(Q34349489)

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Molecular mechanisms leading to null-protein product from retinoschisin (RS1) signal-sequence mutants in X-linked retinoschisis (XLRS) disease

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scholarly article

1 reference

Europe PubMed Central

1 August 2017

Molecular mechanisms leading to null-protein product from retinoschisin (RS1) signal-sequence mutants in X-linked retinoschisis (XLRS) disease (English)

1 reference

Europe PubMed Central

1 August 2017

X-linked retinoschisis

1 reference

based on heuristic

inferred from title

author name string

Camasamudram Vijayasarathy

1

1 reference

Europe PubMed Central

1 August 2017

Ruifang Sui

2

1 reference

Europe PubMed Central

1 August 2017

Yong Zeng

3

1 reference

Europe PubMed Central

1 August 2017

Guoxing Yang

4

1 reference

Europe PubMed Central

1 August 2017

Fei Xu

5

1 reference

Europe PubMed Central

1 August 2017

Rafael C Caruso

6

1 reference

Europe PubMed Central

1 August 2017

Richard A Lewis

7

1 reference

Europe PubMed Central

1 August 2017

Lucia Ziccardi

8

1 reference

Europe PubMed Central

1 August 2017

Paul A Sieving

9

1 reference

Europe PubMed Central

1 August 2017

publication date

1 November 2010

1 reference

Europe PubMed Central

1 August 2017

1 reference

Europe PubMed Central

1 August 2017

31

1 reference

Europe PubMed Central

1 August 2017

11

1 reference

Europe PubMed Central

1 August 2017

1251-1260

1 reference

Europe PubMed Central

1 August 2017

Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991635

6 July 2018

Wild-type and missense mutants of retinoschisin co-assemble resulting in either intracellular retention or incorrect assembly of the functionally active octamer.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991635

6 July 2018

Null retinoschisin-protein expression from an RS1 c354del1-ins18 mutation causing progressive and severe XLRS in a cross-sectional family study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991635

6 July 2018

Intravitreal delivery of AAV8 retinoschisin results in cell type-specific gene expression and retinal rescue in the Rs1-KO mouse

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991635

6 July 2018

Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991635

6 July 2018

Retinoschisin, a new binding partner for L-type voltage-gated calcium channels in the retina

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991635

6 July 2018

Macular spectral-domain optical coherence tomography in patients with X linked retinoschisis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991635

6 July 2018

Synaptic pathology in retinoschisis knockout (Rs1-/y) mouse retina and modification by rAAV-Rs1 gene delivery

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991635

6 July 2018

A comprehensive clinical and biochemical functional study of a novel RPE65 hypomorphic mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991635

6 July 2018

The recognition and retrotranslocation of misfolded proteins from the endoplasmic reticulum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991635

6 July 2018

Retinoschisin (RS1), the protein encoded by the X-linked retinoschisis gene, is anchored to the surface of retinal photoreceptor and bipolar cells through its interactions with a Na/K ATPase-SARM1 complex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991635

6 July 2018

Clinical features of X linked juvenile retinoschisis in Chinese families associated with novel mutations in the RS1 gene.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991635

6 July 2018

Retinoschisin is a peripheral membrane protein with affinity for anionic phospholipids and affected by divalent cations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991635

6 July 2018

X-linked retinoschisis: an update

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991635

6 July 2018

Congenital X-linked retinoschisis classification system

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991635

6 July 2018

Identification and characterization of two mature isoforms of retinoschisin in murine retina

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991635

6 July 2018

Focus on molecules: retinoschisin (RS1).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991635

6 July 2018

Molecular pathology of X linked retinoschisis: mutations interfere with retinoschisin secretion and oligomerisation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991635

6 July 2018

Regulation of translation via mRNA structure in prokaryotes and eukaryotes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991635

6 July 2018

RS1, a discoidin domain-containing retinal cell adhesion protein associated with X-linked retinoschisis, exists as a novel disulfide-linked octamer.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991635

6 July 2018

Unanticipated antigens: translation initiation at CUG with leucine

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991635

6 July 2018

RS-1 Gene Delivery to an Adult Rs1h Knockout Mouse Model Restores ERG b-Wave with Reversal of the Electronegative Waveform of X-Linked Retinoschisis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991635

6 July 2018

Optical coherence tomography in the diagnosis of juvenile X-linked retinoschisis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991635

6 July 2018

X-linked retinoschisis: a clinical and molecular genetic review

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991635

6 July 2018

Protein degradation and protection against misfolded or damaged proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991635

6 July 2018

Defective Discoidin Domain Structure, Subunit Assembly, and Endoplasmic Reticulum Processing of Retinoschisin are Primary Mechanisms Responsible for X-linked Retinoschisis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991635

