Genetic interaction between MTMR2 and FIG4 phospholipid phosphatases involved in Charcot-Marie-Tooth neuropathies (Q28477563)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22028665%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

title

Genetic interaction between MTMR2 and FIG4 phospholipid phosphatases involved in Charcot-Marie-Tooth neuropathies (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22028665%20AND%20SRC:MED&resulttype=core&format=json

Phosphoinositide kinase, FYVE type zinc finger containing

15 January 2020

main subject

1 reference

FIG4 phosphoinositide 5-phosphatase

GOA release 2020-03-11

1 reference

Myotubularin related protein 2

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

author

Gaetan Chicanne

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22028665%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Angelo Quattrini

9

1 reference

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15 January 2020

Alessandra Bolino

12

1 reference

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15 January 2020

7

Lawrence Wrabetz

1 reference

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15 January 2020

1

Ilaria Vaccari

1 reference

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15 January 2020

2

Giorgia Dina

1 reference

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15 January 2020

6

Federica Cerri

1 reference

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15 January 2020

11

Miriam H Meisler

1 reference

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15 January 2020

author name string

Hélène Tronchère

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22028665%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Emily Kaufman

4

1 reference

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15 January 2020

Bernard Payrastre

8

1 reference

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15 January 2020

Lois S Weisman

10

1 reference

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15 January 2020

language of work or name

English

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publication date

20 October 2011

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15 January 2020

1 reference

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15 January 2020

volume

7

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15 January 2020

issue

10

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15 January 2020

page(s)

e1002319

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Creative Commons Attribution 4.0 International

15 January 2020

copyright license

start time

20 October 2011

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

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Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J

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The Vac14p-Fig4p complex acts independently of Vac7p and couples PI3,5P2 synthesis and turnover

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Molecular basis for substrate recognition by MTMR2, a myotubularin family phosphoinositide phosphatase

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Crystal structure of a phosphoinositide phosphatase, MTMR2: insights into myotubular myopathy and Charcot-Marie-Tooth syndrome

19 March 2017

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Conversion of PtdIns(4,5)P(2) into PtdIns(5)P by the S.flexneri effector IpgD reorganizes host cell morphology

19 March 2017

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Osmotic stress-induced increase of phosphatidylinositol 3,5-bisphosphate requires Vac14p, an activator of the lipid kinase Fab1p

19 March 2017

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Functional redundancy in the myotubularin family

19 March 2017

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Myotubularin and MTMR2, phosphatidylinositol 3-phosphatases mutated in myotubular myopathy and type 4B Charcot-Marie-Tooth disease

19 March 2017

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Myotubularin, a protein tyrosine phosphatase mutated in myotubular myopathy, dephosphorylates the lipid second messenger, phosphatidylinositol 3-phosphate

19 March 2017

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The phosphoinositide 3-phosphatase MTMR2 interacts with PSD-95 and maintains excitatory synapses by modulating endosomal traffic

19 March 2017

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Multi-level regulation of myotubularin-related protein-2 phosphatase activity by myotubularin-related protein-13/set-binding factor-2

19 March 2017

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19 March 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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Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degeneration

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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Phosphoinositide 5-phosphatase Fig 4p is required for both acute rise and subsequent fall in stress-induced phosphatidylinositol 3,5-bisphosphate levels

29 September 2017

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29 September 2017

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Loss of Mtmr2 phosphatase in Schwann cells but not in motor neurons causes Charcot-Marie-Tooth type 4B1 neuropathy with myelin outfoldings.

29 September 2017

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Disruption of Mtmr2 produces CMT4B1-like neuropathy with myelin outfolding and impaired spermatogenesis

29 September 2017

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29 September 2017

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29 September 2017

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Expression of myotubularin by an adenoviral vector demonstrates its function as a phosphatidylinositol 3-phosphate [PtdIns(3)P] phosphatase in muscle cell lines: involvement of PtdIns(3)P in insulin-stimulated glucose transport

29 September 2017

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Disease mechanisms in inherited neuropathies

29 September 2017

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Loss of phosphatase activity in myotubularin-related protein 2 is associated with Charcot-Marie-Tooth disease type 4B1.

29 September 2017

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Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2.

29 September 2017

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D-3 phosphoinositide metabolism in cells treated with platelet-derived growth factor

29 September 2017

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Rapid formation of inositol 1,3,4,5-tetrakisphosphate and inositol 1,3,4-trisphosphate in rat parotid glands may both result indirectly from receptor-stimulated release of inositol 1,4,5-trisphosphate from phosphatidylinositol 4,5-bisphosphate

2 June 2018

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Autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths: clinical, electrophysiologic, and genetic aspects of a large family.

2 June 2018

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Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002319

P(0) glycoprotein overexpression causes congenital hypomyelination of peripheral nerves

21 January 2018

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PtdIns5P activates the host cell PI3-kinase/Akt pathway during Shigella flexneri infection.

21 January 2018

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Crossref

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10.1371/JOURNAL.PGEN.1002319

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22028665%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22028665%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

PubMed publication ID

22028665

1 reference