The previously uncharacterized protein PPP1R35 is a novel centriolar luminal protein critical for centriole elongation by acting in a complex with microcephaly protein RTTN.

Microcephaly-associated mutations disrupt microtubule-dependent WDR62 translocation from the Golgi complex to the mitotic spindle poles, impair mitotic progression, and alter neurogenic trajectories in patient induced Pluripotent Stem Cell-derived 2D and 3D models of human neurodevelopment.

It is shown that the absence of the centrosome protein ninein provokes premature ossification during mouse development, due to a defect in the fusion of precursor cells into syncytial osteoclasts.

Building on previous work (Guarani et al., 2015), MICOS (mitochondrial contact site) assembly and cristae junction formation are shown to have a critical role in human health.

Analysis of adenylosuccinate lyase (ADSL) deficiency in multiple experimental systems reveals cell and organismal phenotypes and impaired neurodevelopment due to the attenuation of ADSL's roles in distinct pathways.

Successful autism spectrum disorder gene discovery using forward genetics identifies KDM5A, which encodes a histone H3 lysine 4 demethylase, as a disease gene.

That early cortical neural progenitor divisions strictly require OCLN isoform expression is a paradigm shift in the functional consideration of this protein best known for promoting between-cell barrier functions.

Structural analyses of the centriole proteins CPAP and STIL identify domains that are critical for centriole formation and provide a structural explanation for a mutation that causes human microcephaly.

A comprehensive platform is established for the evaluation of both current and future individuals afflicted with the UBA5-associated developmental and epileptic encephalopathy.

Newly discovered interaction between fission yeast SPB and animal centriole components reveals that pericentrin not only functions as a microtubule-nucleator, but also promotes centriole assembly in animals.