LIS1 missense mutations: variable phenotypes result from unpredictable alterations in biochemical and cellular properties (Q43861641)

27 November 2017

LIS1 missense mutations: variable phenotypes result from unpredictable alterations in biochemical and cellular properties (English)

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27 November 2017

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27 November 2017

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27 November 2017

Frédéric M Coquelle

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author name string

Michal Caspi

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27 November 2017

Cynthia Koifman

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27 November 2017

Talia Levy

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27 November 2017

Hiroyuki Arai

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27 November 2017

Jan R De Mey

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27 November 2017

language of work or name

English

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publication date

28 July 2003

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Journal of Biological Chemistry

27 November 2017

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27 November 2017

278

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27 November 2017

40

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27 November 2017

38740-38748

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

27 November 2017

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M301147200

A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M301147200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M301147200

LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M301147200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M301147200

Band heterotopia: Correlation of outcome with magnetic resonance imaging parameters

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M301147200

Auxological and biochemical evaluation of pubertal suppression with the GnRH agonist leuprolide acetate in early and precocious puberty

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M301147200

Fluorescence in situ hybridization analysis with LIS1 specific probes reveals a high deletion mutation rate in isolated lissencephaly sequence.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M301147200

Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1).

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M301147200

The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M301147200

Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M301147200

Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M301147200

The ancient regulatory-protein family of WD-repeat proteins

21 January 2018

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https://api.crossref.org/works/10.1074%2FJBC.M301147200

LIS1. let's interact sometimes... (part 1).

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M301147200

A new sequence motif linking lissencephaly, Treacher Collins and oral-facial-digital type 1 syndromes, microtubule dynamics and cell migration

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M301147200

Targeted mutagenesis of Lis1 disrupts cortical development and LIS1 homodimerization

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M301147200

Nuclear migration, nucleokinesis and lissencephaly.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M301147200

NudF, a nuclear migration gene in Aspergillus nidulans, is similar to the human LIS-1 gene required for neuronal migration

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M301147200

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M301147200

The lissencephaly gene product Lis1, a protein involved in neuronal migration, interacts with a nuclear movement protein, NudC

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M301147200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M301147200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M301147200

Direct association of LIS1, the lissencephaly gene product, with a mammalian homologue of a fungal nuclear distribution protein, rNUDE

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M301147200

The "8-kD" cytoplasmic dynein light chain is required for nuclear migration and for dynein heavy chain localization in Aspergillus nidulans

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M301147200

Cytoplasmic dynein is involved in nuclear migration in Aspergillus nidulans

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M301147200

Dynamics of cytoplasmic dynein in living cells and the effect of a mutation in the dynactin complex actin-related protein Arp1

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M301147200

Regulation of cytoplasmic dynein behaviour and microtubule organization by mammalian Lis1

21 January 2018

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https://api.crossref.org/works/10.1074%2FJBC.M301147200

A role for the lissencephaly gene LIS1 in mitosis and cytoplasmic dynein function

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M301147200

Reduction of microtubule catastrophe events by LIS1, platelet-activating factor acetylhydrolase subunit.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M301147200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M301147200

LIS1, CLIP-170's key to the dynein/dynactin pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M301147200

Interaction between LIS1 and doublecortin, two lissencephaly gene products

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M301147200

Miller-Dieker lissencephaly gene encodes a subunit of brain platelet-activating factor acetylhydrolase [corrected]

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M301147200

Switching of platelet-activating factor acetylhydrolase catalytic subunits in developing rat brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M301147200

Homologs of the alpha- and beta-subunits of mammalian brain platelet-activating factor acetylhydrolase Ib in the Drosophila melanogaster genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M301147200

Targeted disruption of intracellular type I platelet activating factor-acetylhydrolase catalytic subunits causes severe impairment in spermatogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M301147200

Doublecortin, a stabilizer of microtubules

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M301147200

Folding of proteins with WD-repeats: comparison of six members of the WD-repeat superfamily to the G protein beta subunit.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M301147200

Dynein and dynactin are localized to astral microtubules and at cortical sites in mitotic epithelial cells.

21 January 2018

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https://api.crossref.org/works/10.1074%2FJBC.M301147200

Lissencephaly associated mutations suggest a requirement for the PAFAH1B heterotrimeric complex in brain development

21 January 2018

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https://api.crossref.org/works/10.1074%2FJBC.M301147200

NudE-L, a novel Lis1-interacting protein, belongs to a family of vertebrate coiled-coil proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M301147200

Analysis of lissencephaly-causingLIS1mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M301147200

Intracellular levels of the LIS1 protein correlate with clinical and neuroradiological findings in patients with classical lissencephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M301147200

LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M301147200

21 January 2018

Identifiers

DOI

10.1074/JBC.M301147200

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27 November 2017

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