An autism-causing calcium channel variant functions with selective autophagy to alter axon targeting and behavior

A critical neurodevelopmental role for L-type voltage-gated calcium channels in neurite extension and radial migration

(2018) Satoshi Kamijo et al.   JOURNAL OF NEUROSCIENCE

An interactome perturbation framework prioritizes damaging missense mutations for developmental disorders

(2018) Siwei Chen et al.   NATURE GENETICS

The Heritability of Autism Spectrum Disorder

(2017) Sven Sandin et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Cross-disorder risk gene CACNA1C differentially modulates susceptibility to psychiatric disorders during development and adulthood

(2017) N Dedic et al.   MOLECULAR PSYCHIATRY

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

(2017) Holly A F Stessman et al.   NATURE GENETICS

Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains

(2017) Madeleine R Geisheker et al.   NATURE NEUROSCIENCE

Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder

(2017) Ryan K C Yuen et al.   NATURE NEUROSCIENCE

BORC/kinesin-1 ensemble drives polarized transport of lysosomes into the axon

(2017) Ginny G. Farías et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Whole exome sequencing reveals inherited and de novo variants in autism spectrum disorder: a trio study from Saudi families

(2017) Bashayer Al-Mubarak et al.   Scientific Reports

Transition between synaptic branch formation and synaptogenesis is regulated by the lin-4 microRNA

(2016) Yan Xu et al.   DEVELOPMENTAL BIOLOGY

KIF1A/UNC-104 Transports ATG-9 to Regulate Neurodevelopment and Autophagy at Synapses

(2016) Andrea K.H. Stavoe et al.   DEVELOPMENTAL CELL

Comprehensive molecular testing in patients with high functioning autism spectrum disorder

(2016) Maria Isabel Alvarez-Mora et al.   MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS

Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population

(2016) Elise B Robinson et al.   NATURE GENETICS

Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability

(2016) Stefan H Lelieveld et al.   NATURE NEUROSCIENCE

De novo genic mutations among a Chinese autism spectrum disorder cohort

(2016) Tianyun Wang et al.   Nature Communications

An autism-associated mutation in CaV1.3 channels has opposing effects on voltage- and Ca2+-dependent regulation

(2016) Worawan B. Limpitikul et al.   Scientific Reports

Regulation of Gap Junction Dynamics by UNC-44/ankyrin and UNC-33/CRMP through VAB-8 in C. elegans Neurons

(2016) Lingfeng Meng et al.   PLoS Genetics

Autophagy linked FYVE (Alfy/WDFY3) is required for establishing neuronal connectivity in the mammalian brain

(2016) Joanna M Dragich et al.   eLife

Long QT syndrome with craniofacial, digital, and neurologic features: Is it useful to distinguish between timothy syndrome types 1 and 2?

(2015) Vinson Diep et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms

(2015) Lena Damaj et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Erratum: Functional implications of a psychiatric risk variant within CACNA1C in induced human neurons

(2015) T Yoshimizu et al.   MOLECULAR PSYCHIATRY

The C. elegans adult neuronal IIS/FOXO transcriptome reveals adult phenotype regulators

(2015) Rachel Kaletsky et al.   NATURE

Whole-genome sequencing of quartet families with autism spectrum disorder

(2015) Ryan K C Yuen et al.   NATURE MEDICINE

Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms

(2015) Alissa M. D’Gama et al.   NEURON

Schizophrenia Related Variants in CACNA1C also Confer Risk of Autism

(2015) Jun Li et al.   PLoS One

Synergistic Interactions between Drosophila Orthologues of Genes Spanned by De Novo Human CNVs Support Multiple-Hit Models of Autism

(2015) Stuart J. Grice et al.   PLoS Genetics

Synaptic, transcriptional and chromatin genes disrupted in autism

(2014) Silvia De Rubeis et al.   NATURE

The contribution of de novo coding mutations to autism spectrum disorder

(2014) Ivan Iossifov et al.   NATURE

Rare Mutations of CACNB2 Found in Autism Spectrum Disease-Affected Families Alter Calcium Channel Function

