Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1). (Q34468937)

2 August 2017

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title

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

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2 August 2017

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12

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2 August 2017

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Christa Lese Martin

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2 August 2017

13

David H Ledbetter

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2 August 2017

Carlos Cardoso

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2 August 2017

Richard J Leventer

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2 August 2017

James J Dowling

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2 August 2017

Heather L Ward

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2 August 2017

June Chung

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2 August 2017

Kristin S Petras

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2 August 2017

Jessica A Roseberry

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2 August 2017

Ann M Weiss

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2 August 2017

Soma Das

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2 August 2017

Daniela T Pilz

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2 August 2017

language of work or name

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1 January 2002

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2 August 2017

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PAF analogues capable of inhibiting PAF acetylhydrolase activity suppress migration of isolated rat cerebellar granule cells.

2 August 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10028

Platelet-activating factor acetylhydrolase expression and activity suggest a link between neuronal migration and platelet-activating factor

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10028

The spectrum of lissencephaly: report of ten patients analyzed by magnetic resonance imaging

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.10028

Band heterotopia: correlation of outcome with magnetic resonance imaging parameters

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.10028

Targeted mutagenesis of Lis1 disrupts cortical development and LIS1 homodimerization

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.10028

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

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.10028

Interaction between LIS1 and doublecortin, two lissencephaly gene products

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.10028

A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10028

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10028

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/10.1002%2FHUMU.10028

doublecortin is the major gene causing X-linked subcortical laminar heterotopia (SCLH)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10028

Miller-Dieker syndrome: lissencephaly and monosomy 17p.

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.10028

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/10.1002%2FHUMU.10028

Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10028

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10028

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10028

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10028

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/10.1002%2FHUMU.10028

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/10.1002%2FHUMU.10028

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10028

Cloning and expression of a cDNA encoding the beta-subunit (30-kDa subunit) of bovine brain platelet-activating factor acetylhydrolase.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10028

PAF and PAF acetylhydrolase in the nervous system

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.10028

Graded reduction of Pafah1b1 (Lis1) activity results in neuronal migration defects and early embryonic lethality

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10028

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/10.1002%2FHUMU.10028

The Drosophila Lissencephaly1 (DLis1) gene is required for nuclear migration.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10028

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10028

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/10.1002%2FHUMU.10028

Nuclear migration, nucleokinesis and lissencephaly.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10028

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10028

Lissencephaly-1 is one of the most conserved proteins between mouse and human: a single amino-acid difference in 410 residues.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10028

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10028

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/10.1002%2FHUMU.10028

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/10.1002%2FHUMU.10028

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10028

Alteration of the LIS1 gene in Japanese patients with isolated lissencephaly sequence or Miller-Dieker syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10028

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10028

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/10.1002%2FHUMU.10028

Regulation of cytoplasmic dynein behaviour and microtubule organization by mammalian Lis1

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10028

The WD repeat: a common architecture for diverse functions

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10028

Drosophila Lissencephaly-1 functions with Bic-D and dynein in oocyte determination and nuclear positioning

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10028

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10028

Binding of pleckstrin homology domains to WD40/beta-transducin repeat containing segments of the protein product of the Lis-1 gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10028

Analysis of lissencephaly-causingLIS1mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10028

Nudf, a fungal homolog of the human LIS1 protein, functions as a dimer in vivo

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10028

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10028

7 January 2021

Genetic and neuroradiological heterogeneity of double cortex syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10028

7 January 2021

Frequent intragenic polymorphism in the 3' untranslated region of the lissencephaly gene 1 (LIS-1).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10028

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10028

7 January 2021

Identifiers

DOI

10.1002/HUMU.10028

1 reference

2 August 2017

1 reference