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 …
prominent post‐translational modification of neuronal microtubules. Defective tubulin …
Somatic mosaicism reveals clonal distributions of neocortical development
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 …
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 …
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 …
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
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 …
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, …
brain defects in humans. Here, we identify biallelic truncating mutations in CTNNA2, …
[PDF][PDF] Developmental and temporal characteristics of clonal sperm mosaicism
Throughout development and aging, human cells accumulate mutations resulting in genomic
mosaicism and genetic diversity at the cellular level. Mosaic mutations present in the …
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, …
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 …
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, …
disruptions of cortical architecture and cellular organization that arise during embryogenesis, …