(Q37593052)

21 August 2017

A new congenital disorder of glycosylation caused by a mutation in SSR4, the signal sequence receptor 4 protein of the TRAP complex (English)

1 reference

congenital disorder of glycosylation

21 August 2017

0 references

1 reference

1 reference

1 reference

3

1 reference

21 August 2017

8

1 reference

21 August 2017

Emily H Turner

5

0 references

Hudson H. Freeze

object named as

Hudson H Freeze

University of Washington Center for Mendelian Genomics

12

0 references

11

object named as

University of Washington Center for Mendelian Genomics

1 reference

21 August 2017

9

Deborah A Nickerson

1 reference

21 August 2017

10

Michael J Bamshad

1 reference

21 August 2017

4

Kati J Buckingham

1 reference

21 August 2017

6

Alexey Eroshkin

1 reference

21 August 2017

Marie Estelle Losfeld

1

object named as

Marie Estelle Losfeld

1 reference

21 August 2017

Bobby G Ng

2

1 reference

21 August 2017

Joshua D Smith

7

1 reference

21 August 2017

11 November 2013

1 reference

21 August 2017

Human Molecular Genetics

1 reference

21 August 2017

23

1 reference

21 August 2017

6

1 reference

21 August 2017

1602-1605

1 reference

describes a project that uses

21 August 2017

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3929095/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

cites work

Mutations in STT3A and STT3B cause two congenital disorders of glycosylation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3929095

Understanding human glycosylation disorders: biochemistry leads the charge

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3929095

A sensitive green fluorescent protein biomarker of N-glycosylation site occupancy

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3929095

Neurology of inherited glycosylation disorders

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3929095

Simultaneous induction of the four subunits of the TRAP complex by ER stress accelerates ER degradation

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3929095

The organization of engaged and quiescent translocons in the endoplasmic reticulum of mammalian cells

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3929095

Genomic organization of two novel genes on human Xq28: compact head to head arrangement of IDH gamma and TRAP delta is conserved in rat and mouse

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3929095

A tetrameric complex of membrane proteins in the endoplasmic reticulum

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3929095

Translocon-associated protein TRAP delta and a novel TRAP-like protein are coordinately expressed with pro-opiomelanocortin in Xenopus intermediate pituitary

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3929095

Novel genes underlying beta cell survival in metabolic stress

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3929095

Mechanisms and principles of N-linked protein glycosylation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3929095

DDOST mutations identified by whole-exome sequencing are implicated in congenital disorders of glycosylation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3929095

DAD1 is required for the function and the structural integrity of the oligosaccharyltransferase complex

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3929095

Mannose-6-phosphate: a regulator of LLO destruction.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3929095

Architecture of the Ribosome–Channel Complex Derived from Native Membranes

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3929095

Spectrum of mutations that cause distal arthrogryposis types 1 and 2B

3 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24218363

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/HMG/DDT550

1 reference

21 August 2017

1 reference

21 August 2017

PubMed publication ID

24218363

1 reference