Genomics, convergent neuroscience and progress in understanding autism spectrum disorder

HR Willsey, AJ Willsey, B Wang… - Nature Reviews …, 2022 - nature.com
More than a hundred genes have been identified that, when disrupted, impart large risk for
autism spectrum disorder (ASD). Current knowledge about the encoded proteins—although …

Genetic insights into the neurodevelopmental origins of schizophrenia

R Birnbaum, DR Weinberger - Nature Reviews Neuroscience, 2017 - nature.com
Schizophrenia is a severe neuropsychiatric disorder with a longstanding history of
neurobiological investigation. Although the underlying causal mechanisms remain …

Transcriptome-wide isoform-level dysregulation in ASD, schizophrenia, and bipolar disorder

MJ Gandal, P Zhang, E Hadjimichael, RL Walker… - Science, 2018 - science.org
INTRODUCTION Our understanding of the pathophysiology of psychiatric disorders,
including autism spectrum disorder (ASD), schizophrenia (SCZ), and bipolar disorder (BD) …

Shared molecular neuropathology across major psychiatric disorders parallels polygenic overlap

MJ Gandal, JR Haney, NN Parikshak, V Leppa… - Science, 2018 - science.org
The predisposition to neuropsychiatric disease involves a complex, polygenic, and
pleiotropic genetic architecture. However, little is known about how genetic variants impart …

Truncated stathmin-2 is a marker of TDP-43 pathology in frontotemporal dementia

M Prudencio, J Humphrey, S Pickles… - The Journal of …, 2020 - Am Soc Clin Investig
No treatment for frontotemporal dementia (FTD), the second most common type of early-
onset dementia, is available, but therapeutics are being investigated to target the 2 main …

Developmental and genetic regulation of the human cortex transcriptome illuminate schizophrenia pathogenesis

AE Jaffe, RE Straub, JH Shin, R Tao, Y Gao… - Nature …, 2018 - nature.com
Genome-wide association studies have identified 108 schizophrenia risk loci, but biological
mechanisms for individual loci are largely unknown. Using developmental, genetic and …

Consistent gene signature of schizophrenia identified by a novel feature selection strategy from comprehensive sets of transcriptomic data

Q Yang, B Li, J Tang, X Cui, Y Wang, X Li… - Briefings in …, 2020 - academic.oup.com
The etiology of schizophrenia (SCZ) is regarded as one of the most fundamental puzzles in
current medical research, and its diagnosis is limited by the lack of objective molecular …

Protein-metabolite interactomics of carbohydrate metabolism reveal regulation of lactate dehydrogenase

KG Hicks, AA Cluntun, HL Schubert, SR Hackett… - Science, 2023 - science.org
Metabolic networks are interconnected and influence diverse cellular processes. The protein-
metabolite interactions that mediate these networks are frequently low affinity and …

The effects of death and post-mortem cold ischemia on human tissue transcriptomes

PG Ferreira, M Muñoz-Aguirre, F Reverter… - Nature …, 2018 - nature.com
Post-mortem tissues samples are a key resource for investigating patterns of gene
expression. However, the processes triggered by death and the post-mortem interval (PMI) …

Analysis of the caudate nucleus transcriptome in individuals with schizophrenia highlights effects of antipsychotics and new risk genes

KJM Benjamin, Q Chen, AE Jaffe, JM Stolz… - Nature …, 2022 - nature.com
Most studies of gene expression in the brains of individuals with schizophrenia have
focused on cortical regions, but subcortical nuclei such as the striatum are prominently …