Article

Mutations of schizophrenia risk gene <i>SETD1A</i> dysregulate synaptic function in human neurons

2024-10-20

Abstract excerpt

Schizophrenia (SCZ) is a complex neuropsychiatric disorder associated with both common risk variants of small effect sizes and rare risk variants of high penetrance. Rare protein truncating variants (PTVs) in SETD1A (SET Domain Containing 1A) show a strong association with SCZ; however, it remains largely unclear how rare PTVs in SETD1A contribute to the pathophysiology of SCZ. To understand the impact of SETD1...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 6c265ba0-69ee-5650-9388-3568f2c1033e
DOI: 10.1101/2024.10.20.619313

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Mutations of schizophrenia risk gene <i>SETD1A</i> dysregulate synaptic function in human neuronsDOI 10.1101/2024.10.20.619313Read

Mutations of schizophrenia risk gene SETD1A dysregulate synaptic function in human neurons.Semantic proximity Read

Probing the biological consequences of a previously undescribed de novo mutation of ZMYND11 in a schizophrenia patient by CRISPR genome editing and induced pluripotent stem cell based in vitro disease-modeling.Semantic proximity Read

Setd1a Insufficiency in Mice Attenuates Excitatory Synaptic Function and Recapitulates Schizophrenia-Related Behavioral Abnormalities.Semantic proximity Read

Loss-of-function of <i>OTUD7A</i> in the schizophrenia-associated 15q13.3 deletion impairs synapse development and function in human neuronsSemantic proximity Read

Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders.Semantic proximity Read

Loss-of-function variants in the schizophrenia risk gene <i>SETD1A</i> alter neuronal network activity in human neurons through cAMP/PKA pathwaySemantic proximity Read

SETD1A variant-associated psychosis: A systematic review of the clinical literature and description of two new cases.Semantic proximity Read

Clinical, cellular, and genomic consequences of a population-enriched SETD1A missense variantSemantic proximity Read

Schizophrenia-associated <i>NRXN1</i> deletions induce developmental-timing- and cell-type-specific vulnerabilities in human brain organoidsSemantic proximity Read

A Functional Schizophrenia-associated genetic variant near the <i>TSNARE1</i> and <i>ADGRB1</i> genesSemantic proximity Read

The molecular pathology of schizophrenia: an overview of existing knowledge and new directions for future research.Semantic proximity Read

Scaled and efficient derivation of loss-of-function alleles in risk genes for neurodevelopmental and psychiatric disorders in human iPSCs.Semantic proximity Read