The Power of Human Protective Modifiers: PLS3 and CORO1C Unravel Impaired Endocytosis in Spinal Muscular Atrophy and Rescue SMA Phenotype (Q37231423)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27499521 AND SRC:MED&resulttype=core&format=json

20 March 2020

title

The Power of Human Protective Modifiers: PLS3 and CORO1C Unravel Impaired Endocytosis in Spinal Muscular Atrophy and Rescue SMA Phenotype (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27499521 AND SRC:MED&resulttype=core&format=json

20 March 2020

main subject

spinal muscular atrophy

1 reference

Survival of motor neuron 1, telomeric

inferred from title

1 reference

Seyyed Mohsen Hosseini Barkooie

GOA release 2020-03-11

1 reference

1 reference

1

1 reference

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20 March 2020

Markus Riessland

17

1 reference

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20 March 2020

Min Jeong Kye

18

1 reference

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20 March 2020

Matthias Hammerschmidt

16

object named as

Matthias Hammerschmidt

1 reference

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20 March 2020

author name string

Miriam Peters

2

1 reference

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20 March 2020

Laura Torres-Benito

3

1 reference

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20 March 2020

Raphael H Rastetter

4

1 reference

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20 March 2020

Kristina Hupperich

5

1 reference

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20 March 2020

Andrea Hoffmann

6

1 reference

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20 March 2020

Natalia Mendoza-Ferreira

7

1 reference

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20 March 2020

Anna Kaczmarek

8

1 reference

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20 March 2020

Eva Janzen

9

1 reference

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20 March 2020

Janine Milbradt

10

1 reference

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20 March 2020

Tobias Lamkemeyer

11

1 reference

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20 March 2020

Frank Rigo

12

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20 March 2020

C Frank Bennett

13

1 reference

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20 March 2020

Christoph Guschlbauer

14

1 reference

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20 March 2020

Ansgar Büschges

15

1 reference

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20 March 2020

Christoph S Clemen

19

1 reference

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20 March 2020

Brunhilde Wirth

20

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20 March 2020

language of work or name

English

0 references

publication date

4 August 2016

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27499521 AND SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

20 March 2020

published in

1 reference

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20 March 2020

volume

99

1 reference

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20 March 2020

issue

3

1 reference

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20 March 2020

page(s)

647-665

1 reference

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describes a project that uses

20 March 2020

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5011078/fullTextXML

inferred from PubMed Central ID database lookup

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6 September 2017

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6 September 2017

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6 September 2017

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6 September 2017

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6 September 2017

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6 September 2017

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6 September 2017

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6 September 2017

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6 September 2017

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6 September 2017

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6 September 2017

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6 September 2017

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6 September 2017

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6 September 2017

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6 September 2017

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6 September 2017

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The spinal muscular atrophy disease gene product, SMN, and its associated protein SIP1 are in a complex with spliceosomal snRNP proteins

6 September 2017

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Inactivation of the survival motor neuron gene, a candidate gene for human spinal muscular atrophy, leads to massive cell death in early mouse embryos

6 September 2017

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6 September 2017

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Actin and fimbrin are required for the internalization step of endocytosis in yeast

6 September 2017

1 reference

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Identification and characterization of a spinal muscular atrophy-determining gene

6 September 2017

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Single-step purification of polypeptides expressed in Escherichia coli as fusions with glutathione S-transferase

6 September 2017

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SMN affects membrane remodelling and anchoring of the protein synthesis machinery

6 September 2017

1 reference

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Molecular basis for dissimilar nuclear trafficking of the actin-bundling protein isoforms T- and L-plastin.

14 September 2017

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Survival motor neuron (SMN) protein interacts with transcription corepressor mSin3A.

14 September 2017

1 reference

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Pharmacologically induced mouse model of adult spinal muscular atrophy to evaluate effectiveness of therapeutics after disease onset

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5011078

Plastin 3 is upregulated in iPSC-derived motoneurons from asymptomatic SMN1-deleted individuals.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5011078

Involvement of survival motor neuron (SMN) protein in cell death

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5011078

Integration of the Rac1- and actin-binding properties of Coronin-1C

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5011078

An SMN-dependent U12 splicing event essential for motor circuit function

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5011078

Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5011078

The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5011078

Moving towards treatments for spinal muscular atrophy: hopes and limits

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5011078

Plastin 3 ameliorates spinal muscular atrophy via delayed axon pruning and improves neuromuscular junction functionality.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5011078

Plastin 3 expression in discordant spinal muscular atrophy (SMA) siblings

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5011078

Altered intracellular Ca2 homeostasis in nerve terminals of severe spinal muscular atrophy mice.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5011078

Identification of a battery of tests for drug candidate evaluation in the SMNDelta7 neonate model of spinal muscular atrophy.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5011078

Selective vulnerability of motor neurons and dissociation of pre- and post-synaptic pathology at the neuromuscular junction in mouse models of spinal muscular atrophy

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5011078

Neuromuscular synapses can form in vivo by incorporation of initially aneural postsynaptic specializations

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5011078

Endocytosis in fission yeast is spatially associated with the actin cytoskeleton during polarised cell growth and cytokinesis

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5011078

A role for complexes of survival of motor neurons (SMN) protein with gemins and profilin in neurite-like cytoplasmic extensions of cultured nerve cells.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5011078

Actin dynamics at pointed ends regulates thin filament length in striated muscle

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5011078

Neurotransmitter release in motor nerve terminals of a mouse model of mild spinal muscular atrophy

3 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27499521

12 December 2020

inferred from PubMed ID database lookup

Smn depletion alters profilin II expression and leads to upregulation of the RhoA/ROCK pathway and defects in neuronal integrity

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27499521

12 December 2020

inferred from PubMed ID database lookup

One-step purification of recombinant proteins with the 6xHis tag and Ni-NTA resin

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27499521

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1016/J.AJHG.2016.07.014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27499521 AND SRC:MED&resulttype=core&format=json

20 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27499521 AND SRC:MED&resulttype=core&format=json

20 March 2020

PubMed publication ID

27499521

1 reference