Portal de investigación
PROGRAMA TÉCNICO DE APOYO. MODALIDAD INFRAESTRUCTURA.
Datos básicos
- Código:
- PTA2016-12967-I
- Protocolo:
- PTA2016-12967-I
- EUDRACT:
- NCT:
- Centro:
- Dotación:
- 39.000,00 €
- Año de incio:
- 2018
- Año de finalización:
- 2020
Documentos
- No hay documentos
Participantes
Grupos
Financiadores - Promotores
Resultados del Ensayo Clínico
CPH-RP variants disrupt ciliogenesis of the retinal pigment epithelium: a novel cause of retinitis pigmentosa
Kalatzis, Vasiliki; (...); Perron, Muriel
Meeting Abstract. 2023
Application of CRISPR Tools for Variant Interpretation and Disease Modeling in Inherited Retinal Dystrophies
Fuster-Garcia, C; (...); Garcia-Garcia, G
Review. 10.3390/genes11050473. 2020
CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative.
Luque J; (...); Lapunzina P
Article. 10.1111/cge.14113. 2022
Concomitant mutations in inherited retinal dystrophies: why the reproductive and therapeutic counselling should be addressed cautiously.
Rodriguez-Munoz, Ana; (...); Millan, Jose
Article. 10.1097/IAE.0000000000003103. 2021
Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases
Calucho, M; (...); Tizzano, EF
Article. 10.1016/j.nmd.2018.01.003. 2018
Changes in lipid metabolism driven by steroid signalling modulate proteostasis in C. elegans.
Gomez-Escribano, Ana P.; (...); Vazquez-Manrique, Rafael P.
Article. 10.15252/embr.202255556. 2023
Deciphering complexity: TULP1 variants linked to an atypical retinal dystrophy phenotype.
Esteve-Garcia A; (...); Aguilera C
Article. 10.3389/fgene.2024.1352063. 2024
Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2
Blasco-Perez, Laura; (...); Tizzano, Eduardo F.
Article. 10.3390/ijms23158289. 2022
Diagnoses in HyperCKemia: study from classical aproach to the use of new technologies (NGS).
Marti, P; (...); Padilla, JV
Meeting Abstract. 2018
Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain.
Baviera-Munoz, Raquel; (...); Aller, Elena
Article. 10.1212/NXG.0000000000200038. 2022
Editorial: Inherited retinal dystrophies: a light at the end of the tunnel?
Perkins, Brian D.; (...); Millan, Jose M.
Editorial Material. 10.3389/fcell.2023.1301279. 2023
Establishment of a human iPSC line, IISHDOi004-A, from a patient with Usher syndrome associated with the mutation c.2276G > T; p.Cys759Phe in the USH2A gene
Zurita-Diaz, F; (...); Gallardo, ME
Article. 10.1016/j.scr.2018.08.002. 2018
Evaluation of machine learning models for the detection of familial predisposition in Meniere's disease
Roman-Naranjo, Pablo; (...); Lopez-Escamez, Antonio
Meeting Abstract. 2024
Exome sequencing identifies PEX6 mutations in three cases diagnosed with Retinitis Pigmentosa and hearing impairment
Garcia-Garcia, Gema; (...); Ayuso, Carmen
Article. 2020
Expanding the clinical and molecular heterogeneity of nonsyndromic inherited retinal dystrophies.
Rodríguez-Muñoz A; (...); Millán JM
Article. 10.1016/j.jmoldx.2020.01.003. 2020
Expanding the Genetic Landscape of Usher-Like Phenotypes.
Fuster-García C; (...); Millán JM
Article. 10.1167/iovs.19-27470. 2019
Exploring non-coding variants and evaluation of antisense oligonucleotides for splicing redirection in Usher syndrome.
Garcia-Bohorquez, Belen; (...); Millan, Jose M
Article. 10.1016/j.omtn.2024.102374. 2024
Functional assays of non-canonical splice-site variants in inherited retinal dystrophies genes.
Rodriguez-Munoz, Ana; (...); Garcia-Garcia, Gema
Article. 10.1038/s41598-021-03925-1. 2022
Generation of the First Human In Vitro Model for McArdle Disease Based on iPSC Technology
del Carmen Ortuno-Costela, Maria; (...); Esther Gallardo, Maria
Article. 10.3390/ijms232213964. 2022
Genetic diagnostic of inherited retinal dystrophies through clinical exome sequencing
Barberan-Martinez, Pilar; (...); Millan, Jose M.
