(Q61990298)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30032983%20AND%20SRC:MED&resulttype=core&format=json

7 March 2019

scholarly article

1 reference

inferred from PubMed Central ID database lookup

title

Mutations in LNPK, Encoding the Endoplasmic Reticulum Junction Stabilizer Lunapark, Cause a Recessive Neurodevelopmental Syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30032983%20AND%20SRC:MED&resulttype=core&format=json

Lunapark, ER junction formation factor

7 March 2019

main subject

1 reference

endoplasmic reticulum organization

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

author

Martin Breuss

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30032983%20AND%20SRC:MED&resulttype=core&format=json

7 March 2019

17

Joseph G Gleeson

1 reference

7 March 2019

5

Valentina Stanley

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30032983%20AND%20SRC:MED&resulttype=core&format=json

7 March 2019

author name string

An Nguyen

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30032983%20AND%20SRC:MED&resulttype=core&format=json

7 March 2019

Qiong Song

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30032983%20AND%20SRC:MED&resulttype=core&format=json

7 March 2019

Thai Nguyen

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30032983%20AND%20SRC:MED&resulttype=core&format=json

7 March 2019

Kiely N James

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30032983%20AND%20SRC:MED&resulttype=core&format=json

7 March 2019

Damir Musaev

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30032983%20AND%20SRC:MED&resulttype=core&format=json

7 March 2019

Guoliang Chai

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30032983%20AND%20SRC:MED&resulttype=core&format=json

7 March 2019

Sara A Wirth

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30032983%20AND%20SRC:MED&resulttype=core&format=json

7 March 2019

Paula Anzenberg

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30032983%20AND%20SRC:MED&resulttype=core&format=json

7 March 2019

Renee D George

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30032983%20AND%20SRC:MED&resulttype=core&format=json

7 March 2019

Anide Johansen

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30032983%20AND%20SRC:MED&resulttype=core&format=json

7 March 2019

Shaila Ali

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30032983%20AND%20SRC:MED&resulttype=core&format=json

7 March 2019

Muhammad Zia-Ur-Rehman

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30032983%20AND%20SRC:MED&resulttype=core&format=json

7 March 2019

Tipu Sultan

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30032983%20AND%20SRC:MED&resulttype=core&format=json

7 March 2019

Maha S Zaki

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30032983%20AND%20SRC:MED&resulttype=core&format=json

7 March 2019

publication date

19 July 2018

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30032983%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

7 March 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30032983%20AND%20SRC:MED&resulttype=core&format=json

7 March 2019

volume

103

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30032983%20AND%20SRC:MED&resulttype=core&format=json

7 March 2019

page(s)

296-304

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30032983%20AND%20SRC:MED&resulttype=core&format=json

7 March 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30032983%20AND%20SRC:MED&resulttype=core&format=json

Diabetes mellitus and exocrine pancreatic dysfunction in perk-/- mice reveals a role for translational control in secretory cell survival

7 March 2019

cites work

1 reference

12 December 2020

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

1 reference

12 December 2020

Structural organization of the endoplasmic reticulum

1 reference

12 December 2020

A global control region defines a chromosomal regulatory landscape containing the HoxD cluster

1 reference

12 December 2020

Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia

1 reference

12 December 2020

SPG3A protein atlastin-1 is enriched in growth cones and promotes axon elongation during neuronal development

1 reference

12 December 2020

Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31

1 reference

12 December 2020

The evolutionarily conserved gene LNP-1 is required for synaptic vesicle trafficking and synaptic transmission.

1 reference

12 December 2020

MutationTaster evaluates disease-causing potential of sequence alterations

1 reference

12 December 2020

Late-onset hereditary spastic paraplegia with thin corpus callosum caused by a new SPG3A mutation

1 reference

12 December 2020

A regulatory archipelago controls Hox genes transcription in digits

1 reference

12 December 2020

Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12

1 reference

12 December 2020

HomozygosityMapper2012--bridging the gap between homozygosity mapping and deep sequencing

1 reference

12 December 2020

Exome sequencing can improve diagnosis and alter patient management

1 reference

12 December 2020

ER network formation requires a balance of the dynamin-like GTPase Sey1p and the Lunapark family member Lnp1p

1 reference

12 December 2020

Protein N-myristoylation plays a critical role in the endoplasmic reticulum morphological change induced by overexpression of protein Lunapark, an integral membrane protein of the endoplasmic reticulum

1 reference

12 December 2020

Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia

1 reference

12 December 2020

A model for the generation and interconversion of ER morphologies

1 reference

12 December 2020

Lunapark stabilizes nascent three-way junctions in the endoplasmic reticulum

1 reference

12 December 2020

Form follows function: the importance of endoplasmic reticulum shape

1 reference

12 December 2020

Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome

1 reference

12 December 2020

Nuclear pore complex integrity requires Lnp1, a regulator of cortical endoplasmic reticulum

1 reference

12 December 2020

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes

1 reference

12 December 2020

The endoplasmic reticulum: structure, function and response to cellular signaling

1 reference

12 December 2020

Shaping the Endoplasmic Reticulum into a Social Network

1 reference

12 December 2020

Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery

1 reference

12 December 2020

Analysis of protein-coding genetic variation in 60,706 humans

1 reference

12 December 2020

Cooperation of the ER-shaping proteins atlastin, lunapark, and reticulons to generate a tubular membrane network

1 reference

12 December 2020

The axonal endoplasmic reticulum: One organelle-many functions in development, maintenance, and plasticity.

1 reference

12 December 2020

Hereditary spastic paraplegia

1 reference

12 December 2020

10.1016/J.AJHG.2018.06.011

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30032983%20AND%20SRC:MED&resulttype=core&format=json

7 March 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30032983%20AND%20SRC:MED&resulttype=core&format=json

7 March 2019

1 reference