[HTML][HTML] Lipolysis: cellular mechanisms for lipid mobilization from fat stores

GF Grabner, H Xie, M Schweiger, R Zechner - Nature metabolism, 2021 - nature.com
The perception that intracellular lipolysis is a straightforward process that releases fatty
acids from fat stores in adipose tissue to generate energy has experienced major revisions …

Genetic contributions to autism spectrum disorder

A Havdahl, M Niarchou, A Starnawska… - Psychological …, 2021 - cambridge.org
Autism spectrum disorder (autism) is a heterogeneous group of neurodevelopmental
conditions characterized by early childhood-onset impairments in communication and social …

Molecular and network-level mechanisms explaining individual differences in autism spectrum disorder

AM Buch, PE Vértes, J Seidlitz, SH Kim… - Nature …, 2023 - nature.com
The mechanisms underlying phenotypic heterogeneity in autism spectrum disorder (ASD)
are not well understood. Using a large neuroimaging dataset, we identified three latent …

Identification of shared and differentiating genetic architecture for autism spectrum disorder, attention-deficit hyperactivity disorder and case subgroups

M Mattheisen, J Grove, TD Als, J Martin, G Voloudakis… - Nature …, 2022 - nature.com
Attention-deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) are
highly heritable neurodevelopmental conditions, with considerable overlap in their genetic …

New insights from the last decade of research in psychiatric genetics: discoveries, challenges and clinical implications

OA Andreassen, GFL Hindley, O Frei… - World …, 2023 - Wiley Online Library
Psychiatric genetics has made substantial progress in the last decade, providing new
insights into the genetic etiology of psychiatric disorders, and paving the way for precision …

[PDF][PDF] Can the “female protective effect” liability threshold model explain sex differences in autism spectrum disorder?

JD Dougherty, N Marrus, SE Maloney, B Yip, S Sandin… - Neuron, 2022 - cell.com
Male sex is a strong risk factor for autism spectrum disorder (ASD). The leading theory for a"
female protective effect"(FPE) envisions males and females have" differing thresholds" …

[PDF][PDF] Brain-trait-associated variants impact cell-type-specific gene regulation during neurogenesis

N Aygün, AL Elwell, D Liang, MJ Lafferty… - The American Journal of …, 2021 - cell.com
Interpretation of the function of non-coding risk loci for neuropsychiatric disorders and brain-
relevant traits via gene expression and alternative splicing quantitative trait locus (e/sQTL) …

[HTML][HTML] The landscape of GWAS validation; systematic review identifying 309 validated non-coding variants across 130 human diseases

AJ Alsheikh, S Wollenhaupt, EA King, J Reeb… - BMC medical …, 2022 - Springer
Background The remarkable growth of genome-wide association studies (GWAS) has
created a critical need to experimentally validate the disease-associated variants, 90% of …

[HTML][HTML] Focus on your locus with a massively parallel reporter assay

JC McAfee, JL Bell, O Krupa, N Matoba… - Journal of …, 2022 - Springer
A growing number of variants associated with risk for neurodevelopmental disorders have
been identified by genome-wide association and whole genome sequencing studies. As …

The DDHD2-STXBP1 interaction mediates long-term memory via generation of saturated free fatty acids

IO Akefe, SH Saber, B Matthews, BG Venkatesh… - The EMBO …, 2024 - embopress.org
The phospholipid and free fatty acid (FFA) composition of neuronal membranes plays a
crucial role in learning and memory, but the mechanisms through which neuronal activity …