(2014) Alexandra F. S. Breitenkamp et al.   PLoS One

Massively Parallel Sequencing of Patients with Intellectual Disability, Congenital Anomalies and/or Autism Spectrum Disorders with a Targeted Gene Panel

(2014) Maggie Brett et al.   PLoS One

Differences in the right inferior longitudinal fasciculus but no general disruption of white matter tracts in children with autism spectrum disorder

(2014) Kami Koldewyn et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The Caenorhabditis elegans microtubule minus-end binding homolog PTRN-1 stabilizes synapses and neurites

(2014) Jana Dorfman Marcette et al.   eLife

Axonal deficits in young adults with High Functioning Autism and their impact on processing speed

(2014) Mariana Lazar et al.   NeuroImage-Clinical

Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome Sequencing

(2013) Yong-hui Jiang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The scaffold protein EPG-7 links cargo–receptor complexes with the autophagic assembly machinery

(2013) Long Lin et al.   JOURNAL OF CELL BIOLOGY

Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis

(2013)   LANCET

Autophagy Negatively Regulates Early Axon Growth in Cortical Neurons

(2013) B.-K. Ban et al.   MOLECULAR AND CELLULAR BIOLOGY

Timothy syndrome is associated with activity-dependent dendritic retraction in rodent and human neurons

(2013) Jocelyn F Krey et al.   NATURE NEUROSCIENCE

Differences in White Matter Fiber Tract Development Present From 6 to 24 Months in Infants With Autism

(2012) Jason J. Wolff et al.   AMERICAN JOURNAL OF PSYCHIATRY

Diffusion Tensor Imaging in Autism Spectrum Disorder: A Review

(2012) Brittany G. Travers et al.   Autism Research

MIG-10 Functions with ABI-1 to Mediate the UNC-6 and SLT-1 Axon Guidance Signaling Pathways

(2012) Yan Xu et al.   PLoS Genetics

Support for calcium channel gene defects in autism spectrum disorders

(2012) Ake Tzu-Hui Lu et al.   Molecular Autism

Phenotypical Manifestations of Mutations in the Genes Encoding Subunits of the Cardiac Voltage–Dependent L-Type Calcium Channel

(2011) Carlo Napolitano et al.   CIRCULATION RESEARCH

PPM-1, a PP2Cα/β phosphatase, Regulates Axon Termination and Synapse Formation inCaenorhabditis elegans

(2011) Erik D. Tulgren et al.   GENETICS

Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders

(2011) C. P. Schaaf et al.   HUMAN MOLECULAR GENETICS

The α1 Subunit EGL-19, the α2/δ Subunit UNC-36, and the β Subunit CCB-1 Underlie Voltage-dependent Calcium Currents inCaenorhabditis elegansStriated Muscle

(2011) Viviane Lainé et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Mouse model of Timothy syndrome recapitulates triad of autistic traits

(2011) P. L. Bader et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

p62/SQSTM1 and ALFY interact to facilitate the formation of p62 bodies/ALIS and their degradation by autophagy

(2010) Terje Høyvarde Clausen et al.   Autophagy

The Selective Macroautophagic Degradation of Aggregated Proteins Requires the PI3P-Binding Protein Alfy

(2010) Maria Filimonenko et al.   MOLECULAR CELL

mec-15 Encodes an F-Box Protein Required for Touch Receptor Neuron Mechanosensation, Synapse Formation and Development

(2009) A. Bounoutas et al.   GENETICS

Autophagy promotes synapse development inDrosophila

(2009) Wei Shen et al.   JOURNAL OF CELL BIOLOGY

High-density SNP association study of the 17q21 chromosomal region linked to autism identifies CACNA1G as a novel candidate gene

(2009) S P Strom et al.   MOLECULAR PSYCHIATRY

Presynaptic CaV2 calcium channel traffic requires CALF-1 and the α2δ subunit UNC-36

(2009) Yasunori Saheki et al.   NATURE NEUROSCIENCE

A Genetic Screen for Dihydropyridine (DHP)-Resistant Worms Reveals New Residues Required for DHP-Blockage of Mammalian Calcium Channels

(2008) Trevor C. Y. Kwok et al.   PLoS Genetics