Loss of tubulin deglutamylase CCP 1 causes infantile‐onset neurodegeneration

…, S Donkervoort, R Kaur, PS Ghosh, V Stanley… - The EMBO …, 2018 - embopress.org
A set of glutamylases and deglutamylases controls levels of tubulin polyglutamylation, a
prominent post‐translational modification of neuronal microtubules. Defective tubulin …

Somatic mosaicism reveals clonal distributions of neocortical development

…, D Antaki, AJ Lana, X Xu, C Chung, G Chai, V Stanley… - Nature, 2022 - nature.com
The structure of the human neocortex underlies species-specific traits and reflects intricate
developmental programs. Here we sought to reconstruct processes that occur during early …

[PDF][PDF] Zika virus protease cleavage of host protein septin-2 mediates mitotic defects in neural progenitors

…, L Yuan, D Ross, A Johansen, D Sands, V Stanley… - Neuron, 2019 - cell.com
Zika virus (ZIKV) targets neural progenitor cells in the brain, attenuates cell proliferation, and
leads to cell death. Here, we describe a role for the ZIKV protease NS2B-NS3 heterodimer …

[HTML][HTML] Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly

…, DEC Smith, MI Mendes, DY Chen, V Stanley… - Nature …, 2020 - nature.com
Asparaginyl-tRNA synthetase1 (NARS1) is a member of the ubiquitously expressed cytoplasmic
Class IIa family of tRNA synthetases required for protein translation. Here, we identify …

[PDF][PDF] Biallelic mutations in ADPRHL2, encoding ADP-ribosylhydrolase 3, lead to a degenerative pediatric stress-induced epileptic ataxia syndrome

…, Q Waisfisz, H Wang, KK Vaux, V Stanley… - The American Journal of …, 2018 - cell.com
ADP-ribosylation, the addition of poly-ADP ribose (PAR) onto proteins, is a response signal
to cellular challenges, such as excitotoxicity or oxidative stress. This process is catalyzed by …

Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration

…, BA Barshop, B Kara, R Wang, V Stanley… - Nature …, 2018 - nature.com
Neuronal migration defects, including pachygyria, are among the most severe developmental
brain defects in humans. Here, we identify biallelic truncating mutations in CTNNA2, …

[PDF][PDF] Developmental and temporal characteristics of clonal sperm mosaicism

…, MW Breuss, X Xu, D Antaki, KN James, V Stanley… - Cell, 2021 - cell.com
Throughout development and aging, human cells accumulate mutations resulting in genomic
mosaicism and genetic diversity at the cellular level. Mosaic mutations present in the …

[HTML][HTML] A human pleiotropic multiorgan condition caused by deficient Wnt secretion

…, X Yang, J McEvoy-Venneri, V Stanley… - … England Journal of …, 2021 - Mass Medical Soc
Background Structural birth defects occur in approximately 3% of live births; most such defects
lack defined genetic or environmental causes. Despite advances in surgical approaches, …

[HTML][HTML] Biallelic variants in KIF14 cause intellectual disability with microcephaly

…, J McEvoy-Venneri, KN James, V Stanley… - European journal of …, 2018 - nature.com
Kinesin proteins are critical for various cellular functions such as intracellular transport and
cell division, and many members of the family have been linked to monogenic disorders and …

Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development

…, J Gu, M Xu, C Barrows, KN James, V Stanley… - Nature …, 2023 - nature.com
Malformations of cortical development (MCD) are neurological conditions involving focal
disruptions of cortical architecture and cellular organization that arise during embryogenesis, …