Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes

X Zhou, P Feliciano, C Shu, T Wang, I Astrovskaya… - Nature …, 2022 - nature.com
To capture the full spectrum of genetic risk for autism, we performed a two-stage analysis of
rare de novo and inherited coding variants in 42,607 autism cases, including 35,130 new …

Hierarchy of transcriptomic specialization across human cortex captured by structural neuroimaging topography

JB Burt, M Demirtaş, WJ Eckner, NM Navejar, JL Ji… - Nature …, 2018 - nature.com
Hierarchy provides a unifying principle for the macroscale organization of anatomical and
functional properties across primate cortex, yet microscale bases of specialization across …

Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia

G Genovese, M Fromer, EA Stahl, DM Ruderfer… - Nature …, 2016 - nature.com
By analyzing the exomes of 12,332 unrelated Swedish individuals, including 4,877
individuals affected with schizophrenia, in ways informed by exome sequences from 45,376 …

Novel Alzheimer risk genes determine the microglia response to amyloid‐β but not to TAU pathology

A Sierksma, A Lu, R Mancuso, N Fattorelli… - EMBO molecular …, 2020 - embopress.org
Polygenic risk scores have identified that genetic variants without genome‐wide significance
still add to the genetic risk of developing Alzheimer's disease (AD). Whether and how …

Locus coeruleus and dopamine‐dependent memory consolidation

M Yamasaki, T Takeuchi - Neural plasticity, 2017 - Wiley Online Library
Most everyday memories including many episodic‐like memories that we may form
automatically in the hippocampus (HPC) are forgotten, while some of them are retained for a …

A comprehensive transcriptional map of primate brain development

TE Bakken, JA Miller, SL Ding, SM Sunkin, KA Smith… - Nature, 2016 - nature.com
The transcriptional underpinnings of brain development remain poorly understood,
particularly in humans and closely related non-human primates. We describe a high …

Proteomics of the synapse–a quantitative approach to neuronal plasticity

DC Dieterich, MR Kreutz - Molecular & Cellular Proteomics, 2016 - ASBMB
The advances in mass spectrometry based proteomics in the past 15 years have contributed
to a deeper appreciation of protein networks and the composition of functional synaptic …

Proteomic analysis of unbounded cellular compartments: synaptic clefts

KH Loh, PS Stawski, AS Draycott, ND Udeshi… - Cell, 2016 - cell.com
Cellular compartments that cannot be biochemically isolated are challenging to
characterize. Here we demonstrate the proteomic characterization of the synaptic clefts that …

Precisely measured protein lifetimes in the mouse brain reveal differences across tissues and subcellular fractions

EF Fornasiero, S Mandad, H Wildhagen… - Nature …, 2018 - nature.com
The turnover of brain proteins is critical for organism survival, and its perturbations are linked
to pathology. Nevertheless, protein lifetimes have been difficult to obtain in vivo. They are …

Global transcriptional and translational repression in human-embryonic-stem-cell-derived Rett syndrome neurons

Y Li, H Wang, J Muffat, AW Cheng, DA Orlando… - Cell stem cell, 2013 - cell.com
Rett syndrome (RTT) is caused by mutations of MECP2, a methyl CpG binding protein
thought to act as a global transcriptional repressor. Here we show, using an isogenic human …