Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected] (Q34181137)

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30 January 2020

title

Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected] (English)

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30 January 2020

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0 references

1

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Mohammed M Jan

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30 January 2020

Ganeshwaran H Mochida

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object named as

Ganeshwaran H Mochida

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Christopher A Walsh

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Ranad Shaheen

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Brenda J Barry

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Jillian M Felie

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Jennifer N Partlow

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author name string

Xuyu Cai

2

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Carina Emery

3

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Mohammed S Al-Dosari

5

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R Sean Hill

7

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Generoso G Gascon

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Amal Kentab

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Yuanyi Feng

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language of work or name

English

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publication date

28 April 2011

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American Journal of Human Genetics

30 January 2020

published in

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volume

88

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page(s)

536-547

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issue

5

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The essential role of centrosomal NDE1 in human cerebral cortex neurogenesis

30 January 2020

cites work

1 reference

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WDR62 is associated with the spindle pole and is mutated in human microcephaly

5 July 2018

1 reference

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Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture

5 July 2018

1 reference

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Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations

5 July 2018

1 reference

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Lissencephaly: mechanistic insights from animal models and potential therapeutic strategies

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146728

LIS1 and NudE induce a persistent dynein force-producing state

5 July 2018

1 reference

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Functional interplay between LIS1, NDE1 and NDEL1 in dynein-dependent organelle positioning.

5 July 2018

1 reference

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Primary microcephaly: do all roads lead to Rome?

5 July 2018

1 reference

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LIS1 and NDEL1 coordinate the plus-end-directed transport of cytoplasmic dynein.

5 July 2018

1 reference

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A quantitative atlas of mitotic phosphorylation

5 July 2018

1 reference

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Lis1-Nde1-dependent neuronal fate control determines cerebral cortical size and lamination

5 July 2018

1 reference

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The structure of the coiled-coil domain of Ndel1 and the basis of its interaction with Lis1, the causal protein of Miller-Dieker lissencephaly

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146728

Lissencephaly and LIS1: insights into the molecular mechanisms of neuronal migration and development

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146728

NudE and NudEL are required for mitotic progression and are involved in dynein recruitment to kinetochores

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146728

Cenp-F links kinetochores to Ndel1/Nde1/Lis1/dynein microtubule motor complexes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146728

Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A).

5 July 2018

1 reference

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NDEL1 phosphorylation by Aurora-A kinase is essential for centrosomal maturation, separation, and TACC3 recruitment

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146728

Centrosomal proteins Nde1 and Su48 form a complex regulated by phosphorylation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146728

Recruitment of katanin p60 by phosphorylated NDEL1, an LIS1 interacting protein, is essential for mitotic cell division and neuronal migration

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146728

Complete loss of Ndel1 results in neuronal migration defects and early embryonic lethality

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146728

A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size

5 July 2018

1 reference

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Mitotic spindle regulation by Nde1 controls cerebral cortical size

5 July 2018

1 reference

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Human Nudel and NudE as regulators of cytoplasmic dynein in poleward protein transport along the mitotic spindle

5 July 2018

1 reference

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ASPM is a major determinant of cerebral cortical size

5 July 2018

1 reference

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A motif-based profile scanning approach for genome-wide prediction of signaling pathways

5 July 2018

1 reference

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NUDEL is a novel Cdk5 substrate that associates with LIS1 and cytoplasmic dynein

5 July 2018

1 reference

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A LIS1/NUDEL/cytoplasmic dynein heavy chain complex in the developing and adult nervous system

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146728

LIS1 regulates CNS lamination by interacting with mNudE, a central component of the centrosome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146728

Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations

5 July 2018

1 reference

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5 July 2018

1 reference

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Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146728

Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13.

5 July 2018

1 reference

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Syndromes with lissencephaly. I: Miller-Dieker and Norman-Roberts syndromes and isolated lissencephaly

5 July 2018

1 reference

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5 July 2018

1 reference

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The NDE1 gene is disrupted by the inv(16) in 90% of cases with CBFB-MYH11-positive acute myeloid leukemia.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146728

Neuroepithelial stem cell proliferation requires LIS1 for precise spindle orientation and symmetric division.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146728

Primary microcephaly with ASPM mutation shows simplified cortical gyration with antero-posterior gradient pre- and post-natally

28 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21529751

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Ndel1 operates in a common pathway with LIS1 and cytoplasmic dynein to regulate cortical neuronal positioning

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21529751

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2011.04.003

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21529751%20AND%20SRC:MED&resulttype=core&format=json

30 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21529751%20AND%20SRC:MED&resulttype=core&format=json

30 January 2020

1 reference