Evidence map›Paper›PMID 36343267›Full record

ArticleProceedings of the National Academy of Sciences of the United States of America2022

KIF2A deficiency causes early-onset neurodegeneration.

Nuria Ruiz-Reig, Georges Chehade, Janne Hakanen, Mohamed Aittaleb, Keimpe Wierda, Joris De Wit, Laurent Nguyen, Philippe Gailly, Fadel Tissir

Open access · greenAbstract read
In one paragraph

Article in Proceedings of the National Academy of Sciences of the United States of America, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.

0numbers the graph read from it
0cells of the map it votes in
15citing papers in PubMed
2.2field-weighted citation impact, top 13% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

15 citing papers in PubMed, 20 citations in OpenAlex.

  1. Article
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  5. Article
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  7. Article
  8. Article
  9. Research progress of kinesin family in neurological diseases.Frontiers in cellular neuroscience · 2025
    Review
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  11. Article
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors at 4 institutions in 2 countries.

Nuria Ruiz-ReigLaboratory of Developmental Neurobiology, Institute of Neuroscience, Université catholique de Louvain, 1200 Brussels, Belgium.ORCID 0000-0001-7008-7920
Georges ChehadeLaboratory of Developmental Neurobiology, Institute of Neuroscience, Université catholique de Louvain, 1200 Brussels, Belgium.ORCID 0000-0001-5172-2378
Janne HakanenLaboratory of Developmental Neurobiology, Institute of Neuroscience, Université catholique de Louvain, 1200 Brussels, Belgium.
Mohamed AittalebCollege of Health and Life Sciences, Hamad Bin Khalifa University, 34110 Doha, Qatar.ORCID 0000-0002-4477-947X
Keimpe WierdaElectrophysiology Unit, VIB-KU Leuven Center for Brain & Disease Research, 3000 Leuven, Belgium.ORCID 0000-0002-8784-9490
Joris De WitVIB-KU Leuven Center for Brain & Disease Research, Department of Neurosciences, 3000 Leuven, Belgium.ORCID 0000-0003-1120-1089
Laurent NguyenLaboratory of Molecular Regulation of Neurogenesis, GIGA-Stem Cells, Interdisciplinary Cluster for Applied Genoproteomics, University of Liège, 4000 Liège, Belgium.
Philippe GaillyLaboratory of Cell Physiology, Institute of Neuroscience, Université catholique de Louvain, 1200 Brussels, Belgium.ORCID 0000-0002-9259-3813
Fadel TissirLaboratory of Developmental Neurobiology, Institute of Neuroscience, Université catholique de Louvain, 1200 Brussels, Belgium.ORCID 0000-0002-9292-6622
UCLouvain · BEHamad bin Khalifa University · QAVIB-KU Leuven Center for Brain & Disease Research · BEUniversity of Liège · BE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

KIF2A is an atypical kinesin that has the capacity to depolymerize microtubules. Patients carrying mutations in KIF2A suffer from progressive microcephaly and mental disabilities. While the role of this protein is well documented in neuronal migration, the relationship between its dysfunction and the pathobiology of brain disorders is unclear. Here, we report that KIF2A is dispensable for embryogenic neurogenesis but critical in postnatal stages for maturation, connectivity, and maintenance of neurons. We used a conditional approach to inactivate KIF2A in cortical progenitors, nascent postmitotic neurons, and mature neurons in mice. We show that the lack of KIF2A alters microtubule dynamics and disrupts several microtubule-dependent processes, including neuronal polarity, neuritogenesis, synaptogenesis, and axonal transport. KIF2A-deficient neurons exhibit aberrant electrophysiological characteristics, neuronal connectivity, and function, leading to their loss. The role of KIF2A is not limited to development, as fully mature neurons require KIF2A for survival. Our results emphasize an additional function of KIF2A and help explain how its mutations lead to brain disorders.

Indexed as

Brain DiseasesRepressor ProteinsAnimalsKinesinsMiceMicrotubulesNeuronsKIF2A protein, mouseKinesinsRepressor Proteinsbrain wiringneurodegenerationneurodevelopmentneuronal polarity

Identifiers

PMID36343267
PMCPMC9674219
OpenAlexW4308430531

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.