AlteredGPM6A/M6Dosage Impairs Cognition and Causes Phenotypes Responsive to Cholesterol in Human andDrosophila

Prenatal stress changes the glycoprotein GPM6A gene expression and induces epigenetic changes in rat offspring brain

(2013) Melisa C Monteleone et al.   Epigenetics

A critical role for the cholesterol-associated proteolipids PLP and M6B in myelination of the central nervous system

(2013) Hauke B. Werner et al.   GLIA

A suppressor screen in Mecp2 mutant mice implicates cholesterol metabolism in Rett syndrome

(2013) Christie M Buchovecky et al.   NATURE GENETICS

A single gene defect causing claustrophobia

(2013) A El-Kordi et al.   Translational Psychiatry

Deficiency for the Ubiquitin Ligase UBE3B in a Blepharophimosis-Ptosis-Intellectual-Disability Syndrome

(2012) Lina Basel-Vanagaite et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A role for the membrane protein M6 in the Drosophila visual system

(2012) María Zappia et al.   BMC NEUROSCIENCE

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome

(2012) David A Koolen et al.   NATURE GENETICS

Therapy of Pelizaeus-Merzbacher disease in mice by feeding a cholesterol-enriched diet

(2012) Gesine Saher et al.   NATURE MEDICINE

X-linked Angelman-like syndrome caused by Slc9a6 knockout in mice exhibits evidence of endosomal–lysosomal dysfunction

(2011) Petter Strømme et al.   BRAIN

Neuronal glycoprotein M6a induces filopodia formation via association with cholesterol-rich lipid rafts

(2011) Camila Scorticati et al.   JOURNAL OF NEUROCHEMISTRY

M6 Membrane Protein Plays an Essential Role in Drosophila Oogenesis

(2011) María Paula Zappia et al.   PLoS One

Hypomorphic Temperature-Sensitive Alleles of NSDHL Cause CK Syndrome

(2010) Keith W. McLarren et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Survival strategies of a sterol auxotroph

(2010) M. Carvalho et al.   DEVELOPMENT

Filopodial protrusions induced by glycoprotein M6a exhibit high motility and aids synapse formation

(2010) Marcela A. Brocco et al.   EUROPEAN JOURNAL OF NEUROSCIENCE

CNTNAP2 and NRXN1 Are Mutated in Autosomal-Recessive Pitt-Hopkins-like Mental Retardation and Determine the Level of a Common Synaptic Protein in Drosophila

(2009) Christiane Zweier et al.   AMERICAN JOURNAL OF HUMAN GENETICS

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

(2009) Helen V. Firth et al.   AMERICAN JOURNAL OF HUMAN GENETICS

pySolo: a complete suite for sleep analysis in Drosophila

(2009) G. F. Gilestro et al.   BIOINFORMATICS

A Drosophila Resource of Transgenic RNAi Lines for Neurogenetics

(2009) Jian-Quan Ni et al.   GENETICS

Evolutionary Conservation of Vertebrate Blood-Brain Barrier Chemoprotective Mechanisms in Drosophila

(2009) F. Mayer et al.   JOURNAL OF NEUROSCIENCE

Expression of the Axonal Membrane Glycoprotein M6a Is Regulated by Chronic Stress

(2009) Ben Cooper et al.   PLoS One

SLC9A6 Mutations Cause X-Linked Mental Retardation, Microcephaly, Epilepsy, and Ataxia, a Phenotype Mimicking Angelman Syndrome

(2008) Gregor D. Gilfillan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Glycoprotein M6a is present in glutamatergic axons in adult rat forebrain and cerebellum

(2008) Ben Cooper et al.   BRAIN RESEARCH

Organization and Function of the Blood Brain Barrier in Drosophila

(2008) T. Stork et al.   JOURNAL OF NEUROSCIENCE

Inhibition of Mouse GPM6A Expression Leads to Decreased Differentiation of Neurons Derived from Mouse Embryonic Stem Cells

(2008) Hideo Michibata et al.   STEM CELLS AND DEVELOPMENT

Human GPM6A Is Associated With Differentiation and Neuronal Migration of Neurons Derived from Human Embryonic Stem Cells

(2008) Hideo Michibata et al.   STEM CELLS AND DEVELOPMENT