Mutations in Vps15 perturb neuronal migration in mice and are associated with neurodevelopmental disease in humans.

doi:10.1038/s41593-017-0053-5

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

Community

Back to search

Article

Mutations in Vps15 perturb neuronal migration in mice and are associated with neurodevelopmental disease in humans.

Nature neuroscience - 1 Feb 2018

Gstrein Thomas, Edwards Andrew, Přistoupilová Anna, Leca Ines, Breuss Martin, Pilat-Carotta Sandra, Hansen Andi H, Tripathy Ratna, Traunbauer Anna K, Hochstoeger Tobias, Rosoklija Gavril, Repic Marco, Landler Lukas, Stránecký Viktor, Dürnberger Gerhard, Keane Thomas M, Zuber Johannes, Adams David J, Flint Jonathan, Honzik Tomas, Gut Marta, Beltran Sergi, Mechtler Karl, Sherr Elliott, Kmoch Stanislav, Gut Ivo, Keays David A

Abstract excerpt

The formation of the vertebrate brain requires the generation, migration, differentiation and survival of neurons. Genetic mutations that perturb these critical cellular events can result in malformations of the telencephalon, providing a molecular window into brain development. Here we report the identification of an N-ethyl-N-nitrosourea-induced mouse mutant characterized by a fractured hippocampal pyramidal...

Read the complete abstract on PubMed

Topics

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

Share to Alkylating Agents

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Animals, Newborn

Share to Atrophy

Share to Autophagy

Share to Embryo, Mammalian

Share to Ethylnitrosourea

Share to Neurodevelopmental Disorders

Share to Vacuolar Proton-Translocating ATPases

Source

Open in PubMed Open full text

Identifiers

PMID: 29311744
DOI: 10.1038/s41593-017-0053-5
PMCID: PMC5897053

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations in Vps15 perturb neuronal migration in mice and are associated with neurodevelopmental disease in humans.PMID 29311744Read ↗

<i>PEA15</i> loss of function and defective cerebral development in the domestic catSemantic proximity Read ↗

Loss of Neuron Navigator 2 Impairs Brain and Cerebellar DevelopmentSemantic proximity Read ↗

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

Characterization of Vps13b-mutant mice reveals neuroanatomical and behavioral phenotypes with females less affected.Semantic proximity Read ↗

Coupling of terminal differentiation deficit with neurodegenerative pathology in Vps35-deficient pyramidal neuronsSemantic proximity Read ↗

Nav2 hypomorphic mutant mice are ataxic and exhibit abnormalities in cerebellar development.Semantic proximity Read ↗

Mutations in alpha-tubulin cause abnormal neuronal migration in mice and lissencephaly in humans.Semantic proximity Read ↗

Vps54 regulates <i>Drosophila</i> neuromuscular junction development and controls postsynaptic density composition via a Rab7-dependent mechanismSemantic proximity Read ↗

Neuronal VPS35 deletion induces spinal cord motor neuron degeneration and early post-natal lethalitySemantic proximity Read ↗

Potential mechanisms of mutations that affect neuronal migration in man and mouse.Semantic proximity Read ↗

Analysis of Brain, Blood, and Testis Phenotypes Lacking the Vps13a Gene in C57BL/6N Mice.Semantic proximity Read ↗

Cortical neuronal migration mutants suggest separate but intersecting pathways.Semantic proximity Read ↗

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