(Q24615772)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14668431%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

title

Unstable mutants in the peripheral endosomal membrane component ALS2 cause early-onset motor neuron disease (English)

1 reference

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21 December 2019

1 reference

1

1 reference

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21 December 2019

Eléonore Eymard-Pierre

3

1 reference

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21 December 2019

Enrico Bertini

4

1 reference

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21 December 2019

Don W. Cleveland

6

1 reference

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21 December 2019

Christine Vande Velde

2

object named as

Christine Vande Velde

1 reference

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21 December 2019

author name string

Odile Boespflug-Tanguy

5

1 reference

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21 December 2019

language of work or name

English

0 references

publication date

10 December 2003

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14668431%20AND%20SRC:MED&resulttype=core&format=json

Proceedings of the National Academy of Sciences of the United States of America

21 December 2019

published in

1 reference

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21 December 2019

volume

100

1 reference

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21 December 2019

page(s)

16041-16046

1 reference

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21 December 2019

issue

26

1 reference

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ALS2, a novel guanine nucleotide exchange factor for the small GTPase Rab5, is implicated in endosomal dynamics

21 December 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=307689

A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10)

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=307689

Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=307689

A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=307689

Identification of the von Hippel-lindau tumor-suppressor protein as part of an active E3 ubiquitin ligase complex

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=307689

The mammalian calcium-binding protein, nucleobindin (CALNUC), is a Golgi resident protein

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=307689

Isolation and characterization of the active cDNA of the human cell cycle gene (RCC1) involved in the regulation of onset of chromosome condensation

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=307689

Rab proteins as membrane organizers

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=307689

A yeast protein related to a mammalian Ras-binding protein, Vps9p, is required for localization of vacuolar proteins

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=307689

The first nonsense mutation in alsin results in a homogeneous phenotype of infantile-onset ascending spastic paralysis with bulbar involvement in two siblings

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=307689

Infantile ascending hereditary spastic paralysis (IAHSP): clinical features in 11 families

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=307689

Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=307689

The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=307689

Junctophilins: a novel family of junctional membrane complex proteins

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=307689

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=307689

Guanine nucleotide exchange factors for Rho GTPases: turning on the switch

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=307689

A novel Rab5 GDP/GTP exchange factor complexed to Rabaptin-5 links nucleotide exchange to effector recruitment and function

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=307689

SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=307689

Both calmodulin and the unconventional myosin Myr4 regulate membrane trafficking along the recycling pathway of MDCK cells

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=307689

Hereditary motor system diseases (chronic juvenile amyotrophic lateral sclerosis). Conditions combining a bilateral pyramidal syndrome with limb and bulbar amyotrophy

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=307689

AnALS2gene mutation causes hereditary spastic paraplegia in a Pakistani kindred

30 May 2018

1 reference

Crossref

https://api.crossref.org/works/10.1073%2FPNAS.2635267100

Erratum: Genetic inroads in familial ALS

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1073%2FPNAS.2635267100

21 January 2018

Identifiers

DOI

10.1073/PNAS.2635267100

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14668431%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

0 references

1 reference

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21 December 2019

1 reference