6 July 2018

Pre-mRNA splicing and human disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991635

6 July 2018

Intracellular retention of mutant retinoschisin is the pathological mechanism underlying X-linked retinoschisis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991635

6 July 2018

Emerging links between initiation of translation and human diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991635

6 July 2018

Juvenile retinoschisis: a model for molecular diagnostic testing of X-linked ophthalmic disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991635

6 July 2018

Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991635

6 July 2018

Initiation of translation in prokaryotes and eukaryotes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991635

6 July 2018

Identification of four novel mutations of the XLRS1 gene in Japanese patients with X-linked juvenile retinoschisis. Mutation in brief no. 234. Online

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991635

6 July 2018

Initiation of protein synthesis in mammalian cells with codons other than AUG and amino acids other than methionine

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991635

6 July 2018

Positional cloning of the gene associated with X-linked juvenile retinoschisis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991635

6 July 2018

GTP hydrolysis controls stringent selection of the AUG start codon during translation initiation in Saccharomyces cerevisiae

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991635

6 July 2018

The structure and function of proteins involved in mammalian pre-mRNA splicing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991635

6 July 2018

At least six nucleotides preceding the AUG initiator codon enhance translation in mammalian cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991635

6 July 2018

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991635

6 July 2018

Mutations at a Zn(II) finger motif in the yeast eIF-2 beta gene alter ribosomal start-site selection during the scanning process.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991635

6 July 2018

Structural features in eukaryotic mRNAs that modulate the initiation of translation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991635

6 July 2018

Exon skipping in purine nucleoside phosphorylase mRNA processing leading to severe immunodeficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991635

6 July 2018

Effect of late-stage therapy on disease progression in AAV-mediated rescue of photoreceptor cells in the retinoschisin-deficient mouse

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991635

27 October 2018

ERG variability in X-linked congenital retinoschisis patients with mutations in the RS1 gene and the diagnostic importance of fundus autofluorescence and OCT.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991635

27 October 2018

Retinoschisin gene therapy and natural history in the Rs1h-KO mouse: long-term rescue from retinal degeneration

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991635

27 October 2018

Coexpression and interaction of wild-type and missense RS1 mutants associated with X-linked retinoschisis: its relevance to gene therapy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991635

27 October 2018

Reduced synaptic vesicle density and aberrant synaptic localization caused by a splice site mutation in the Rs1h gene.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991635

27 October 2018

Retinoschisin expression and localization in rodent and human pineal and consequences of mouse RS1 gene knockout.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991635

27 October 2018

How initiation factors maximize the accuracy of tRNA selection in initiation of bacterial protein synthesis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991635

27 October 2018

A novel splicing mutation of the ATRX gene in ATR-X syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991635

27 October 2018

A comparison of ERG abnormalities in XLRS and XLCSNB.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991635

27 October 2018

Novel 473-bp deletion in XLRS1 gene in a Japanese family with X-linked juvenile retinoschisis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991635

27 October 2018

Analysis of photoreceptor function and inner retinal activity in juvenile X-linked retinoschisis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991635

27 October 2018

Mutations of the XLRS1 gene cause abnormalities of photoreceptor as well as inner retinal responses of the ERG.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991635

27 October 2018

Phenotypic expression of juvenile X-linked retinoschisis in Swedish families with different mutations in the XLRS1 gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/20809529

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical characteristics of 14 japanese patients with X-linked juvenile retinoschisis associated with XLRS1 mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/20809529

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A "G" to "A" mutation at position -1 of a 5' splice site in a late infantile form of Tay-Sachs disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/20809529

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical features in affected males with X-linked retinoschisis

1 reference

https://pubmed.ncbi.nlm.nih.gov/20809529

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Alternative pre-mRNA splicing of the sterol 27-hydroxylase gene (CYP 27) caused by a G to A mutation at the last nucleotide of exon 6 in a patient with cerebrotendinous xanthomatosis (CTX)

1 reference

https://pubmed.ncbi.nlm.nih.gov/20809529

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The natural history of X-linked retinoschisis

1 reference

https://pubmed.ncbi.nlm.nih.gov/20809529

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A Colombian family with X-linked juvenile retinoschisis with three affected females finding of a frameshift mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/20809529

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

X-linked retinoschisis: novel mutation in the initiation codon of the XLRS1 gene in a large family

1 reference

https://pubmed.ncbi.nlm.nih.gov/20809529

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1002/HUMU.21350

1 reference

Europe PubMed Central

1 August 2017

1 reference

Europe PubMed Central

1 August 2017

1 reference

Europe PubMed Central

1 August 2017

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