Limited proteolysis differentially modulates the stability and subcellular localization of domains of RPGRIP1 that are distinctly affected by mutations in Leber's congenital amaurosis (Q24673292)

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English	Limited proteolysis differentially modulates the stability and subcellular localization of domains of RPGRIP1 that are distinctly affected by mutations in Leber's congenital amaurosis	scientific article

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scholarly article

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15800011%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

Limited proteolysis differentially modulates the stability and subcellular localization of domains of RPGRIP1 that are distinctly affected by mutations in Leber's congenital amaurosis (English)

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15800011%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

congenital disorder

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Paulo A. Ferreira

4

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10 January 2020

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Xinrong Lu

1

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10 January 2020

Mallikarjuna Guruju

2

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10 January 2020

John Oswald

3

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10 January 2020

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30 March 2005

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10 January 2020

Human Molecular Genetics

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10 January 2020

14

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10 January 2020

10

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10 January 2020

1327-1340

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10 January 2020

Identification of novel murine- and human-specific RPGRIP1 splice variants with distinct expression profiles and subcellular localization

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1769350

7 April 2017

RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1769350

7 April 2017

Proteolytic cleavage of MLL generates a complex of N- and C-terminal fragments that confers protein stability and subnuclear localization

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1769350

7 April 2017

Species-specific subcellular localization of RPGR and RPGRIP isoforms: implications for the phenotypic variability of congenital retinopathies among species

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1769350

7 April 2017

A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1769350

7 April 2017

Null RPGRIP1 alleles in patients with Leber congenital amaurosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1769350

7 April 2017

Catalysis of guanine nucleotide exchange on Ran by the mitotic regulator RCC1

1 reference

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7 April 2017

Mechanical stimuli induce cleavage and nuclear translocation of the polycystin-1 C terminus

1 reference

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7 April 2017

Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1769350

7 April 2017

Retinitis pigmentosa GTPase regulator (RPGRr)-interacting protein is stably associated with the photoreceptor ciliary axoneme and anchors RPGR to the connecting cilium

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1769350

7 April 2017

The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1769350

7 April 2017

Biochemical characterization and subcellular localization of the mouse retinitis pigmentosa GTPase regulator (mRpgr)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1769350

7 April 2017

Formation of neuronal intranuclear inclusions underlies the neurological dysfunction in mice transgenic for the HD mutation

1 reference

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7 April 2017

Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1769350

7 April 2017

A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1769350

7 April 2017

RIP-ed and ready to dance: new mechanisms for polycystin-1 signaling

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1769350

28 September 2017

An overview of Leber congenital amaurosis: a model to understand human retinal development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1769350

28 September 2017

Novel RPGR mutations with distinct retinitis pigmentosa phenotypes in French-Canadian families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1769350

28 September 2017

RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1769350

28 September 2017

Mammalian expression vectors for epitope tag fusion proteins that are toxic in E. coli

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1769350

28 September 2017

Molecular genetics of Leber congenital amaurosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1769350

28 September 2017

X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1769350

28 September 2017

Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis.

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1769350

28 September 2017

Nuclear localization and dominant-negative suppression by a mutant SKCa3 N-terminal channel fragment identified in a patient with schizophrenia.

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28 September 2017

Chemical genetics: ligand-based discovery of gene function

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28 September 2017

Frontiers in chemical genetics

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28 September 2017

Identification of a novel protein interacting with RPGR.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1769350

28 September 2017

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28 September 2017

Dominant and digenic mutations in the peripherin/RDS and ROM1 genes in retinitis pigmentosa.

1 reference

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28 September 2017

Retinitis pigmentosa and allied diseases. Implications of genetic heterogeneity.

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28 September 2017

Clinical and genetic heterogeneity in retinitis pigmentosa

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28 September 2017

Dissection of a nuclear localization signal

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30 May 2018

The cyclophilin-like domain mediates the association of Ran-binding protein 2 with subunits of the 19 S regulatory complex of the proteasome.

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19 June 2018

Clinical and immunohistochemical evidence for an X linked retinitis pigmentosa syndrome with recurrent infections and hearing loss in association with an RPGR mutation

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28 November 2018

RPGRIP1s with distinct neuronal localization and biochemical properties associate selectively with RanBP2 in amacrine neurons

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28 November 2018

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28 November 2018

Mutations in the RPGR gene cause X-linked cone dystrophy

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28 November 2018

Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa

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28 November 2018

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Molecular genetics of retinitis pigmentosa

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A CRX null mutation is associated with both Leber congenital amaurosis and a normal ocular phenotype

1 reference

https://pubmed.ncbi.nlm.nih.gov/15800011

12 December 2020

based on heuristic

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Characterization of RanBP2-associated molecular components in neuroretina

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https://pubmed.ncbi.nlm.nih.gov/15800011

12 December 2020

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Isolation of retinal proteins that interact with retinitis pigmentosa GTPase regulator by interaction trap screen in yeast

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https://pubmed.ncbi.nlm.nih.gov/15800011

12 December 2020

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inferred from PubMed ID database lookup

Identifiers

10.1093/HMG/DDI143

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10 January 2020

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10 January 2020

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10 January 2020

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