(Q35168102)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25574898%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

title

Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25574898%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

main subject

photoreceptor protein

0 references

Swiss cheese Dmel_CG2212

1 reference

GOA release 2020-03-11

author

Viktor Stránecký

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25574898%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

Hana Hartmannová

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25574898%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

Anna Přistoupilová

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25574898%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

Kateřina Hodaňová

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25574898%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

Lenka Piherová

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25574898%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

Ladislav Kuchař

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25574898%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

Alice Baxová

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25574898%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

Orlando G. Barsottini

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25574898%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

Helen Griffin

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25574898%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

Juliana M F Sallum

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25574898%20AND%20SRC:MED&resulttype=core&format=json

Charlotte Helfrich-Förster

27 February 2020

33

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25574898%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

José Luiz Pedroso

34

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25574898%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

Michel Cayouette

36

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25574898%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

author name string

S Kmoch

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25574898%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

J Majewski

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25574898%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

V Ramamurthy

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25574898%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

S Cao

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25574898%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

S Fahiminiya

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25574898%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

H Ren

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25574898%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

I M MacDonald

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25574898%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

I Lopez

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25574898%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

V Sun

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25574898%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

V Keser

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25574898%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

A Khan

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25574898%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

R Chen

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25574898%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

A Pyle

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25574898%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

M Splitt

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25574898%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

J L Tolmie

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25574898%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

J R Sampson

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25574898%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

Care4Rare Canada

28

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25574898%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

E Banin

29

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25574898%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

D Sharon

30

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25574898%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

S Dutta

31

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25574898%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

R Grebler

32

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25574898%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

D Kretzschmar

35

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25574898%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

R K Koenekoop

37

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25574898%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

P Chinnery

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25574898%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

language of work or name

English

0 references

publication date

9 January 2015

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25574898%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

published in

Nature Communications

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25574898%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

volume

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25574898%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

page(s)

5614

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25574898%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/ncomms6614

27 February 2020

exact match

0 references

cites work

Mutations in ANTXR1 cause GAPO syndrome.

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β-secretase cleavage of the fly amyloid precursor protein is required for glial survival

13 July 2018

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Localization of Usher 1 proteins to the photoreceptor calyceal processes, which are absent from mice

13 July 2018

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Knockdown of Pnpla6 protein results in motor neuron defects in zebrafish

13 July 2018

1 reference

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The emerging role of lysophosphatidic acid (LPA) in skeletal biology

13 July 2018

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13 July 2018

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Motor neuron disease due to neuropathy target esterase gene mutation: clinical features of the index families

13 July 2018

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Loss of lysophosphatidylcholine acyltransferase 1 leads to photoreceptor degeneration in rd11 mice

13 July 2018

1 reference

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Motor neuron disease due to neuropathy target esterase mutation: enzyme analysis of fibroblasts from human subjects yields insights into pathogenesis.

13 July 2018

1 reference

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13 July 2018

1 reference

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Organophosphates induce distal axonal damage, but not brain oedema, by inactivating neuropathy target esterase

13 July 2018

1 reference

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Neuropathy target esterase: an essential enzyme for neural development and axonal maintenance

13 July 2018

1 reference

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Neuropathy target esterase is required for adult vertebrate axon maintenance

13 July 2018

1 reference

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13 July 2018

1 reference

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Fast and accurate short read alignment with Burrows-Wheeler transform

13 July 2018

1 reference

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Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair

13 July 2018

1 reference

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G protein-coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth

13 July 2018

1 reference

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Human hair growth deficiency is linked to a genetic defect in the phospholipase gene LIPH

13 July 2018

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Neuropathy target esterase and phospholipid deacylation

13 July 2018

1 reference

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Loss of Swiss cheese/neuropathy target esterase activity causes disruption of phosphatidylcholine homeostasis and neuronal and glial death in adult Drosophila

13 July 2018

1 reference

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Brain-specific deletion of neuropathy target esterase/swisscheese results in neurodegeneration

13 July 2018

1 reference

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Neuropathy target esterase and its yeast homologue degrade phosphatidylcholine to glycerophosphocholine in living cells

13 July 2018

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Loss of neuropathy target esterase in mice links organophosphate exposure to hyperactivity

13 July 2018

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Platelet-derived growth factor and lysophosphatidic acid inhibit growth hormone binding and signaling via a protein kinase C-dependent pathway

13 July 2018

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13 July 2018

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Evidence for the existence of neurotoxic esterase in neural and lymphatic tissue of the adult hen.

13 July 2018

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13 July 2018

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The delayed neurotoxic effect of some organophosphorus compounds. Identification of the phosphorylation site as an esterase

13 July 2018

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13 July 2018

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13 July 2018

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Whole-exome sequencing reveals a heterozygous LRP5 mutation in a 6-year-old boy with vertebral compression fractures and low trabecular bone density.

27 September 2018

1 reference

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Phosphatidic acid has a potential to promote hair growth in vitro and in vivo, and activates mitogen-activated protein kinase/extracellular signal-regulated kinase kinase in hair epithelial cells

27 September 2018

1 reference

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NTE: one target protein for different toxic syndromes with distinct mechanisms?

27 September 2018

1 reference

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Mutations in WNT1 are a cause of osteogenesis imperfecta

27 September 2018

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12 December 2020

Region-specific distribution of glycosphingolipids in the rabbit gastrointestinal tract: preferential enrichment of sulfoglycolipids in the mucosal regions exposed to acid

1 reference

12 December 2020

Radiation inactivation of ion channels formed by gramicidin A. Protection by lipid double bonds and by α-tocopherol

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12 December 2020

RECEPTOR CELL OUTER SEGMENT DEVELOPMENT AND ULTRASTRUCTURE OF THE DISK MEMBRANES IN THE RETINA OF THE TADPOLE (RANA PIPIENS)

1 reference

12 December 2020

Identifiers

DOI

10.1038/NCOMMS6614

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25574898%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25574898%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25574898%20AND%20SRC:MED&resulttype=core&format=json