Altered aggregation properties of mutant gamma-crystallins cause inherited cataract (Q28589540)

GOA release 2020-03-11

11

Christopher M. Dobson

1 reference

31 January 2017

Jochen Graw

9

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Norman Klopp

7

object named as

Norman Klopp

1 reference

31 January 2017

Aileen Sandilands

1

1 reference

31 January 2017

Aileen M. Hutcheson

2

1 reference

31 January 2017

Heather A. Long

3

1 reference

31 January 2017

Alan R. Prescott

4

1 reference

31 January 2017

Gijs Vrensen

5

1 reference

31 January 2017

Jana Löster

6

1 reference

31 January 2017

Raimund B. Lutz

8

1 reference

31 January 2017

Shigeo Masaki

10

1 reference

31 January 2017

Cait E. MacPhee

12

1 reference

31 January 2017

Roy A. Quinlan

Novel mutations in the gamma-crystallin genes cause autosomal dominant congenital cataracts

13

1 reference

31 January 2017

language of work or name

English

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publication date

15 November 2002

1 reference

31 January 2017

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31 January 2017

21

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31 January 2017

22

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31 January 2017

6005–6014

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31 January 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137201

Naturally secreted oligomers of amyloid beta protein potently inhibit hippocampal long-term potentiation in vivo

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137201

Crystal cataracts: human genetic cataract caused by protein crystallization

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137201

Link between a novel human gammaD-crystallin allele and a unique cataract phenotype explained by protein crystallography

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137201

The gamma-crystallins and human cataracts: a puzzle made clearer

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137201

Prox1 function is crucial for mouse lens-fibre elongation

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137201

AIM1, a novel non-lens member of the betagamma-crystallin superfamily, is associated with the control of tumorigenicity in human malignant melanoma

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137201

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

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137201

A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137201

Inherent toxicity of aggregates implies a common mechanism for protein misfolding diseases

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137201

Aggregation of huntingtin in neuronal intranuclear inclusions and dystrophic neurites in brain

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137201

Alpha-crystallin can function as a molecular chaperone

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137201

Sp1 and TAFII130 transcriptional activity disrupted in early Huntington's disease

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137201

Huntingtin is present in the nucleus, interacts with the transcriptional corepressor C-terminal binding protein, and represses transcription

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137201

Identities of sequestered proteins in aggregates from cells with induced polyglutamine expression

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137201

Pathogenesis, diagnosis and treatment of systemic amyloidosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137201

Cataract--a global perspective: output, outcome and outlay

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137201

Mouse models of congenital cataract

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137201

The cardiomyopathy and lens cataract mutation in alphaB-crystallin alters its protein structure, chaperone activity, and interaction with intermediate filaments in vitro.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137201

Intermediate filament interactions can be altered by HSP27 and alphaB-crystallin

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137201

Aggregation and Motor Neuron Toxicity of an ALS-Linked SOD1 Mutant Independent from Wild-Type SOD1

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137201

Cloning and tissue expression of the mouse ortholog of AIM1, a betagamma-crystallin superfamily member

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137201

A role for destabilizing amino acid replacements in light-chain amyloidosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137201

Chaperone activity of alpha-crystallins modulates intermediate filament assembly.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137201

In vitro studies on the assembly properties of the lens proteins CP49, CP115: coassembly with alpha-crystallin but not with vimentin

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137201

Vimentin and CP49/filensin form distinct networks in the lens which are independently modulated during lens fibre cell differentiation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137201

Evolution of CuZn superoxide dismutase and the Greek key beta-barrel structural motif

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137201

Ultrastructural localization of alpha A-crystallin to the bovine lens fiber cell cytoskeleton

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137201

Genetic Aspects of Amyloidosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137201

An improved Congo red method for amyloid

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137201

Heat shock protein 27 prevents cellular polyglutamine toxicity and suppresses the increase of reactive oxygen species caused by huntingtin

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137201

The most pathogenic transthyretin variant, L55P, forms amyloid fibrils under acidic conditions and protofilaments under physiological conditions

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137201

Changes in the nucleolar and coiled body compartments precede lamina and chromatin reorganization during fibre cell denucleation in the bovine lens.

3 June 2018

1 reference

https://api.crossref.org/works/10.1093%2FEMBOJ%2FCDF609

The molecular chaperone, alpha-crystallin, inhibits amyloid formation by apolipoprotein C-II.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FEMBOJ%2FCDF609

Three murine cataract mutants (Cat2) are defective in different gamma-crystallin genes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FEMBOJ%2FCDF609

Highly sensitive diagnosis of amyloid and various amyloid syndromes using Congo red fluorescence

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FEMBOJ%2FCDF609

Amyloid-like inclusions in Huntington's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FEMBOJ%2FCDF609

The molecular chaperone alphaB-crystallin enhances amyloid beta neurotoxicity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FEMBOJ%2FCDF609

Expanded polyglutamine protein forms nuclear inclusions and causes neural degeneration in Drosophila.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FEMBOJ%2FCDF609

Up-regulation of novel intermediate filament proteins in primary fiber cells: an indicator of all vertebrate lens fiber differentiation?

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137201

Ectopic expression of alpha B-crystallin in Chinese hamster ovary cells suggests a nuclear role for this protein

27 November 2018

1 reference

https://api.crossref.org/works/10.1093%2FEMBOJ%2FCDF609

Evidence for the extralenticular expression of members of the β-crystallin gene family in the chick and a comparison with δ-crystallin during differentiation and transdifferentiation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FEMBOJ%2FCDF609

[18] Quantification of β-sheet amyloid fibril structures with thioflavin T

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FEMBOJ%2FCDF609

Nuclear inclusions in glutamine repeat disorders: are they pernicious, coincidental, or beneficial?

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FEMBOJ%2FCDF609

Characterization of a 1-bp deletion in the gammaE-crystallin gene leading to a nuclear and zonular cataract in the mouse

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/12426373

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/EMBOJ/CDF609

1 reference

4002411

4002411

1 reference

1 reference

1 reference