Inherited genetic variants in autism-related CNTNAP2 show perturbed trafficking and ATF6 activation
Published 2012 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Inherited genetic variants in autism-related CNTNAP2 show perturbed trafficking and ATF6 activation
Authors
Keywords
-
Journal
HUMAN MOLECULAR GENETICS
Volume 21, Issue 21, Pages 4761-4773
Publisher
Oxford University Press (OUP)
Online
2012-08-08
DOI
10.1093/hmg/dds320
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders
- (2011) Fady M. Mikhail et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Genetic variation in CNTNAP2 alters brain function during linguistic processing in healthy individuals
- (2011) Heather C. Whalley et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS
- Genetic Heritability and Shared Environmental Factors Among Twin Pairs With Autism
- (2011) Joachim Hallmayer ARCHIVES OF GENERAL PSYCHIATRY
- A review of the mammalian unfolded protein response
- (2011) Anirikh Chakrabarti et al. BIOTECHNOLOGY AND BIOENGINEERING
- Absence of CNTNAP2 Leads to Epilepsy, Neuronal Migration Abnormalities, and Core Autism-Related Deficits
- (2011) Olga Peñagarikano et al. CELL
- Protein folding stress in neurodegenerative diseases: a glimpse into the ER
- (2011) Soledad Matus et al. CURRENT OPINION IN CELL BIOLOGY
- Reduced transcript expression of genes affected by inherited and de novo CNVs in autism
- (2011) Alex S Nord et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- CNTNAP2variants affect early language development in the general population
- (2011) A. J. O. Whitehouse et al. GENES BRAIN AND BEHAVIOR
- Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations
- (2011) Brian J O'Roak et al. NATURE GENETICS
- The conundrums of understanding genetic risks for autism spectrum disorders
- (2011) Matthew W State et al. NATURE NEUROSCIENCE
- Road to Ruin: Targeting Proteins for Degradation in the Endoplasmic Reticulum
- (2011) M. H. Smith et al. SCIENCE
- The Crystal Structure of the α-Neurexin-1 Extracellular Region Reveals a Hinge Point for Mediating Synaptic Adhesion and Function
- (2011) Meghan T. Miller et al. STRUCTURE
- NMD: RNA biology meets human genetic medicine
- (2010) Madhuri Bhuvanagiri et al. BIOCHEMICAL JOURNAL
- Neuroligin Trafficking Deficiencies Arising from Mutations in the α/β-Hydrolase Fold Protein Family
- (2010) Antonella De Jaco et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Normal variation in fronto-occipital circuitry and cerebellar structure with an autism-associated polymorphism of CNTNAP2
- (2010) Geoffrey C.Y. Tan et al. NEUROIMAGE
- The Macromolecular Architecture of Extracellular Domain of αNRXN1: Domain Organization, Flexibility, and Insights into Trans-Synaptic Disposition
- (2010) Davide Comoletti et al. STRUCTURE
- Autism spectrum disorder is related to endoplasmic reticulum stress induced by mutations in the synaptic cell adhesion molecule, CADM1
- (2010) E Fujita et al. Cell Death & Disease
- Genome-Wide Copy Number Variation in Epilepsy: Novel Susceptibility Loci in Idiopathic Generalized and Focal Epilepsies
- (2010) Heather C. Mefford et al. PLoS Genetics
- 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
- Neuroserpin Polymers Activate NF-κB by a Calcium Signaling Pathway That Is Independent of the Unfolded Protein Response
- (2009) Mark J. Davies et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Axonal targeting of Caspr2 in hippocampal neurons via selective somatodendritic endocytosis
- (2009) C. Bel et al. JOURNAL OF CELL SCIENCE
- A Neuroligin-4 Missense Mutation Associated with Autism Impairs Neuroligin-4 Folding and Endoplasmic Reticulum Export
- (2009) C. Zhang et al. JOURNAL OF NEUROSCIENCE
- Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes
- (2009) J Elia et al. MOLECULAR PSYCHIATRY
- Disruption of CNTNAP2 and additional structural genome changes in a boy with speech delay and autism spectrum disorder
- (2009) Martin Poot et al. NEUROGENETICS
- Gene Associated with Seizures, Autism, and Hepatomegaly in an Amish Girl
- (2009) Christopher Jackman et al. PEDIATRIC NEUROLOGY
- Genome-Wide Analyses of Exonic Copy Number Variants in a Family-Based Study Point to Novel Autism Susceptibility Genes
- (2009) Maja Bucan et al. PLoS Genetics
- Linkage, Association, and Gene-Expression Analyses Identify CNTNAP2 as an Autism-Susceptibility Gene
- (2008) Maricela Alarcón et al. AMERICAN JOURNAL OF HUMAN GENETICS
- A Common Genetic Variant in the Neurexin Superfamily Member CNTNAP2 Increases Familial Risk of Autism
- (2008) Dan E. Arking et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Molecular Cytogenetic Analysis and Resequencing of Contactin Associated Protein-Like 2 in Autism Spectrum Disorders
- (2008) Betul Bakkaloglu et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Postsynaptic Density-93 Clusters Kv1 Channels at Axon Initial Segments Independently of Caspr2
- (2008) Y. Ogawa et al. JOURNAL OF NEUROSCIENCE
- Advances in autism genetics: on the threshold of a new neurobiology
- (2008) Brett S. Abrahams et al. NATURE REVIEWS GENETICS
- A Functional Genetic Link between Distinct Developmental Language Disorders
- (2008) Sonja C. Vernes et al. NEW ENGLAND JOURNAL OF MEDICINE
Find the ideal target journal for your manuscript
Explore over 38,000 international journals covering a vast array of academic fields.
SearchAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started