Browse the search results

Aneuploidy can cause chromosome mis-segregation and specific cellular phenotypes driven by expression of genes on the extra chromosome.

Centriolar satellites facilitate efficient trafficking of proteins to and from centrioles and are required for early steps of cilia formation and timely ciliogenesis in vivo, where mice lacking satellites display perinatal lethality, hydrocephalus, oligospermia, and cerebellar hypoplasia.

Extensive periodic regulation of alternative splicing during the cell cycle in genes is linked to cell cycle functions, and involves an auto-inhibitory mechanism that uses the protein kinase CLK1.

Measurement of the effect of all single-codon variants of the AAV2 rep gene on recombinant adeno-associated virus production identifies novel beneficial variants, which may facilitate improvement of gene therapy production.

Ciliogenesis is regulated by a certain group of centriolar satellite proteins, among which an E3 ligase is tethered by PCM1 to maintain the normal level of pro-ciliogenic protein on centrioles.

To control centriole duplication, centriolar satellite proteins assemble a microcephaly-associated protein complex at the centrosome and activate cyclin-dependent kinase 2.

Analysis of mutant cells combined with biochemical experiments reveals that CEP78 is recruited to the centrosome by CEP350 and regulates ciliogenesis and ciliary length control through CP110-dependent and CP110-independent mechanisms, respectively.

Study of human, knockout mice, and in-vitro models revealed CEP78 absence is the genetical cause of cone-rod dystrophy and male infertility with multiple morphological abnormalities of sperm flagella, CEP78 interacted with IFT20 and TTC21A to modulate cilliogenesis and centriole length.