Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitors (Q37257945)

19 August 2017

Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitors (English)

1 reference

Katanin p80 (WD repeat containing) subunit B 1

19 August 2017

1 reference

GOA release 2020-03-11

1 reference

19 August 2017

Hülya Kayserili

0 references

Fernando Vonhoff

0 references

Ashleigh E Schaffer

0 references

Emily G Spencer

0 references

Maha S Zaki

0 references

Katsuhito Yasuno

0 references

Joseph G Gleeson

1 reference

19 August 2017

Ketu Mishra-Gorur

1 reference

19 August 2017

Ahmet Okay Çağlayan

1 reference

19 August 2017

Chiswili Chabu

1 reference

19 August 2017

Octavian Henegariu

1 reference

19 August 2017

Gözde Tuğce Akgümüş

1 reference

19 August 2017

Sayoko Nishimura

1 reference

19 August 2017

Wenqi Han

1 reference

19 August 2017

Shu Tu

1 reference

19 August 2017

Burçin Baran

1 reference

19 August 2017

Hakan Gümüş

1 reference

19 August 2017

Cengiz Dilber

1 reference

19 August 2017

Heba A A Hossni

1 reference

19 August 2017

Jean-Baptiste Rivière

1 reference

19 August 2017

Rasim Ö Rosti

1 reference

19 August 2017

Jana Schroth

1 reference

19 August 2017

Hüseyin Per

1 reference

19 August 2017

Caner Çağlar

1 reference

19 August 2017

Çağri Çağlar

1 reference

19 August 2017

Duygu Dölen

1 reference

19 August 2017

Jacob F Baranoski

1 reference

19 August 2017

Sefer Kumandaş

1 reference

19 August 2017

Frank J Minja

1 reference

19 August 2017

E Zeynep Erson-Omay

1 reference

19 August 2017

Shrikant M Mane

1 reference

19 August 2017

Richard P Lifton

1 reference

19 August 2017

Tian Xu

1 reference

19 August 2017

Haig Keshishian

1 reference

19 August 2017

Neil C Chi

1 reference

19 August 2017

Nenad Šestan

1 reference

19 August 2017

Angeliki Louvi

1 reference

19 August 2017

Kaya Bilgüvar

1 reference

19 August 2017

Murat Günel

1 reference

19 August 2017

language of work or name

English

0 references

publication date

1 December 2014

1 reference

19 August 2017

1 reference

19 August 2017

1 reference

19 August 2017

1 reference

19 August 2017

1226-1239

1 reference

Models, Regulations, and Functions of Microtubule Severing by Katanin

19 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5024344

Katanin p80 regulates human cortical development by limiting centriole and cilia number

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5024344

A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5024344

Microtubule-based transport - basic mechanisms, traffic rules and role in neurological pathogenesis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5024344

Drosophila neuroblasts: a model for stem cell biology

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5024344

Katanin p60-like1 promotes microtubule growth and terminal dendrite stability in the larval class IV sensory neurons of Drosophila

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5024344

An essential role for katanin p80 and microtubule severing in male gamete production

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5024344

A developmental and genetic classification for malformations of cortical development: update 2012

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5024344

Drosophila as a model for MECP2 gain of function in neurons

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5024344

Spatio-temporal transcriptome of the human brain

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5024344

Centrosomes and cilia in human disease.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5024344

Recessive LAMC3 mutations cause malformations of occipital cortical development

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5024344

The essential role of centrosomal NDE1 in human cerebral cortex neurogenesis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5024344

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5024344

Regulating the balance between symmetric and asymmetric stem cell division in the developing brain

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5024344

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5024344

TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5024344

Tiling among stereotyped dendritic branches in an identified Drosophila motoneuron

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5024344

Branching out: mechanisms of dendritic arborization

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5024344

Systematic image-driven analysis of the spatial Drosophila embryonic expression landscape

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5024344

Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5024344

Many roads lead to primary autosomal recessive microcephaly

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5024344

Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5024344

Primary microcephaly: do all roads lead to Rome?

