ArticleNeurogenetics2012
Novel NDE1 homozygous mutation resulting in microhydranencephaly and not microlyssencephaly.
Article in Neurogenetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed, 44 citations in OpenAlex.
- Clinical Insights into the Neurodevelopmental Impact of 16p CNVs in an Italian Clinical Cohort.Genes · 2026Article
- Nde1 promotes Lis1 binding to full-length autoinhibited human dynein 1.Nature chemical biology · 2026Article
- Nde1 Promotes Lis1 Binding to Full-Length Autoinhibited Human Dynein-1.bioRxiv : the preprint server for biology · 2025Article
- Presynaptic perspective: Axonal transport defects in neurodevelopmental disorders.The Journal of cell biology · 2024Review
- Novel lissencephaly-associated NDEL1 variant reveals distinct roles of NDE1 and NDEL1 in nucleokinesis and human cortical malformations.Acta neuropathologica · 2024Article
- Conserved roles for the dynein intermediate chain and Ndel1 in assembly and activation of dynein.Nature communications · 2023Article
- Conserved Roles for the Dynein Intermediate Chain and Ndel1 in Assembly and Activation of Dynein.bioRxiv : the preprint server for biology · 2023Article
- Nde1 is required for heterochromatin compaction and stability in neocortical neurons.iScience · 2022Article
- Nde1 and Ndel1: Outstanding Mysteries in Dynein-Mediated Transport.Frontiers in cell and developmental biology · 2022Review
- Time is of the essence: the molecular mechanisms of primary microcephaly.Genes & development · 2021Review
- Prenatal diagnosis of fetal microhydranencephaly: a case report and literature review.BMC pregnancy and childbirth · 2020Review
- Role ofFrontiers in neuroscience · 2020Article
- Nde1 promotes diverse dynein functions through differential interactions and exhibits an isoform-specific proteasome association.Molecular biology of the cell · 2018Article
- Comprehensive genotype-phenotype correlation in lissencephaly.Quantitative imaging in medicine and surgery · 2018Review
- Severe congenital microcephaly with 16p13.11 microdeletion combined with NDE1 mutation, a case report and literature review.BMC medical genetics · 2017Review
- TheOpen biology · 2017Article
- NDE1 and NDEL1 from genes to (mal)functions: parallel but distinct roles impacting on neurodevelopmental disorders and psychiatric illness.Cellular and molecular life sciences : CMLS · 2017Review
- Human NDE1 splicing and mammalian brain development.Scientific reports · 2017Article
- Severe NDE1-mediated microcephaly results from neural progenitor cell cycle arrests at multiple specific stages.Nature communications · 2016Article
- Article
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Lissencephaly is characterized by deficient cortical lamination. Recently homozygous NDE1 mutations were reported in three kindred afflicted with extreme microcephaly with lissencephaly or microlissencephaly. Another severe developmental defect that involves the brain is microhydranencephaly which manifests with microcephaly, motor and mental retardation and brain malformations that include gross dilation of the ventricles with complete absence of the cerebral hemispheres or severe delay in their development. In the three related patients with microhydranencephaly that we had reported previously, we identified a homozygous deletion that encompasses NDE1 exon 2 containing the initiation codon. The mutation is predicted to result in a null allele. Herein we compare the clinical phenotypes of our research patients to those reported as microlissencephaly. The clinical findings in our patients having the fourth NDE1 mutation reported so far widen the spectrum of brain malformations resulting from mutations in NDE1.
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