Meeting Abstract. 2024
Genetic Screening of the Usher Syndrome in Cuba
Santana, EE; (...); Lantigua, A
Article. 10.3389/fgene.2019.00501. 2019
Genetic Testing for Rare Diseases
Millan, Jose M., Garcia-Garcia, Gema
Article. 10.3390/diagnostics12040809. 2022
Genetics, pathogenesis and therapeutic developments for Usher syndrome type 2
Stemerdink M; (...); Millan JM
Article. 10.1007/s00439-021-02324-w. 2021
Genotype-phenotype correlation in patients with Usher syndrome and pathogenic variants in MYO7A: implications for future clinical trials.
Galbis-Martínez L; (...); Ayuso C
Article. 10.1111/aos.14795. 2021
HIF-1 alpha stabilization reduces retinal degeneration in a mouse model of retinitis pigmentosa
Olivares-Gonzalez, L; (...); Rodrigo, R
Article. 10.1096/fj.201700985R. 2018
High-throughput sequencing for the molecular diagnosis of Usher syndrome reveals 42 novel mutations and consolidates CEP250 as Usher-like disease causative
Fuster-Garcia, C; (...); Millan, JM
Article. 10.1038/s41598-018-35085-0. 2018
Improving the Management of Patients with Hearing Loss by the Implementation of an NGS Panel in Clinical Practice.
Garcia-Garcia, Gema; (...); Aller, Elena
Article. 10.3390/genes11121467. 2020
Intravitreal administration of adalimumab delays retinal degeneration in rd10 mice.
Olivares-González L; (...); Rodrigo R
Article. 10.1096/fj.202000044RR. 2020
Lipid Oxidation at the Crossroads: Oxidative Stress and Neurodegeneration Explored in Caenorhabditis elegans
Tortajada-Perez, Julia; (...); Vazquez-Manrique, Rafael Pascual
Review. 10.3390/antiox14010078. 2025
Long-read sequencing for improving the characterization of rare inherited eye diseases
Rodilla, Cristina; (...); Ayuso, Carmen
Meeting Abstract. 2024
Macular retinal vessel density assessment of the superficial, deep plexus and choriocapillaris in patients with retinitis pigmentosa and in healthy individuals using SS-OCT Angiography
Valencia-Perez, C; (...); Millan, JM
Meeting Abstract. 2019
Metformin to treat Huntington disease: a pleiotropic drug against a multi-system disorder.
Trujillo-Del Río C; (...); Vázquez-Manrique RP
Article. 10.1016/j.mad.2022.111670. 2022
Metformin treatment reduces motor and neuropsychiatric phenotypes in the zQ175 mouse model of Huntington disease
Sanchis, A; (...); Vazquez-Manrique, RP
Article. 10.1038/s12276-019-0264-9. 2019
Micro-RNA regulation of the angiogenic response in the diabetic retina.
Campos-Borges HC; (...); Pinazo-Duran MD
Editorial Material. 10.1016/j.oftal.2019.09.003. 2020
miRNAs and Genes Involved in the Interplay between Ocular Hypertension and Primary Open-Angle Glaucoma. Oxidative Stress, Inflammation, and Apoptosis Networks
Raga-Cervera, J; (...); Zanon-Moreno, V
Article. 10.3390/jcm10112227. 2021
MODELING OF IDH2 GENE MUTATIONS IN THE CAENORHABDITIS ELEGANS ORGANISM. DEVELOPMENT OF A NEW STUDY MODEL
Gonzalez-Romero, E.; (...); Cervera-Zamora, J.
Meeting Abstract. 2021
New mutations found by Next-Generation Sequencing screening of Spanish patients with Nemaline Myopathy
Moreau-Le Lan, S; (...); Pedrola, L
Article. 10.1371/journal.pone.0207296. 2018
NUTRARET: Effect of 2-Year Nutraceutical Supplementation on Redox Status and Visual Function of Patients With Retinitis Pigmentosa: A Randomized, Double-Blind, Placebo-Controlled Trial
Olivares-Gonzalez, Lorena; (...); Rodrigo, Regina
Article. 10.3389/fnut.2022.847910. 2022
Outcomes of a Pilot Newborn Screening Program for Spinal Muscular Atrophy in the Valencian Community.
Berzal-Serrano, Alba; (...); Millan, Jose M
Article. 10.3390/ijns11010007. 2025
Oxidative Stress, a Crossroad between Rare Diseases and Neurodegeneration
Espinos, C; (...); Pallardo, FV
Review. 10.3390/antiox9040313. 2020
PCR-Based Strategy for Introducing CRISPR/Cas9 Machinery into Hematopoietic Cell Lines.
González-Romero E; (...); Vázquez-Manrique RP
Article. 10.3390/cancers15174263. 2023
Pilot study for the implementation of newborn screening for spinal muscular atrophy in Valencia
Berzal-Serrano, Alba; (...); Millan, Jose M.
