(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

author

William B. Dobyns

33

1 reference

19 August 2017

17

Hülya Kayserili

0 references

Fernando Vonhoff

Fernando Vonhoff

6

0 references

Ashleigh Schaffer

Ashleigh E Schaffer

3

0 references

Emily Spencer

Emily G Spencer

18

0 references

Maha Zaki

Maha S Zaki

14

0 references

Katsuhito Yasuno

Katsuhito Yasuno

38

0 references

Joseph G Gleeson

39

Joseph G Gleeson

1 reference

19 August 2017

Ketu Mishra-Gorur

1

1 reference

19 August 2017

Ahmet Okay Çağlayan

2

1 reference

19 August 2017

Chiswili Chabu

4

1 reference

19 August 2017

Octavian Henegariu

5

1 reference

19 August 2017

Gözde Tuğce Akgümüş

7

1 reference

19 August 2017

Sayoko Nishimura

8

1 reference

19 August 2017

Wenqi Han

9

1 reference

19 August 2017

Shu Tu

10

1 reference

19 August 2017

Burçin Baran

11

1 reference

19 August 2017

Hakan Gümüş

12

1 reference

19 August 2017

Cengiz Dilber

13

1 reference

19 August 2017

Heba A A Hossni

15

1 reference

19 August 2017

Jean-Baptiste Rivière

16

1 reference

19 August 2017

Rasim Ö Rosti

19

1 reference

19 August 2017

Jana Schroth

20

1 reference

19 August 2017

Hüseyin Per

21

1 reference

19 August 2017

Caner Çağlar

22

1 reference

19 August 2017

Çağri Çağlar

23

1 reference

19 August 2017

Duygu Dölen

24

1 reference

19 August 2017

Jacob F Baranoski

25

1 reference

19 August 2017

Sefer Kumandaş

26

1 reference

19 August 2017

Frank J Minja

27

1 reference

19 August 2017

E Zeynep Erson-Omay

28

1 reference

19 August 2017

Shrikant M Mane

29

1 reference

19 August 2017

Richard P Lifton

30

1 reference

19 August 2017

Tian Xu

31

1 reference

19 August 2017

Haig Keshishian

32

1 reference

19 August 2017

Neil C Chi

34

1 reference

19 August 2017

Nenad Šestan

35

1 reference

19 August 2017

Angeliki Louvi

36

1 reference

19 August 2017

Kaya Bilgüvar

37

1 reference

19 August 2017

Murat Günel

40

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

84

1 reference

19 August 2017

6

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