Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS. (Q35906336)

11 August 2017

Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS. (English)

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amyotrophic lateral sclerosis

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23

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Guy A Rouleau

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Athina Soragia Gkazi

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Athina Soragia Gkazi

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Jacqueline de Belleroche

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Jacqueline de Belleroche

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Diane McKenna-Yasek

26

Diane McKenna-Yasek

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Wouter van Rheenen

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Wouter van Rheenen

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Emma Scotter

Emma L Scotter

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Kelly L Williams

Kelly L Williams

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Simon Topp

Simon Topp

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Barbara Castellotti

Barbara Castellotti

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Russell McLaughlin

Russell L McLaughlin

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Bradley N. Smith

Bradley N Smith

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Nicola Ticozzi

Nicola Ticozzi

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Caroline Vance

Caroline Vance

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Stefania Corti

Stefania Corti

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Stefano Duga

Stefano Duga

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Cristina Cereda

Cristina Cereda

39

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Cinzia Gellera

Cinzia Gellera

61

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Claire Troakes

Claire Troakes

14

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Kevin Talbot

Kevin Talbot

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Martin R. Turner

Martin R Turner

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Giuseppe Lauria

Giuseppe Lauria

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Pamela Shaw

Pamela J Shaw

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Patrick A Dion

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Patrick A Dion

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Christopher E Shaw

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Viviana Pensato

Viviana Pensato

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Michael Simpson

Michael Simpson

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Ian P Blair

Ian P Blair

45

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Karen E Morrison

Karen E Morrison

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Ammar Al-Chalabi

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Ammar Al-Chalabi

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Leonard H van den Berg

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Leonard H van den Berg

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Jan H Veldink

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SLAGEN Consortium

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Lucia Corrado

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Claire S Leblond

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Jason Kost

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Meraida Polak

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José Luis Muñoz-Blanco

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José Luis Muñoz-Blanco

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Jesús Esteban-Pérez

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Alberto Garcia Redondo

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Alberto García-Redondo

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Antonia Ratti

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Kevin P Kenna

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Pamela Keagle

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Cinzia Tiloca

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Safa Al-Sarraj

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Peter C Sapp

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Seneshaw Asress

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Frank P Diekstra

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Jonathan D Glass

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John E Landers

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Daniela Calini

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Hardev Pall

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Claudia Fallini

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Claudia Colombrita

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Robert H Brown

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Jack W Miller

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Eric W Danielson

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Elizabeth A Lewis

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Andrew King

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Anneloor L M A ten Asbroek

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Gianni Sorarù

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Garth A Nicholson

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Franco Taroni

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Zheyang Wu

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Vincenzo Silani

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11 August 2017

language of work or name

English

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publication date

22 October 2014

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324-331

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describes a project that uses

11 August 2017

ImageJ

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11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4521390/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

cites work

Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4521390

Effects of tubulin acetylation and tubulin acetyltransferase binding on microtubule structure

11 July 2018

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In search of low-frequency and rare variants affecting complex traits

11 July 2018

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Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing

11 July 2018

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Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly

11 July 2018

1 reference

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Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia

11 July 2018

1 reference

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Mutations in the β-tubulin gene TUBB5 cause microcephaly with structural brain abnormalities

11 July 2018

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ArrayExpress update--trends in database growth and links to data analysis tools

11 July 2018

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Extensive genetics of ALS: a population-based study in Italy

11 July 2018

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Molecular Basis for Specific Regulation of Neuronal Kinesin-3 Motors by Doublecortin Family Proteins

11 July 2018

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Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis

11 July 2018

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Exome sequencing and the genetic basis of complex traits

11 July 2018

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Evolution and functional impact of rare coding variation from deep sequencing of human exomes

11 July 2018

1 reference

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Computational and statistical approaches to analyzing variants identified by exome sequencing

11 July 2018

1 reference

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Unlocking Mendelian disease using exome sequencing

11 July 2018

1 reference

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Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4521390

Disease-associated mutations in TUBA1A result in a spectrum of defects in the tubulin folding and heterodimer assembly pathway

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4521390

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4521390

High-efficiency transfection of cultured primary motor neurons to study protein localization, trafficking, and function

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4521390

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4521390

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4521390

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4521390

A pachygyria-causing alpha-tubulin mutation results in inefficient cycling with CCT and a deficient interaction with TBCB.

11 July 2018

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

11 July 2018

1 reference

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Mutations in alpha-tubulin cause abnormal neuronal migration in mice and lissencephaly in humans

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4521390

Gene expression profile of spinal motor neurons in sporadic amyotrophic lateral sclerosis

11 July 2018

1 reference

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A frameshift deletion in peripherin gene associated with amyotrophic lateral sclerosis

11 July 2018

1 reference

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In vivo destabilization of dynamic microtubules by HDAC6-mediated deacetylation

11 July 2018

1 reference

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Missense mutation in the tubulin-specific chaperone E (Tbce) gene in the mouse mutant progressive motor neuronopathy, a model of human motoneuron disease

11 July 2018

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A missense mutation in Tbce causes progressive motor neuronopathy in mice

11 July 2018

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Microtubules containing acetylated alpha-tubulin in mammalian cells in culture

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4521390

Isolation of separate mRNAs for alpha- and beta-tubulin and characterization of the corresponding in vitro translation products.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4521390

Mutant dynactin in motor neuron disease.

11 July 2018

1 reference

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Deletions of the heavy neurofilament subunit tail in amyotrophic lateral sclerosis

24 September 2018

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PubMed

https://pubmed.ncbi.nlm.nih.gov/25374358

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.NEURON.2014.09.027

1 reference

11 August 2017

1 reference

11 August 2017

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