Effector Function

(2012) J. T. Piotrowski et al.   MOLECULAR AND CELLULAR BIOLOGY

Trafficking defects in WASH-knockout fibroblasts originate from collapsed endosomal and lysosomal networks

(2012) Timothy S. Gomez et al.   MOLECULAR BIOLOGY OF THE CELL

Getting active: protein sorting in endocytic recycling

(2012) Victor W. Hsu et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Impaired Hypothalamic Regulation of Endocrine Function and Delayed Counterregulatory Response to Hypoglycemia inMagel2-Null Mice

(2011) Alysa A. Tennese et al.   ENDOCRINOLOGY

A single postnatal injection of oxytocin rescues the lethal feeding behaviour in mouse newborns deficient for the imprinted Magel2 gene

(2010) Fabienne Schaller et al.   HUMAN MOLECULAR GENETICS

The Metabolic Phenotype of Prader-Willi Syndrome (PWS) in Childhood: Heightened Insulin Sensitivity Relative to Body Mass Index

(2010) Andrea M. Haqq et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

MAGE-RING Protein Complexes Comprise a Family of E3 Ubiquitin Ligases

(2010) Jennifer M. Doyle et al.   MOLECULAR CELL

The Challenge of Translation in Social Neuroscience: A Review of Oxytocin, Vasopressin, and Affiliative Behavior

(2010) Thomas R. Insel   NEURON

The Peptide That Binds

(2010) Kai MacDonald et al.   HARVARD REVIEW OF PSYCHIATRY

GOrilla: a tool for discovery and visualization of enriched GO terms in ranked gene lists

(2009) Eran Eden et al.   BMC BIOINFORMATICS

A FAM21-Containing WASH Complex Regulates Retromer-Dependent Sorting

(2009) Timothy S. Gomez et al.   DEVELOPMENTAL CELL

Loss of Magel2, a Candidate Gene for Features of Prader-Willi Syndrome, Impairs Reproductive Function in Mice

(2009) Rebecca E. Mercer et al.   PLoS One

The Mechanochemistry of Endocytosis

(2009) Jian Liu et al.   PLOS BIOLOGY

Prader–Willi syndrome

(2008) Suzanne B Cassidy et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

High Prevalence of Central Adrenal Insufficiency in Patients with Prader-Willi Syndrome

(2008) Roderick F. A. de Lind van Wijngaarden et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Endocytic transport of integrins during cell migration and invasion

(2008) Patrick Caswell et al.   TRENDS IN CELL BIOLOGY