Research Group on Neurobiology and Molecular Physiopathology in Rare Diseases – NeuroFisER

Metabolism and Organic Damage Area

Physiopathology of Friedreich’s ataxia: Identification of new therapeutic targets that allow new treatments to be implemented

Develop new strategies for advanced gene therapy: CRISPR/Cas9 system and anti-miRNAs

Huntington’s disease: Use of nanobodies as a therapeutic tool for reduce mutant huntingtin levels and modify the course of the disease

Development of a new study model for CANVAS Syndrome (Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome): generation of iPSCs from skin biopsies of CANVAS patients , and their subsequent differentiation into sensory neurons

Effect of covid-19 infection on telomere length and its relationship with the evolution of idiopathic-type pulmonary fibrosis

Coordinatora
Dra. Pilar González Cabo
pilargc@uv.es; pilar.gonzalez-cabo@uv.es

RESEARCHERS
Leading, R4
Established, R3

Pilar González Cabo    

Recognised/Emerging, R2
First Stage, R1

Lorena Baquero Ansón

STAFF
Collaborating Researchers

Marta Roldán Lázaro

Nurse
Technicians
Administrative assistant
Publications
Persistent pulmonary fibrotic sequelae in patients with telomere shortening one year after severe COVID-19. Mulet A, González-Cabo P, Pallardó FV, Signes-Costa J. Archivos de Bronconeumologia. 2023 Nov 10:S0300-2896(23)00365-4. doi: 10.1016/j.arbres.2023.11.003. PMID: 37985282

CIBERER: Spanish national network for research on rare diseases: a highly productive collaborative initiative. Luque J, Mendes I, Gomez B, Morte B, de Heredia M, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch R, Fillat C, Perez-Jurado L, Montoliu L, Carracedo A, Millan J, Webb S, Palau F, Lapunzina P, Pallardo Calatayud F, CIBERER Network. Clinical Genetics. 2022 May;101(5-6):481-493. doi: 10.1111/cge.14113. PMID: 35060122

Frataxin deficit leads to reduced dynamics of growth cones in dorsal root ganglia neurons of Friedreich’s Ataxia YG8sR model: a multilinear algebra approach. Munoz Lasso D, Molla B, Saenz Gamboa J, Insuasty E, de la Iglesia Vaya M, Pook M, Pallardo F, Palau F, Gonzalez-Cabo P. Frontiers in Molecular Neuroscience. 2022 Jun 13;15:912780. doi: 10.3389/fnmol.2022.912780. PMID: 35769335

Therapeutic strategies targeting mitochondrial calcium signaling: a new hope for neurological diseases?. Rodríguez LR, Lapeña-Luzón T, Benetó N, Beltran-Beltran V, Pallardó FV, Gonzalez-Cabo P, Navarro JA. Antioxidants. 2022 Jan 15;11(1):165. doi: 10.3390/antiox11010165. PMID: 35052668

Cofilin and neurodegeneration: new functions for an old but gold protein. Lapena-Luzon T, Rodriguez L, Beltran-Beltran V, Beneto N, Pallardo F, Gonzalez-Cabo P. Brain Sciences. 2021 Jul 20;11(7):954. doi: 10.3390/brainsci11070954. PMID: 34356188

Friedreich Ataxia: current state-of-the-art, and future prospects for mitochondrial-focused therapies. Pallardo Calatayud F, Pagano G, Rodriguez Melguizo L, González Cabo P, Lyakhovich A, Trifuoggi M. Translational Research. 2021 Mar;229:135-141. doi: 10.1016/j.trsl.2020.08.009. PMID: 32841735

Role of adenosine receptors in rare neurodegenerative diseases with motor symptoms. Beltran-Beltran V, Beneto N, Lapena-Luzon T, Rodriguez LR, Pallardo FV, Gonzalez-Cabo P. Current Protein & Peptide Science. 2021 Dec 27;22(9):675-694. doi: 10.2174/1389203722666210910110126. PMID: 34514988

Projects
Reference: ACCI 2020
Title: Síndrome de CANVAS: diagnóstico precoz y modelo fisiopatológico mediante iPSC.
Funding body: Instituto de Salud Carlos III – Cofinanciado FEDER
Principal Investigator: Pilar González Cabo
Duration: 2021 – 2022
Total budget: 75.000 €
Reference: PID2020-115190RB-I00
Title: Relacionando cofilina, una proteína de unión a actina, con la desregulación del calcio: un enfoque de precisión para el tratamiento de la ataxia de Friedreich
Funding body: Ministerio de Ciencia e Innovación
Principal Investigator: Pilar González Cabo
Duration: 2021 – 2024
Total budget: 196.300 €
Reference: ACCI-2019-22
Title: Degradación de la huntingtina mediante ubiquibodies de camélidos
Funding body: CIBER de Enfermedades Raras (CIBERER-ISCIII)
Principal Investigator: Pilar González Cabo
Duration: 2020 – 2022
Total budget: 18.000 €
Reference: RTC2019-006825-1
Title: Potencial de la leriglitazona para el tratamiento de enfermedades asociadas a la acumulación de hierro, distrofias y enfermedades neuromusculares
Funding body: Ministerio de Ciencia e Innovación
Principal Investigator: Pilar González Cabo
Duration: 2020 – 2023
Total budget: 90.000 €
Reference: ACCI-CIBERER 2018
Title: Edición Génica del Gen FXN mediante el Sistema CRISPR/Cas9 en linfocitos de pacientes con ataxia de Friedreich
Funding body: CIBER de Enfermedades Raras (CIBERER-ISCIII)
Principal Investigator: Pilar González Cabo
Duration: 2019 – 2021
Total budget: 39.750 €
+ Info
Title: Papel de las membranas asociadas a retículo endoplasmático y mitocondria (MAMS) en la fisiopatología celular de la ataxia de Friedrich y su relevancia como diana terapéutica
Doctoral candidate: Robles Rodríguez, Laura
Director(s): Pallardo Calatayud, Federico; González Cabo, María Pilar
Date of the defense: 20/01/2023
University: Universitat de València