Associated Papers
Structural Analysis Implicates CASK-Liprin-α2 Interaction in Cerebellar Granular Cell Death in MICPCH Syndrome.
Guo Q et al.
Cells, 2023
Regulation of Liprin-α phase separation by CASK is disrupted by a mutation in its CaM kinase domain.
Tibbe D et al.
Life Science Alliance, 2022
A de novo variant in CASK gene causing intellectual disability and brain hypoplasia: a case report and literature review.
Zhang Y et al.
Italian Journal of Pediatrics, 2022
Missense mutations in CASK, coding for the calcium-/calmodulin-dependent serine protein kinase, interfere with neurexin binding and neurexin-induced oligomerization.
Pan YE et al.
Journal of Neurochemistry, 2021
CASK related disorder: Epilepsy and developmental outcome.
Giacomini T et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2021
Structural Basis for the High-Affinity Interaction between CASK and Mint1.
Wu X et al.
Structure (london, England : 1993), 2020
Two microcephaly-associated novel missense mutations in CASK specifically disrupt the CASK-neurexin interaction.
LaConte LEW et al.
Human Genetics, 2018
A novel CASK mutation identified in siblings exhibiting developmental disorders with/without microcephaly.
Seto T et al.
Intractable & Rare Diseases Research, 2017
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
Phenotypic and molecular insights into CASK-related disorders in males.
Moog U et al.
Orphanet Journal of Rare Diseases, 2015
Identification and glycerol-induced correction of misfolding mutations in the X-linked mental retardation gene CASK.
LaConte LE et al.
Plos One, 2014
Structural constraints and functional divergences in CASK evolution.
LaConte L et al.
Biochemical Society Transactions, 2013
A novel interaction between FRMD7 and CASK: evidence for a causal role in idiopathic infantile nystagmus.
Watkins RJ et al.
Human Molecular Genetics, 2013
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.
Burglen L et al.
Orphanet Journal of Rare Diseases, 2012
Novel intragenic duplications and mutations of CASK in patients with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH).
Hayashi S et al.
Human Genetics, 2012
Phenotypic spectrum associated with CASK loss-of-function mutations.
Moog U et al.
Journal of Medical Genetics, 2011
Liprin-mediated large signaling complex organization revealed by the liprin-α/CASK and liprin-α/liprin-β complex structures.
Wei Z et al.
Molecular Cell, 2011
CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes.
Hackett A et al.
European Journal of Human Genetics : Ejhg, 2010
Calcium/calmodulin-dependent serine protein kinase and mental retardation.
Hsueh YP
Annals of Neurology, 2009
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.
Tarpey PS et al.
Nature Genetics, 2009