(Q33696100)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15090652%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

title

Apoptosis-inducing signal sequence mutation in carbonic anhydrase IV identified in patients with the RP17 form of retinitis pigmentosa (English)

1 reference

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27 December 2019

2

1 reference

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27 December 2019

Lisa Roberts

4

1 reference

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27 December 2019

8

Soraya Bardien

1 reference

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27 December 2019

author name string

George Rebello

1

1 reference

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27 December 2019

Alvera Vorster

3

1 reference

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27 December 2019

Liezle Ehrenreich

5

1 reference

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27 December 2019

Ekow Oppon

6

1 reference

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27 December 2019

Dumisani Gama

7

1 reference

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27 December 2019

Jacquie Greenberg

9

1 reference

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27 December 2019

Giuseppe Bonapace

10

1 reference

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27 December 2019

Abdul Waheed

11

1 reference

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27 December 2019

Gul N Shah

12

1 reference

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27 December 2019

William S Sly

13

1 reference

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27 December 2019

language of work or name

English

0 references

publication date

16 April 2004

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15090652%20AND%20SRC:MED&resulttype=core&format=json

Proceedings of the National Academy of Sciences of the United States of America

27 December 2019

published in

1 reference

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27 December 2019

volume

101

1 reference

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27 December 2019

issue

17

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27 December 2019

page(s)

6617-6622

1 reference

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Quality control in the endoplasmic reticulum protein factory

27 December 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=404094

Retinitis pigmentosa: genes, proteins and prospects

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=404094

For whom the bell tolls: protein quality control of the endoplasmic reticulum and the ubiquitin-proteasome connection

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=404094

Pharmacological chaperone-mediated in vivo folding and stabilization of the P23H-opsin mutant associated with autosomal dominant retinitis pigmentosa

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=404094

Chemical chaperones: a pharmacological strategy for disorders of protein folding and trafficking

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=404094

Orchestrating the unfolded protein response in health and disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=404094

The unfolded protein response in nutrient sensing and differentiation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=404094

Proteotoxicity in the endoplasmic reticulum: lessons from the Akita diabetic mouse

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=404094

Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13).

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=404094

ER quality control: towards an understanding at the molecular level

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=404094

Impairment of the ubiquitin-proteasome system by protein aggregation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=404094

Signal peptidase and oligosaccharyltransferase interact in a sequential and dependent manner within the endoplasmic reticulum

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=404094

Chemical chaperones mediate increased secretion of mutant alpha 1-antitrypsin (alpha 1-AT) Z: A potential pharmacological strategy for prevention of liver injury and emphysema in alpha 1-AT deficiency

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=404094

Refinement of the RP17 locus for autosomal dominant retinitis pigmentosa, construction of a YAC contig and investigation of the candidate gene retinal fascin

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=404094

Linkage analysis and comparative mapping of canine progressive rod-cone degeneration (prcd) establishes potential locus homology with retinitis pigmentosa (RP17) in humans

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=404094

Molecular basis of autosomal dominant neurohypophyseal diabetes insipidus. Cellular toxicity caused by the accumulation of mutant vasopressin precursors within the endoplasmic reticulum

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=404094

An eighth locus for autosomal dominant retinitis pigmentosa is linked to chromosome 17q

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=404094

High level transient expression of a chloramphenicol acetyl transferase gene by DEAE-dextran mediated DNA transfection coupled with a dimethyl sulfoxide or glycerol shock treatment.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=404094

High efficiency polyoma DNA transfection of chloroquine treated cells

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=404094

Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=404094

A new method for predicting signal sequence cleavage sites

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=404094

Localization of carbonic anhydrase IV in a specific capillary bed of the human eye

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=404094

Membrane-associated carbonic anhydrase from rat lung. Purification, characterization, tissue distribution, and comparison with carbonic anhydrase IVs of other mammals

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=404094

Efficient selection for high-expression transfectants with a novel eukaryotic vector

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=404094

Review of the folin phenol protein quantitation method of lowry, rosebrough, farr and randall

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=404094

Mechanism of endoplasmic reticulum retention of mutant vasopressin precursor caused by a signal peptide truncation associated with diabetes insipidus.

21 June 2018

1 reference

Crossref

https://api.crossref.org/works/10.1073%2FPNAS.0401529101

A rhodopsin mutant linked to autosomal dominant retinitis pigmentosa is prone to aggregate and interacts with the ubiquitin proteasome system

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1073%2FPNAS.0401529101

Dominant negative pathogenesis by mutant proinsulin in the Akita diabetic mouse

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1073%2FPNAS.0401529101

A common autoimmunity predisposing signal peptide variant of the cytotoxic T-lymphocyte antigen 4 results in inefficient glycosylation of the susceptibility allele

21 January 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=404094

30 October 2018

https://api.crossref.org/works/10.1073%2FPNAS.0401529101

Species-specific variation in signal peptide design. Implications for protein secretion in foreign hosts

21 January 2018

1 reference

12 December 2020

A simplified micromethod for the determination of carbonic anhydrase and its inhibitors

1 reference

12 December 2020

Inefficient membrane targeting, translocation, and proteolytic processing by signal peptidase of a mutant preproparathyroid hormone protein

1 reference

12 December 2020

Accelerated transport and maturation of lysosomal α–galactosidase A in Fabry lymphoblasts by an enzyme inhibitor

1 reference

12 December 2020

Refined mapping of the gene for autosomal dominant retinitis pigmentosa (RP17) on chromosome 17q22

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.0401529101

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15090652%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15090652%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

PubMed publication ID

15090652

1 reference