Mutations in gamma adducin are associated with inherited cerebral palsy

γ-Adducin Promotes Process Outgrowth and Secretory Protein Exit from the Golgi Apparatus

(2012) Hong Lou et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes

(2012) D. G. MacArthur et al.   SCIENCE

The Use of Next-Generation Sequencing in Movement Disorders

(2012) Catharine E. Krebs et al.   Frontiers in Genetics

Adaptor Protein Complex 4 Deficiency Causes Severe Autosomal-Recessive Intellectual Disability, Progressive Spastic Paraplegia, Shy Character, and Short Stature

(2011) Rami Abou Jamra et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Should children with cerebral palsy and normal imaging undergo testing for inherited metabolic disorders?

(2011) JANE M LEONARD et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

The association of genetic polymorphisms with cerebral palsy: a meta-analysis

(2011) DE WU et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Prediction of Short Linear Protein Binding Regions

(2011) Catherine Mooney et al.   JOURNAL OF MOLECULAR BIOLOGY

Learning-related feedforward inhibitory connectivity growth required for memory precision

(2011) Sarah Ruediger et al.   NATURE

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

(2011) Hossein Najmabadi et al.   NATURE

Hts/Adducin Controls Synaptic Elaboration and Elimination

(2011) Jan Pielage et al.   NEURON

β-Adducin Is Required for Stable Assembly of New Synapses and Improved Memory upon Environmental Enrichment

(2011) Ewa Bednarek et al.   NEURON

Disruption of Spectrin-Like Cytoskeleton in Differentiating Keratinocytes by PKCδ Activation Is Associated with Phosphorylated Adducin

(2011) Kong-Nan Zhao et al.   PLoS One

Effects of brefeldin A-inhibited guanine nucleotide-exchange (BIG) 1 and KANK1 proteins on cell polarity and directed migration during wound healing

(2011) C.-C. Li et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

α-Adducin Translocates to the Nucleus upon Loss of Cell-Cell Adhesions

(2011) Chien-Lin Chen et al.   TRAFFIC

Dominant-Negative Mutations in α-II Spectrin Cause West Syndrome with Severe Cerebral Hypomyelination, Spastic Quadriplegia, and Developmental Delay

(2010) Hirotomo Saitsu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA)

(2010) Michael C. Kruer et al.   ANNALS OF NEUROLOGY

Sorting of the Alzheimer's Disease Amyloid Precursor Protein Mediated by the AP-4 Complex

(2010) Patricia V. Burgos et al.   DEVELOPMENTAL CELL

Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability

(2010) A. Moreno-De-Luca et al.   JOURNAL OF MEDICAL GENETICS

Carboxypeptidase E cytoplasmic tail mediates localization of synaptic vesicles to the pre-active zone in hypothalamic pre-synaptic terminals

(2010) Hong Lou et al.   JOURNAL OF NEUROCHEMISTRY

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

The glutamate transporter excitatory amino acid carrier 1 associates with the actin-binding protein α-adducin

(2010) M.G. Bianchi et al.   NEUROSCIENCE

Targeted deletion of the γ-adducin gene (Add3) in mice reveals differences in α-adducin interactions in erythroid and nonerythroid cells

(2009) Kenneth E. Sahr et al.   AMERICAN JOURNAL OF HEMATOLOGY

Mutation in the AP4M1 Gene Provides a Model for Neuroaxonal Injury in Cerebral Palsy

(2009) Annemieke J.M.H. Verkerk et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Adducin forms a bridge between the erythrocyte membrane and its cytoskeleton and regulates membrane cohesion

(2009) W. A. Anong et al.   BLOOD

β-adducin (Add2) KO mice show synaptic plasticity, motor coordination and behavioral deficits accompanied by changes in the expression and phosphorylation levels of the α- and γ-adducin subunits

(2009) F. Porro et al.   GENES BRAIN AND BEHAVIOR

Polarized sorting of AMPA receptors to the somatodendritic domain is regulated by adaptor protein AP-4

(2009) Shinji Matsuda et al.   NEUROSCIENCE RESEARCH

Kank regulates RhoA-dependent formation of actin stress fibers and cell migration via 14-3-3 in PI3K–Akt signaling

(2008) Naoto Kakinuma et al.   JOURNAL OF CELL BIOLOGY