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5024344

Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5024344

Lis1/dynactin regulates metaphase spindle orientation in Drosophila neuroblasts

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5024344

The microtubule-severing proteins spastin and katanin participate differently in the formation of axonal branches

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5024344

Katanin regulates dynamics of microtubules and biogenesis of motile cilia.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5024344

The zebra fish cassiopeia mutant reveals that SIL is required for mitotic spindle organization

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5024344

Using FlyAtlas to identify better Drosophila melanogaster models of human disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5024344

Three microtubule severing enzymes contribute to the "Pacman-flux" machinery that moves chromosomes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5024344

Regulation of spindle orientation and neural stem cell fate in the Drosophila optic lobe

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5024344

Katanin controls mitotic and meiotic spindle length

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5024344

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5024344

Live imaging of Drosophila brain neuroblasts reveals a role for Lis1/dynactin in spindle assembly and mitotic checkpoint control

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5024344

A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5024344

Axonal growth is sensitive to the levels of katanin, a protein that severs microtubules

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5024344

Lis1 and doublecortin function with dynein to mediate coupling of the nucleus to the centrosome in neuronal migration

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5024344

The drosophila protein asp is involved in microtubule organization during spindle formation and cytokinesis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5024344

Dendritic anomalies in disorders associated with mental retardation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5024344

Flying through the drosophila cytoskeletal genome.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5024344

Two domains of p80 katanin regulate microtubule severing and spindle pole targeting by p60 katanin

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5024344

Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5024344

The SIL gene is required for mouse embryonic axial development and left-right specification

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5024344

An essential role for katanin in severing microtubules in the neuron

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5024344

Katanin, a microtubule-severing protein, is a novel AAA ATPase that targets to the centrosome using a WD40-containing subunit

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5024344

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5024344

The Drosophila gene abnormal spindle encodes a novel microtubule-associated protein that associates with the polar regions of the mitotic spindle

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5024344

Analysis of genetic mosaics in developing and adult Drosophila tissues

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5024344

Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5024344

Identification of katanin, an ATPase that severs and disassembles stable microtubules

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5024344

The Snail family member Worniu is continuously required in neuroblasts to prevent Elav-induced premature differentiation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5024344

MicroRNA processing pathway regulates olfactory neuron morphogenesis

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5024344

Projections of Drosophila multidendritic neurons in the central nervous system: links with peripheral dendrite morphology

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5024344

Periventricular nodular heterotopia with overlying polymicrogyria

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5024344

Morphological identification of the motor neurons innervating the dorsal longitudinal flight muscle of Drosophila melanogaster

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5024344

Mutations at the asp locus of Drosophila lead to multiple free centrosomes in syncytial embryos, but restrict centrosome duplication in larval neuroblasts

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5024344

Microtubule-severing protein Katanin regulates neuromuscular junction development and dendritic elaboration in Drosophila

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5024344

The microcephaly protein Asp regulates neuroepithelium morphogenesis by controlling the spatial distribution of myosin II.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5024344

Lgl, Pins and aPKC regulate neuroblast self-renewal versus differentiation.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5024344

Worniu, a Snail family zinc-finger protein, is required for brain development in Drosophila

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5024344

Dendritic remodeling and growth of motoneurons during metamorphosis of Drosophila melanogaster.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5024344

Drosophila neuroblasts sequentially express transcription factors which specify the temporal identity of their neuronal progeny

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5024344

Drosophila Lis1 is required for neuroblast proliferation, dendritic elaboration and axonal transport.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5024344

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

3 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25521378

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Neuropathology of Rett syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25521378

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Microtubule-severing proteins are involved in flagellar length control and mitosis in Trypanosomatids

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25521378

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.NEURON.2014.12.014

1 reference

19 August 2017

1 reference

19 August 2017

PubMed publication ID

25521378

1 reference