Meeting Abstract. 10.2174/1871530323666230914122955. 2024
Prevalent ALMS1 Pathogenic Variants in Spanish Alström Patients.
Bea-Mascato B; (...); Valverde D
Article. 10.3390/genes12020282. 2021
Progress in the genetic diagnosis of inherited retinal dystrophies
Rodriguez-Munoz, A; (...); Jaijo, T
Meeting Abstract. 2018
Reactive Species in Huntington Disease: Are They Really the Radicals You Want to Catch?
Bono-Yagüe J; (...); Vázquez-Manrique RP
Review. 10.3390/antiox9070577. 2020
Redox Status in Retinitis Pigmentosa.
Olivares-González L; (...); Rodrigo R
Article. 10.1007/978-3-031-27681-1_65. 2023
Repair of the prevalent c.2299delG mutation in the USH2A gene using CRISPR/Cas9 nucleases
Fuster-Garcia, C; (...); Aller, E
Meeting Abstract. 2018
Spinocerebellar Ataxia 36 is a Frequent Cause of Hereditary Ataxia in Eastern Spain
Baviera-Munoz, Raquel; (...); Bataller, Luis
Article. 10.1002/mdc3.13740. 2023
STEROID HORMONE SIGNALING MAY REGULATE HOMEOSTASIS OF POLYQ-CONTAINING PROTEINS IN C. ELEGANS
Gomez-Escribano, A. P.; (...); Vazquez-Manrique, R.
Meeting Abstract. 10.1136/jnnp-2018-EHDN.26. 2018
STUB1 Mutations as Possible Genetic Modifiers in Spinocerebellar Ataxia Type 8.
Baviera-Munoz, Raquel; (...); Aller, Elena
Article. 10.1002/mds.29910. 2024
STUDY OF TRANSCRIPTIONAL DIFFERENCES BETWEEN THE IDH2 R140 AND R172 MUTATIONS BY MEANS OF MODELING IN THE ORGANISM CAENORHABDITIS ELEGANS
Gonzalez, Romero Elisa; (...); Cervera, Jose Vicente
Meeting Abstract. 2020
Synergistic activation of AMPK prevents from polyglutamine-induced toxicity in Caenorhabditis elegans.
Gómez-Escribano AP; (...); Vázquez-Manrique RP
Article. 10.1016/j.phrs.2020.105105. 2020
SYNERGISTIC COMBINATIONS OF METFORMIN AND SALICYLATE REDUCE POLYGLUTAMINE TOXICITY IN C. ELEGANS
Bono-Yague, Jose; (...); Vazquez-Manrique, Rafael
Meeting Abstract. 10.1136/jnnp-2018-EHDN.256. 2018
TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa.
Bocquet, Beatrice; (...); Kalatzis, Vasiliki
Article. 10.1172/jci.insight.169426. 2023
The importance of biochemical and genetic findings in the diagnosis of atypical Norrie disease
Rodriguez-Munoz, A; (...); Jaijo, T
Article. 10.1515/cclm-2017-0226. 2018
TRANSCRIPTOMICAL ANALYSIS AND MODELING IN C.ELEGANS OF THE IDH2 R140 R172 MUTATION
Gonzalez-Romero, E.; (...); Cervera-Zamora, J., V
Meeting Abstract. 2019
Uniparental Disomy of chromosome 16 as a cause of Primary Ciliary Dyskinesia
Carretero-Vilarroig, Lidon; (...); Jaijo, Teresa
Meeting Abstract. 2024
Unravelling the pathogenic role and genotype-phenotype correlation of the USH2A p.(Cys759Phe) variant among Spanish families
Perez-Carro, R; (...); Ayuso, C
Article. 10.1371/journal.pone.0199048. 2018
Updating the Genetic Landscape of Inherited Retinal Dystrophies
Bohorquez, Belen Garcia; (...); Millán JM
Article. 10.3389/fcell.2021.645600. 2021
USE OF CRISPR/CAS9 TECHNOLOGY TO MODIFY THE IDH2 GENE IN BOTH IN-VIVO AND IN-VITRO MODELS
Gonzalez Romero, E.; (...); Cervera, J., V
Meeting Abstract. 2018
USH2A is a Meissner's corpuscle protein necessary for normal vibration sensing in mice and humans.
Schwaller F; (...); Lewin GR
Article. 10.1038/s41593-020-00751-y. 2021
Usher Syndrome: Genetics of a Human Ciliopathy
Fuster-García C; (...); García-García G
Review. 10.3390/ijms22136723. 2021