Marina Riera

Marina Riera
ADN Institut

BSc, MSc, PhD

About

70
Publications
2,185
Reads
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274
Citations
Additional affiliations
December 2019 - present
ADN Institut
Position
  • Genetic counselor
November 2017 - March 2018
Columbia University
Position
  • Researcher
September 2014 - June 2019
Eye Microsurgery Institute
Position
  • PostDoc Position

Publications

Publications (70)
Article
Full-text available
Incomplete achromatopsia (ACHM) is a disorder in which there is function defect of cone photoreceptors in the retina and individuals with such disease retain residual color vision. Here, we have generated an induced pluripotent stem cell (iPSC) line carrying a homozygous mutation in the PDE6C gene, already related with this vision disorder. Skin fi...
Article
Full-text available
Best disease, also known as Best vitelliform macular dystrophy, is an autosomal dominant form of macular degeneration. Here, we have generated an induced pluripotent stem cell (iPSC) line derived from a Best disease patient carrying a new dominant mutation in the BEST1 gene. Skin fibroblasts were reprogrammed to iPSCs by the non-integrative Sendai-...
Article
Purpose This study aimed to identify the underlying genetic cause(s) of inherited retinal dystrophy (IRD) in 12 families of Kuwaiti origin affected by macular dystrophy and four Spanish patients affected by retinitis pigmentosa (RP). Methods Clinical diagnoses were based on standard ophthalmic evaluations (best-corrected visual acuity, retinograph...
Article
Full-text available
Retinitis pigmentosa (RP) is an inherited retinal dystrophy characterized by the progressive degeneration of photoreceptors. In the present study, we have generated an induced pluripotent stem cell (iPSC) line derived from a RP patient with a dominant mutation in the RHO gene, responsible for the synthesis of rhodopsin. The reprogramming of these i...
Article
Full-text available
A human induced pluripotent stem cell (iPSC) line was generated from a female patient affected by autosomal recessive retinitis pigmentosa with two mutations in the USH2A gene: c.2209C > T (p.Arg737Ter) and c.8693A > C (p.Tyr2898Ser). Skin fibroblasts were infected with Sendai virus containing the Yamanaka factors and the resulting cells were fully...
Article
Full-text available
Retinitis pigmentosa (RP) refers to a clinical and genetic heterogeneous group of inherited retinal degenerations characterized by photoreceptor cell death. In this work, we have generated an induced pluripotent stem cell (iPSC) line derived from a RP patient with two heterozygous mutations in the cGMP-specific phosphodiesterase 6A alpha subunit (P...
Article
Full-text available
Recessive Stargardt disease (STGD1) is an autosomal recessive retinal dystrophy, caused by mutations in the retina-specific ATP-binding cassette transporter (ABCA4) gene, which plays a role as a retinaldehyde flippase in the photoreceptor outer segments. In this work, two human induced pluripotent stem cell (iPSC) lines were generated from STGD1 pa...
Article
Full-text available
The receptor tyrosine kinase Mer is expressed by retinal pigment epithelial (RPE) cells and participates in photoreceptor outer-segment phagocytosis, a process enabling membrane renewal. Mutations in the gene encoding MERTK cause blinding retinitis pigmentosa in humans. Targeted Mertk disruption in mice causes defective RPE-mediated phagocytosis of...
Data
Table S1. List of genes included in the MA panel.
Article
Full-text available
Background Microphthalmia and anophthalmia (MA) are congenital eye abnormalities that show an extremely high clinical and genetic complexity. In this study, we evaluated the implementation of whole exome sequencing (WES) for the genetic analysis of MA patients. This approach was used to investigate three unrelated families in which previous single‐...
Article
Full-text available
Inherited retinal dystrophies (IRD) comprise a wide group of clinically and genetically complex diseases that progressively affect the retina. Over recent years, the development of next-generation sequencing (NGS) methods has transformed our ability to diagnose heterogeneous diseases. In this work, we have evaluated the implementation of whole exom...
Article
Full-text available
Retinal dystrophies (RD) are major causes of familial blindness and are characterized by progressive dysfunction of photoreceptor and/or retinal pigment epithelium (RPE) cells. In this study, we aimed to evaluate and compare the therapeutic effects of two pluripotent stem cell (PSC)-based therapies. We differentiated RPE from human embryonic stem c...
Article
Full-text available
The function of CERKL (CERamide Kinase Like), a causative gene of retinitis pigmentosa and cone-rod dystrophy, still awaits characterization. To approach its cellular role we have investigated the subcellular localization and interaction partners of the full length CERKL isoform, CERKLa of 532 amino acids, in different cell lines, including a photo...
Article
Full-text available
The human CERKL gene is responsible for common and severe forms of retinal dystrophies. Despite intense in vitro studies at the molecular and cellular level and in vivo analyses of the retina of murine knockout models, CERKL function remains unknown. In this study, we aimed to approach the developmental and functional features of cerkl in Danio rer...
Data
Syntenic organization of the CERKL genomic region. Schematic view of the structure and gene organization of the 1.8 Mb genomic locus encompassing CERKL in Homo sapiens (Hsa), Xenopus tropicalis (Xtr) and Danio rerio (Dre). The discontinuous lines in the Xenopus locus represent the end of the scaffold. Conserved genes are shown in color, while empty...
Data
Conservation of CERKL across different species. Accession numbers for the amino acid sequence of each species are: NP_963842, human (Homo sapiens); XP_002799006, macaque (Macaca mulatta); XP_002712274, rabbit (Oryctolagus cuniculus); NP_001041641, mouse (Mus musculus); XP_002932061, frog (Xenopus tropicalis), XP_421973, chicken (Gallus gallus); NP_...
Data
Validation of cerkl morpholinos. Transcriptional products obtained with the following sets of primers: (A) exons 3-5 and 11-13 for acMO samples, and (B) exons 8-10 and 11-13 for doMO samples. The comparable decrease in band intensity suggests transcript depletion in both cerkl morphants. (TIF)
Data
Zebrafish RNA-seq data. The reported RNA-seq data showing tissue resource, accession number and name of the study are indicated. (DOCX)
Data
Primer sequences used for gene expression, cloning and in situ hybridization. The sequences of all the primers used are shown. (DOCX)
Article
In order to approach the function of the retinal dystrophy CERKL gene we generated a novel knockout mouse model by cre-mediated targeted deletion of the Cerkl first exon and proximal promoter. The excised genomic region (2.3kb) encompassed the first Cerkl exon, upstream sequences including the proximal promoter and the initial segment of the first...
Article
To shed light on the pathogenicity of the mutations in the retinitis pigmentosa gene CERKL, the authors aimed to characterize its transcriptional repertoire and focused on the use of distinct promoters and alternative splicing in human and mouse tissues. In silico genomic and transcriptomic computational customized analysis, combined with experimen...
Article
Full-text available
Fast and efficient high-throughput techniques are essential for the molecular diagnosis of highly heterogeneous hereditary diseases, such as retinitis pigmentosa (RP). We had previously approached RP genetic testing by devising a chip based on co-segregation analysis for the autosomal recessive forms. In this study, we aimed to design a diagnostic...
Article
A large family with 11 males and 2 females with X-linked retinitis pigmentosa (XLRP) was analyzed in search of pathologic mutations. Of the two major XLRP genes, RPGR was analyzed by SNP cosegregation and RP2 was directly screened for mutations. The pathogenicity of a new variant was assessed in silico, in vivo, and in vitro. The results of cosegre...

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