Deficiency of calcium/calmodulin-dependent serine protein kinase disrupts the excitatory-inhibitory balance of synapses by down-regulating GluN2B

Calcium/calmodulin-dependent serine protein kinase (CASK), a protein implicated in mental retardation and autism-spectrum disorders, interacts with T-Brain-1 (TBR1) to control extinction of associative memory in male mice

(2017) Tzyy-Nan Huang et al.   JOURNAL OF PSYCHIATRY & NEUROSCIENCE

CASK stabilizes neurexin and links it to liprin-α in a neuronal activity-dependent manner

(2016) Leslie E. W. LaConte et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Lateral Membrane-Specific MAGUK CASK Down-Regulates Na V 1.5 Channel in Cardiac MyocytesNovelty and Significance

(2016) Catherine A. Eichel et al.   CIRCULATION RESEARCH

X-linked intellectual disability gene CASK regulates postnatal brain growth in a non-cell autonomous manner

(2016) Sarika Srivastava et al.   Acta Neuropathologica Communications

T-Brain-1 - A Potential Master Regulator in Autism Spectrum Disorders

(2015) Hsiu-Chun Chuang et al.   Autism Research

Late-onset epileptic spasms in a female patient with a CASK mutation

(2015) Tomoshi Nakajiri et al.   BRAIN & DEVELOPMENT

Brain-specific transcriptional regulator T-brain-1 controls brain wiring and neuronal activity in autism spectrum disorders

(2015) Tzyy-Nan Huang et al.   Frontiers in Neuroscience

The genetic landscape of infantile spasms

(2014) Jacques L. Michaud et al.   HUMAN MOLECULAR GENETICS

Tbr1 haploinsufficiency impairs amygdalar axonal projections and results in cognitive abnormality

(2014) Tzyy-Nan Huang et al.   NATURE NEUROSCIENCE

Cellular Resolution Maps of X Chromosome Inactivation: Implications for Neural Development, Function, and Disease

(2014) Hao Wu et al.   NEURON

Neuronal excitation upregulates Tbr1, a high-confidence risk gene of autism, mediating Grin2b expression in the adult brain

(2014) Hsiu-Chun Chuang et al.   Frontiers in Cellular Neuroscience

Rabies virus glycoprotein variants display different patterns in rabies monosynaptic tracing

(2014) Takuma Mori et al.   Frontiers in Neuroanatomy

Clinical and radiological features of Japanese patients with a severe phenotype due toCASKmutations

(2012) Jun-ichi Takanashi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia

(2012) Hirotomo Saitsu et al.   EPILEPSIA

Escape from X inactivation in mice and humans

(2012) Joel B Berletch et al.   GENOME BIOLOGY

Novel intragenic duplications and mutations of CASK in patients with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH)

(2011) Shin Hayashi et al.   HUMAN GENETICS

Phenotypic spectrum associated with CASK loss-of-function mutations

(2011) U. Moog et al.   JOURNAL OF MEDICAL GENETICS

The Molecular Basis of the Caskin1 and Mint1 Interaction with CASK

(2011) Ryan L. Stafford et al.   JOURNAL OF MOLECULAR BIOLOGY

Regulation of X-chromosome inactivation by the X-inactivation centre

(2011) Sandrine Augui et al.   NATURE REVIEWS GENETICS

Distinct Modes of AMPA Receptor Suppression at Developing Synapses by GluN2A and GluN2B: Single-Cell NMDA Receptor Subunit Deletion In Vivo

(2011) John A. Gray et al.   NEURON

A Critical Role for GluN2B-Containing NMDA Receptors in Cortical Development and Function

(2011) Chih-Chieh Wang et al.   NEURON

CASK phosphorylation by PKA regulates the protein-protein interactions of CASK and expression of the NMDAR2b gene

(2010) Tzyy-Nan Huang et al.   JOURNAL OF NEUROCHEMISTRY

A Missense Mutation in CASK Causes FG Syndrome in an Italian Family

(2009) Giulio Piluso et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Calcium/calmodulin-dependent serine protein kinase and mental retardation

(2009) Yi-Ping Hsueh   ANNALS OF NEUROLOGY

CASK point mutation regulates protein–protein interactions and NR2b promoter activity

(2009) Tzyy-Nan Huang et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes

(2009) Anna Hackett et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

(2009) Patrick S Tarpey et al.   NATURE GENETICS

SAP97 and CASK mediate sorting of NMDA receptors through a previously unknown secretory pathway

(2009) Okunola Jeyifous et al.   NATURE NEUROSCIENCE

Complexin Controls the Force Transfer from SNARE Complexes to Membranes in Fusion

(2009) A. Maximov et al.   SCIENCE

CASK Functions as a Mg2+-Independent Neurexin Kinase

(2008) Konark Mukherjee et al.   CELL

Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum

(2008) Juliane Najm et al.   NATURE GENETICS