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Our results show how evolutionary changes in cis as well as trans acting signals have played a fundamental role in determining NDE1 species specific splicing isoforms supporting the notion that alternative splicing plays a central role in human genome evolution, and possibly human cognitive predominance.
the severity of NDE1-associated microcephaly results not from defects in mitosis, but rather the inability of neural progenitors to ever reach this stage
Variation at the NDE1 locus may alter risk of mental illness, in part through modification of miR-484. NDE1 SNP rs2242549 associates with significant changes in gene expression of DISC1 network.
NDE1/Lissencephaly 1 and dynactin complexes separately mediate two key components of T cell-focused secretion, namely translocation of the MTOC and lytic granules to the IS, respectively.
Results indicate that the NAGK-dynein interaction with the involvements of Lis1 and NudE1 plays an important role in prophase nuclear envelope breakdown (NEB) and metaphase MT-KT attachment during eukaryotic cell division.
Promoter system of NDE1, which produces three distinct transcripts, each encoding for the same full-length NDE1 protein (also known as NudE), was cloned and tested in human cell lines; results highlight and clone the promoter elements required to generate systems in which the NDE1 protein is exogenously expressed under its native promoter, providing a biologically relevant model of 16p13.11 duplication in mental illness
Interaction between NDE1 and high birth weight was associated with increased susceptibility to schizophrenia.
study strengthens the evidence for association between rare variants within NDE1 and schizophrenia, and may shed light into the molecular mechanisms underlying this severe psychiatric disorder.
These data show that cell cycle-dependent mechanisms can control ciliary length through a CDK5-FBW7-NDE1 pathway.
study provided comprehensive documentation of the expression patterns of Nde1 and Ndel1 in cultured cells as well as in mouse and human brains, and also highlighting that dosage effects of these two proteins might contribute to some cases of mental disorder
Description of a severe microcephaly syndrome where an autosomal recessive condition combines an inherited segmental duplication mediated deletion with a mutation in the NDE1 gene within the non-deleted homolog.
In three related patients with microhydranencephaly, a homozygous deletion that encompasses NDE1 exon 2 containing the initiation codon was identified.
analysis of mixed NDE1-NDEL1 complexes demonstrates that NDE1 and NDEL1 can interact directly.
Mutually exclusive cytoplasmic dynein regulation by NudE-Lis1 and dynactin.
NDE1 mutations cause a severe microlissencephaly syndrome. Patient's NDE1 proteins are unstable, cannot bind cytoplasmic dynein, and do not localize properly to the centrosome.
NDE1 deficiency causes both a severe failure of neurogenesis and a deficiency in cortical lamination
The NDE1 gene is disrupted by the inv(16) in 90% of cases with CBFB-MYH11-positive acute myeloid leukemia.
NDE1 and NDEL1 act upstream of LIS1 in dynein recruitment, and/or activation, on the membrane.
LIS1 deficiency adversely affects the migration and differentiation of DCX- and Reelin-positive neurons.
study of the properties of NudE in mitosis; comparative studies suggest that NudE is functionally related to its paralog, Nudel
This gene encodes a member of the nuclear distribution E (NudE) family of proteins. The encoded protein is localized at the centrosome and interacts with other centrosome components as part of a multiprotein complex that regulates dynein function. This protein plays an essential role in microtubule organization, mitosis and neuronal migration. Mutations in this gene cause lissencephaly 4, a disorder characterized by lissencephaly, severe brain atrophy, microcephaly, and severe mental retardation. Alternative splicing results in multiple transcript variants.
LIS1-interacting protein NUDE1, rat homolog
, nuclear distribution protein nudE homolog 1
, nudE nuclear distribution E homolog 1
, nudE nuclear distribution gene E homolog 1