(Q34438544)

2 August 2017

NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy (English)

1 reference

disability affecting intellectual abilities

2 August 2017

0 references

intellectual disability

1 reference

based on heuristic

inferred from title

1 reference

Gozde Tugce Akgumus

6

0 references

Katsuhito Yasuno

object named as

Katsuhito Yasuno

13

0 references

Hudson H. Freeze

object named as

Hudson H Freeze

12

0 references

Kaya Bilguvar

14

object named as

Kaya Bilguvar

1 reference

2 August 2017

Ahmet Okay Caglayan

1

1 reference

2 August 2017

Sinan Comu

2

1 reference

2 August 2017

Jacob F Baranoski

3

1 reference

2 August 2017

Yesim Parman

4

1 reference

2 August 2017

Hande Kaymakçalan

5

1 reference

2 August 2017

Caner Caglar

7

1 reference

2 August 2017

Duygu Dolen

8

1 reference

2 August 2017

Emine Zeynep Erson-Omay

9

1 reference

2 August 2017

Akdes Serin Harmanci

10

1 reference

2 August 2017

Ketu Mishra-Gorur

11

1 reference

2 August 2017

Murat Gunel

15

1 reference

2 August 2017

9 September 2014

1 reference

European Journal of Medical Genetics

2 August 2017

1 reference

2 August 2017

58

1 reference

2 August 2017

39-43

1 reference

2 August 2017

1

1 reference

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

2 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4804755

Solving glycosylation disorders: fundamental approaches reveal complicated pathways

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4804755

Understanding human glycosylation disorders: biochemistry leads the charge

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4804755

Clinical application of exome sequencing in undiagnosed genetic conditions

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4804755

A review of the mammalian unfolded protein response.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4804755

Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4804755

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4804755

Endoplasmic reticulum stress in disorders of myelinating cells.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4804755

Cytoplasmic peptide:N-glycanase and catabolic pathway for free N-glycans in the cytosol

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4804755

Signal integration in the endoplasmic reticulum unfolded protein response

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4804755

Molecular genetics of hereditary sensory neuropathies

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4804755

Ngly1, a mouse gene encoding a deglycosylating enzyme implicated in proteasomal degradation: expression, genomic organization, and chromosomal mapping.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4804755

A role for N-glycanase in the cytosolic turnover of glycoproteins

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4804755

Ophthalmological abnormalities in children with congenital disorders of glycosylation type I.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4804755

10.1016/J.EJMG.2014.08.008

27 October 2018

Identifiers

DOI

1 reference

2 August 2017

1 reference

2 August 2017

1 reference