Physiology and pathology of the functional relationship betw

Summary

Chloride is the most abundant anion in organisms. The plasma-membrane chloride channels of the CLC and LRRC8 family are important for various physiological functions, such as regulation of nerve- and muscle-cell excitability, both in terms of cell-volume regulation and transepithelial transport. The physiological roles of various chloride channels are illustrated in human hereditary diseases caused by mutations in the genes or auxiliary subunits which regulate their functions. This group’s aim is therefore to try to understand chloride-channel regulation in order to provide therapeutic solutions to patients affected by this. The group has a multidisciplinary approach, applying imaging methods, electrophysiology and biochemistry in mice and zebrafish models.

76 Publications

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Strategic Lines

Selected Publications

MAYAYO VALLVERDU,C;FERIGLE BURGADA,L;VECINO PEREZ,M;Lara,J;NUNES MARTINEZ,V;Estevez Povedano,R, Characterization of an MLC patient carrying two MLC1 variants showing radiological improvement, Brain Disord, 2023;11100079-doi:10.1016/j.dscb.2023.100079
Wang,BB;Xu,H;Isenmann,S;Huang,C;Elorza Vidal,X;Rychkov,GY;Estévez,R et al, Ubr1-induced selective endophagy/autophagy protects against the endosomal and Ca(2+)-induced proteostasis disease stress., Cell. Mol. Life Sci., 2022;79(3):167-167, doi:10.1007/s00018-022-04191-8
Pla Casillanis,A;Ferigle,L;Alonso Gardón,M;Xicoy Espaulella,E;Errasti Murugarren,E;Marazziti,D;Estévez,R, GPR37 Receptors and Megalencephalic Leukoencephalopathy with Subcortical Cysts., Int. J. Mol. Sci., 2022;23(10):doi:10.3390/ijms23105528
Formaggio,F;Fazzina,M;Estévez,R;Caprini,M;Ferroni,S, Dynamic expression of homeostatic ion channels in differentiated cortical astrocytes in vitro., Pflugers Arch., 2022;474(2):243-260, doi:10.1007/s00424-021-02627-x
Alonso Gardon M, Elorza Vidal X, Castellanos A, La Sala G, Armand Ugon M, Gilbert A, Di Pietro C, Pla Casillanis A, Ciruela F, Gasull X, Nunes V, Martinez A, Schulte U, Cohen Salmon M, Marazziti D, Estevez R. Identification of the GlialCAM interactome: the G protein-coupled receptors GPRC5B and GPR37L1 modulate megalencephalic leukoencephalopathy proteins. Hum. Mol. Genet. 2021;30(17):1649-1665. doi:10.1093/hmg/ddab155.

Selected Projects

21CEE001. A Human Neural Platform for Assaying Antigen-Antibody Interactions for
Autoimmune Encephalitis. COMISSIÓ EUROPEA. Budget: 150.000€. 2021-2023. PI: CONSIGLIO, ANTONELLA.
LCX21001 . Characterization at the single-cell level of the neuronal response to neuroinflammatory signaling using an in-vitro co-culture system in the context of Parkinson’s disease. FUNDACIÓ "LA CAIXA" . Budget: 115.092€. 2021-2024. PI: CONSIGLIO, ANTONELLA.
21MAR008. Developing patient-tailored therapeutic candidates for rare genetic forms of pediatric parkinsonism. Fundació La Marató de TV3 . Budget: 102.000€. 2021-2024. PI: CONSIGLIO, ANTONELLA.
PNJ21011 . Colchine to prevent a-synuclein accumulation. INDENA S.L. Budget: 40.000€. 2021- . PI: CONSIGLIO, ANTONELLA.

Technology transfer

More information

In 2019, togheter with Dr. Raya, Antonella Consiglio received the "City of Barcelona Award" to the life sciences.

2021:
- ICREA Academy Award. 1 Jan 2020 - 31 Dec 2024; PI: Antonella Consiglio
- Premio de investigación Merck: "“Terapia génica con células madre derivadas de tejido adiposo para la obesidad y enfermedades metabólicas asociadas”. PI: Laura Herrero Colaboradores: Antonella Consiglio (IDIBELL-IBUB) y Núria Casals (UIC)