(Q29017135)

23 March 2017

title

Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway (English)

1 reference

23 March 2017

0 references

endoplasmic reticulum

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author

Huda Zoghbi

31

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Rajini Haraksingh

object named as

Rajini Haraksingh

26

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Farah R. Zahir

object named as

Farah R. Zahir

5

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Atul Butte

22

object named as

Atul J. Butte

1 reference

23 March 2017

32

Michael Snyder

1 reference

23 March 2017

8

Kelly Schoch

1 reference

23 March 2017

27

FORGE Canada Consortium

1 reference

23 March 2017

33

Richard A. Gibbs

1 reference

23 March 2017

1

Gregory M. Enns

1 reference

23 March 2017

Vandana Shashi

2

1 reference

23 March 2017

Matthew Bainbridge

3

1 reference

23 March 2017

Michael J. Gambello

4

1 reference

23 March 2017

Thomas Bast

6

1 reference

23 March 2017

Rebecca Crimian

7

1 reference

23 March 2017

Julia Platt

9

1 reference

23 March 2017

Rachel Cox

10

1 reference

23 March 2017

Jonathan A. Bernstein

11

1 reference

23 March 2017

Mena Scavina

12

1 reference

23 March 2017

Rhonda S. Walter

13

1 reference

23 March 2017

Audrey Bibb

14

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23 March 2017

Melanie Jones

15

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23 March 2017

Madhuri Hegde

16

1 reference

23 March 2017

Brett H. Graham

17

1 reference

23 March 2017

Anna C. Need

18

1 reference

23 March 2017

Angelica Oviedo

19

1 reference

23 March 2017

Christian P. Schaaf

20

1 reference

23 March 2017

Sean Boyle

21

1 reference

23 March 2017

Rui Chen

23

1 reference

23 March 2017

Rong Chen

24

1 reference

23 March 2017

Michael J. Clark

25

1 reference

23 March 2017

Tina M. Cowan

28

1 reference

23 March 2017

Ping He

29

1 reference

23 March 2017

Sylvie Langlois

30

1 reference

23 March 2017

Hudson H. Freeze

34

1 reference

23 March 2017

David B. Goldstein

35

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23 March 2017

language of work or name

English

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publication date

1 October 2014

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23 March 2017

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23 March 2017

volume

16

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23 March 2017

issue

10

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23 March 2017

page(s)

751–758

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Clinical application of exome sequencing in undiagnosed genetic conditions

23 March 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4243708

NMR characterization of the interaction between the PUB domain of peptide:N-glycanase and ubiquitin-like domain of HR23

26 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4243708

An endoplasmic reticulum (ER) membrane complex composed of SPFH1 and SPFH2 mediates the ER-associated degradation of inositol 1,4,5-trisphosphate receptors

26 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4243708

SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation

26 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4243708

Protein dislocation from the ER requires polyubiquitination and the AAA-ATPase Cdc48.

26 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4243708

Identification of proteins that interact with mammalian peptide:N-glycanase and implicate this hydrolase in the proteasome-dependent pathway for protein degradation

26 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4243708

PNG1, a yeast gene encoding a highly conserved peptide:N-glycanase

26 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4243708

Mutant WD-repeat protein in triple-A syndrome

26 March 2017

1 reference

https://api.crossref.org/works/10.1038/GIM.2014.22

Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene

22 April 2017

1 reference

https://api.crossref.org/works/10.1038/GIM.2014.22

Familial dysautonomia is caused by mutations of the IKAP gene

22 April 2017

1 reference

https://api.crossref.org/works/10.1038/GIM.2014.22

Mitochondrial respiratory-chain diseases

22 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4243708

Genic intolerance to functional variation and the interpretation of personal genomes

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4243708

Golgi-situated endoplasmic reticulum α-1, 2-mannosidase contributes to the retrieval of ERAD substrates through a direct interaction with γ-COP.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4243708

Understanding human glycosylation disorders: biochemistry leads the charge

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4243708

Identification and characterization of peptide: N-glycanase from Dictyostelium discoideum

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4243708

Neurology of inherited glycosylation disorders

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4243708

Molecular and structural basis for N-glycan-dependent determination of glycoprotein fates in cells.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4243708

A nullimorphic ERLIN2 mutation defines a complicated hereditary spastic paraplegia locus (SPG18)

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4243708

Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4243708

Golgi localization of ERManI defines spatial separation of the mammalian glycoprotein quality control system

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4243708

RNF170 protein, an endoplasmic reticulum membrane ubiquitin ligase, mediates inositol 1,4,5-trisphosphate receptor ubiquitination and degradation

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4243708

The N-glycanase png-1 acts to limit axon branching during organ formation in Caenorhabditis elegans.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4243708

Structural views of glycoprotein-fate determination in cells.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4243708

Altered glycan structures: the molecular basis of congenital disorders of glycosylation

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4243708

Cytoplasmic peptide:N-glycanase (PNGase) in eukaryotic cells: occurrence, primary structure, and potential functions

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4243708

Neuropathology and pathogenesis of mitochondrial diseases

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4243708

Identification of peptide:N-glycanase activity in mammalian-derived cultured cells

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4243708

Purification and enzymatic properties of peptide:N-glycanase from C3H mouse-derived L-929 fibroblast cells. Possible widespread occurrence of post-translational remodification of proteins by N-deglycosylation.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4243708

Demonstration of peptide:N-glycosidase F activity in endo-beta-N-acetylglucosaminidase F preparations

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4243708

Peptide:N-glycosidase activity found in the early embryos of Oryzias latipes (Medaka fish). The first demonstration of the occurrence of peptide:N-glycosidase in animal cells and its implication for the presence of a de-N-glycosylation system in liv

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4243708

Demonstration of a new amidase acting on glycopeptides

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4243708

Molecular identification and characterization of peptide: N-glycanase from Schizosaccharomyces pombe

3 June 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.22

Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.22

Hereditary sensory autonomic neuropathy caused by a mutation in dystonin.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.22

A frameshift mutation of ERLIN2 in recessive intellectual disability, motor dysfunction and multiple joint contractures

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.22

A novel neurodegenerative disease characterised by posterior column ataxia and pyramidal tract involvement maps to chromosome 8p12-8q12.1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.22

A founder haplotype for autosomal dominant sensory ataxia in Eastern Canada

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.22

A mutation in the RNF170 gene causes autosomal dominant sensory ataxia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.22

Clinical features and neuroradiological findings of mitochondrial pathology in six neonates

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4243708

A plant peptide: N-glycanase orthologue facilitates glycoprotein ER-associated degradation in yeast

26 November 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/24651605

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A cytoplasmic peptide: N-glycanase

1 reference

https://pubmed.ncbi.nlm.nih.gov/24651605

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/GIM.2014.22

1 reference

Dimensions Publication ID

1026369342

0 references

1 reference

1 reference

1 reference