Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A truncating Aspm allele leads to a complex cognitive phenotype and region-specific reductions in parvalbuminergic neurons.

Translational psychiatry - 13 Feb 2020

Garrett Lillian, Chang Yoon Jeung, Niedermeier Kristina M, Heermann Tamara, Enard Wolfgang, Fuchs Helmut, Gailus-Durner Valerie, Angelis Martin Hrabě de, Huttner Wieland B, Wurst Wolfgang, Hölter Sabine M

Abstract excerpt

Neurodevelopmental disorders are heterogeneous and identifying shared genetic aetiologies and converging signalling pathways affected could improve disease diagnosis and treatment. Truncating mutations of the abnormal spindle-like microcephaly associated (ASPM) gene cause autosomal recessive primary microcephaly (MCPH) in humans. ASPM is a positive regulator of Wnt/β-Catenin signalling and controls symmetric to...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Alleles
Share to Autism Spectrum Disorder

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Calmodulin-Binding Proteins

Share to Cognition

Share to Nerve Tissue Proteins

Share to Neurons

Share to Phenotype

Source

Open in PubMed Open full text

Identifiers

PMID: 32066665
DOI: 10.1038/s41398-020-0686-0
PMCID: PMC7026184

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A truncating Aspm allele leads to a complex cognitive phenotype and region-specific reductions in parvalbuminergic neurons.PMID 32066665Read ↗

Autism-associated <i>ASPM</i> variant causes macrocephaly and social-cognitive deficits in miceSemantic proximity Read ↗

Mutations in mouse Aspm (abnormal spindle-like microcephaly associated) cause not only microcephaly but also major defects in the germline.Semantic proximity Read ↗

Abnormal spindle-like microcephaly-associated (ASPM) mutations strongly disrupt neocortical structure but spare the hippocampus and long-term memory.Semantic proximity Read ↗

Rare mutations implicate CGE interneurons as a vulnerable axis of cognitive deficits across psychiatric disordersSemantic proximity Read ↗

The neurodevelopmental transcriptome of the <i>Drosophila melanogaster</i> microcephaly gene <i>abnormal spindle</i> reveals a role for temporal transcription factors and the immune system in regulating brain sizeSemantic proximity Read ↗

Autosomal recessive primary microcephaly due to ASPM mutations: An update.Semantic proximity Read ↗

The microcephaly protein Abnormal Spindle has an essential role in symmetrically dividing neural precursors to promote brain growth and developmentSemantic proximity Read ↗

16p11.2 Microduplication is Associated with Lobule-Specific Abnormalities in Cerebellar Structure and FunctionSemantic proximity Read ↗

De novo variants in MPP5 cause global developmental delay and behavioral changes.Semantic proximity Read ↗

Pyramidal neurons form active, transient, multilayered circuits perturbed by autism-associated mutations at the inception of neocortex.Semantic proximity Read ↗

Mutations in abnormal spindle disrupt temporal transcription factor expression and trigger immune responses in the Drosophila brain.Semantic proximity Read ↗

Whole-brain clearing reveals region- and cell type-specific imbalances in inhibitory neurons in a mouse model for Kleefstra SyndromeSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.