Associated Papers
Organoids in Genetic Disorders: from Disease Modeling to Translational Applications.
Zhu Y et al.
Stem Cell Reviews and Reports, 2025
Separation-of-function MCPH-associated mutations in CPAP affect centriole number and length.
Jaiswal S et al.
Journal of Cell Science, 2023
A novel leaky splice variant in centromere protein J (CENPJ)-associated Seckel syndrome.
Yadav N et al.
Annals of Human Genetics, 2022
Modeling Human Primary Microcephaly With hiPSC-Derived Brain Organoids Carrying CPAP-E1235V Disease-Associated Mutant Protein.
An HL et al.
Frontiers in Cell and Developmental Biology, 2022
Time is of the essence: the molecular mechanisms of primary microcephaly.
Phan TP et al.
Genes & Development, 2021
Modifier Genes in Microcephaly: A Report on WDR62, CEP63, RAD50 and PCNT Variants Exacerbating Disease Caused by Biallelic Mutations of ASPM and CENPJ.
Makhdoom EUH et al.
Genes, 2021
An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan.
Rasool S et al.
Molecular Genetics & Genomic Medicine, 2020
Unusual context of CENPJ variants and primary microcephaly: compound heterozygosity and nonconsanguinity in an Argentinian patient.
Cueto-González AM et al.
Human Genome Variation, 2020
CPAP promotes timely cilium disassembly to maintain neural progenitor pool.
Gabriel E et al.
The Embo Journal, 2016
The centrosome duplication cycle in health and disease.
Nigg EA et al.
Febs Letters, 2014
Identifying novel oncogenes: a machine learning approach.
Kumar A et al.
Interdisciplinary Sciences, Computational Life Sciences, 2013
Structural analysis of the G-box domain of the microcephaly protein CPAP suggests a role in centriole architecture.
Hatzopoulos GN et al.
Structure (london, England : 1993), 2013
Crystal structures of the CPAP/STIL complex reveal its role in centriole assembly and human microcephaly.
Cottee MA et al.
Elife, 2013
Disruption of mouse Cenpj, a regulator of centriole biogenesis, phenocopies Seckel syndrome.
McIntyre RE et al.
Plos Genetics, 2012
Spindle positioning in human cells relies on proper centriole formation and on the microcephaly proteins CPAP and STIL.
Kitagawa D et al.
Journal of Cell Science, 2011
The human microcephaly protein STIL interacts with CPAP and is required for procentriole formation.
Tang CJ et al.
The Embo Journal, 2011
Novel CENPJ mutation causes Seckel syndrome.
Al-Dosari MS et al.
Journal of Medical Genetics, 2010
Functional characterization of the microtubule-binding and -destabilizing domains of CPAP and d-SAS-4.
Hsu WB et al.
Experimental Cell Research, 2008
What primary microcephaly can tell us about brain growth.
Cox J et al.
Trends in Molecular Medicine, 2006
A novel deletion mutation in CENPJ gene in a Pakistani family with autosomal recessive primary microcephaly.
Gul A et al.
Journal of Human Genetics, 2006
The first missense alteration in the MCPH1 gene causes autosomal recessive microcephaly with an extremely mild cellular and clinical phenotype.
Trimborn M et al.
Human Mutation, 2005
A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size.
Bond J et al.
Nature Genetics, 2005