Apoptosis-inducing signal sequence mutation in carbonic anhydrase IV identified in patients with the RP17 form of retinitis pigmentosa. (Q33696100)

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27 December 2019

title

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

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2

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Lisa Roberts

4

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Soraya Bardien

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author name string

George Rebello

1

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Alvera Vorster

3

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Liezle Ehrenreich

5

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Ekow Oppon

6

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Dumisani Gama

7

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Jacquie Greenberg

9

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Giuseppe Bonapace

10

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Abdul Waheed

11

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Gul N Shah

12

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William S Sly

13

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language of work or name

English

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publication date

16 April 2004

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

27 December 2019

published in

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volume

101

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issue

17

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page(s)

6617-6622

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Quality control in the endoplasmic reticulum protein factory

27 December 2019

cites work

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Retinitis pigmentosa: genes, proteins and prospects

21 June 2018

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

21 June 2018

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

21 June 2018

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

21 June 2018

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Orchestrating the unfolded protein response in health and disease

21 June 2018

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The unfolded protein response in nutrient sensing and differentiation

21 June 2018

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

21 June 2018

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

21 June 2018

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ER quality control: towards an understanding at the molecular level

21 June 2018

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Impairment of the ubiquitin-proteasome system by protein aggregation

21 June 2018

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

21 June 2018

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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

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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

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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

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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

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

21 June 2018

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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

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High efficiency polyoma DNA transfection of chloroquine treated cells

21 June 2018

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

21 June 2018

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A new method for predicting signal sequence cleavage sites

21 June 2018

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

21 June 2018

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

21 June 2018

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

21 June 2018

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

21 June 2018

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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

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Crossref

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

Dominant negative pathogenesis by mutant proinsulin in the Akita diabetic mouse

21 January 2018

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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

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30 October 2018

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

21 January 2018

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12 December 2020

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

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12 December 2020

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

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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

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27 December 2019

0 references

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27 December 2019

PubMed publication ID

15090652

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