(Q28115985)

4 January 2017

title

Dysfunction of spatacsin leads to axonal pathology in SPG11-linked hereditary spastic paraplegia (English)

1 reference

SPG11 vesicle trafficking associated, spatacsin

4 January 2017

0 references

1 reference

synaptic vesicle transport

1 reference

SPG11, spatacsin vesicle trafficking associated

1 reference

Discs large MAGUK scaffold protein 4

1 reference

Vesicle-associated membrane protein 2

1 reference

hereditary spastic paraplegia

1 reference

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24794856%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Martin Regensburger

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24794856%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Elisabeth Sock

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24794856%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Juan Blasi

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24794856%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Beate Winner

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24794856%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

15

Jürgen Winkler

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24794856%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

author name string

Francesc Pérez-Brangulí

1

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24794856%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Steven Havlicek

4

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24794856%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Zacharias Kohl

5

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24794856%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Domenica Saul

6

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24794856%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Christine Rummel

7

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24794856%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Jonatan Dorca-Arevalo

8

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24794856%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Daniela Graef

10

2 references

4 January 2017

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2 June 2020

Himanshu K Mishra

2

1 reference

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2 June 2020

Teja W Groemer

13

1 reference

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2 June 2020

Ursula Schlötzer-Schrehardt

14

1 reference

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2 June 2020

publication date

15 September 2014

1 reference

4 January 2017

published in

Human Molecular Genetics

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24794856%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

volume

23

2 references

4 January 2017

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2 June 2020

issue

18

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24794856%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

page(s)

4859-4874

1 reference

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describes a project that uses

2 June 2020

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4140466/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

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Cellular distribution and subcellular localization of spatacsin and spastizin, two proteins involved in hereditary spastic paraplegia

20 March 2017

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Adaptor protein complexes AP-4 and AP-5: new players in endosomal trafficking and progressive spastic paraplegia

20 March 2017

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A hereditary spastic paraplegia mouse model supports a role of ZFYVE26/SPASTIZIN for the endolysosomal system

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Gene dosage-dependent rescue of HSP neurite defects in SPG4 patients' neurons

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Defective autophagy in spastizin mutated patients with hereditary spastic paraparesis type 15

29 September 2017

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Interaction between AP-5 and the hereditary spastic paraplegia proteins SPG11 and SPG15.

29 September 2017

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29 September 2017

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29 September 2017

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29 September 2017

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29 September 2017

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Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafish

29 September 2017

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Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia.

29 September 2017

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29 September 2017

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29 September 2017

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29 September 2017

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29 September 2017

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29 September 2017

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29 September 2017

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29 September 2017

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29 September 2017

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Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum

2 June 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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27 November 2018

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27 November 2018

1 reference

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inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/HMG/DDU200

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24794856%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24794856%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24794856%20AND%20SRC:MED&resulttype=core&format=json