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

Selective overexpression of Toll-like receptor-4 in skeletal muscle impairs metabolic adaptation to high-fat feeding

(2015) Ryan P. McMillan et al.   AMERICAN JOURNAL OF PHYSIOLOGY-REGULATORY INTEGRATIVE AND COMPARATIVE PHYSIOLOGY

Effect of mitochondrial stress on systemic metabolism

(2015) Myung-Shik Lee   Annals of the New York Academy of Sciences

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

(2015) Tomoshi Nakajiri et al.   BRAIN & DEVELOPMENT

MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options

(2015) Ayman W. El-Hattab et al.   MOLECULAR GENETICS AND METABOLISM

Phenotypic and molecular insights into CASK-related disorders in males

(2015) Ute Moog et al.   Orphanet Journal of Rare Diseases

Central Presynaptic Terminals Are Enriched in ATP but the Majority Lack Mitochondria

(2015) Vrushali Chavan et al.   PLoS One

A Critical Role of GIT1 in Vertebrate and Invertebrate Brain Development

(2015) Sung-Tae Hong et al.   Experimental Neurobiology

The genetic landscape of infantile spasms

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

High expression of CASK correlates with progression and poor prognosis of colorectal cancer

(2014) Jin-Lai Wei et al.   TUMOR BIOLOGY

Neuron-specific protein interactions of Drosophila CASK-β are revealed by mass spectrometry

(2014) Konark Mukherjee et al.   Frontiers in Molecular Neuroscience

Impaired energy metabolism in a Drosophila model of mitochondrial aconitase deficiency

(2013) Zhang Cheng et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Structural constraints and functional divergences in CASK evolution

(2013) Leslie LaConte et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

Mitochondrial disease and epilepsy

(2013) Hoon-Chul Kang et al.   BRAIN & DEVELOPMENT

A de novo CASK mutation in pontocerebellar hypoplasia type 3 with early myoclonic epilepsy and tetralogy of Fallot

(2013) Kazuyuki Nakamura et al.   BRAIN & DEVELOPMENT

Calcium/calmodulin-dependent serine protein kinase is involved in exendin-4-induced insulin secretion in INS-1 cells

(2013) Zheng-Qiu Zhu et al.   METABOLISM-CLINICAL AND EXPERIMENTAL

Disorders of the Optic Nerve in Mitochondrial Cytopathies: New Ideas on Pathogenesis and Therapeutic Targets

(2012) Kamil S. Sitarz et al.   Current Neurology and Neuroscience Reports

CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia

(2012) Hirotomo Saitsu et al.   EPILEPSIA

A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia

(2012) Radek Szklarczyk et al.   HUMAN MOLECULAR GENETICS

CASK (LIN2) interacts with Cx43 in wounded skin and their coexpression affects cell migration

(2012) L. Marquez-Rosado et al.   JOURNAL OF CELL SCIENCE

Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient

(2012) Lydie Burglen et al.   Orphanet Journal of Rare Diseases

The Mitochondrial Connection in Auditory Neuropathy

(2011) Anthony T. Cacace et al.   AUDIOLOGY AND NEURO-OTOLOGY

Mutations of TSEN and CASK genes are prevalent in pontocerebellar hypoplasias type 2 and 4

(2011) V. Valayannopoulos et al.   BRAIN

Regulation of Mitochondrial Protein Import by Cytosolic Kinases

(2011) Oliver Schmidt et al.   CELL

Phenotypic spectrum associated with CASK loss-of-function mutations

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

Nestin Reporter Transgene Labels Multiple Central Nervous System Precursor Cells

(2011) Avery S. Walker et al.   NEURAL PLASTICITY

A case of Ohtahara syndrome with cytochrome oxidase deficiency

(2010) AN Williams et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Central Regulation of Locomotor Behavior of Drosophila melanogaster Depends on a CASK Isoform Containing CaMK-Like and L27 Domains

(2010) J. B. Slawson et al.   GENETICS

Evolution of CASK into a Mg2+-Sensitive Kinase

(2010) K. Mukherjee et al.   Science Signaling

A Simple Composite Phenotype Scoring System for Evaluating Mouse Models of Cerebellar Ataxia

(2010) Stephan J. Guyenet et al.   Jove-Journal of Visualized Experiments

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

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

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

PGC-1α/β induced expression partially compensates for respiratory chain defects in cells from patients with mitochondrial disorders

(2009) Sarika Srivastava et al.   HUMAN MOLECULAR GENETICS

A robust and high-throughput Cre reporting and characterization system for the whole mouse brain

(2009) Linda Madisen et al.   NATURE NEUROSCIENCE

Respiratory chain complex I deficiency in an infant with Ohtahara syndrome

(2008) Manuel Castro-Gago et al.   BRAIN & DEVELOPMENT

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