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Células madre y terapia celular

Líneas de investigación

Generación de modelos de enfermedades basados en células madre humanas.
Ingeniería de tejidos, medicina regenerativa.
Terapias Avanzadas: Terapia celular.

 

Foto grupo

Actividades del grupo:

Generación de modelos de enfermedades basados en células madre humanas. La generación de modelos celulares fisiológicos y fidedignos de enfermedades humanas permite incrementar el conocimiento de la etiología y patología de diversas enfermedades, especialmente en aquellas enfermedades donde los modelos animales no reflejan el fenotipo observado en los pacientes. Dichos modelos celulares proporcionan una herramienta fundamental donde llevar a cabo el cribado y testado de fármacos que puedan curar o al menos ralentizar el desarrollo de la enfermedad.

Hemos generado un modelo experimental de lipodistrofia asociada al gen LMNA que recapitula fielmente los fenotipos observados en pacientes con lipodistrofia asociada a dicho gen, ya sean de origen genético y/o adquirido. Dicho modelo nos ha permitido identificar el mecanismo por el que se origina la alteración en el proceso de adipogénesis asociado a esta enfermedad.

Ingeniería de tejidos, medicina regenerativa.El laboratorio cuenta con varios proyectos dirigidos a la evaluación y optimización de nuevos armazones o scaffolds para su utilización en la generación de cartílago a partir de células madre autólogas.

Terapias Avanzadas: Terapia celular. Lideramos un ensayo clínico piloto multidisciplinar, financiado por el Ministerio de Sanidad y Política Social, enfocado a demostrar la seguridad y la eficacia de las células madre mesenquimales en regeneración ósea de pacientes pediátricos.

En dicho proyecto participan los servicios de Pediatría, Genética Clínica y Dismorfología e Inmunología del Hospital Universitario Cruces y el Servicio de Pediatría del Hospital Universitario de Getafe (Madrid).

Coordinador/a del grupo



Miembros del grupo

  Natividad Alcorta Sevillano
 
  |   845254
  Blanca Gener Querol
 
 
  Arantza Infante Martínez
 
  |   845254
  Iratxe Macias García
 
  |   845254

Publicaciones del grupo

Infante A,Alcorta N,Macias I,Rodriguez CI. Educating EVs to Improve Bone Regeneration: Getting Closer to the Clinic. Int J Mol Sci. 2022. 23. (3):1865. IF:5,923. (1).

Mustafa N,Mitxelena J,Infante A,Zenarruzabeitia O,Eriz A,Iglesias A et al. E2f2 Attenuates Apoptosis of Activated T Lymphocytes and Protects from Immune-Mediated Injury through Repression of Fas and FasL. Int J Mol Sci. 2022. 23. (1):311. IF:5,923. (1).

Nevado J,Garcia S,Palomares M,Vallespin E,Guillen E,Rosell J et al. Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals. Front. Genet. 2022. 13. IF:4,599. (2).

Infante A,Cabodevilla L,Gener B,Rodriguez CI. Circulating TGF-beta Pathway in Osteogenesis Imperfecta Pediatric Patients Subjected to MSCs-Based Cell Therapy. Front Cell Dev Biol. 2022. 10. 830928. IF:6,684. (1).

Bayat A,de Valles G,Pendziwiat M,Knaus A,Alt K,Biamino E et al. PIGN encephalopathy: Characterizing the epileptology. Epilepsia. 2022. 63. (4):p. 974-991. IF:5,866. (1).

Infante A, Gener B, Vazquez M, Olivares N, Arrieta A, Grau G et al. Reiterative infusions of MSCs improve pediatric osteogenesis imperfecta eliciting a pro-osteogenic paracrine response: TERCELOI clinical trial. Clin Transl Med. 2021; 11(1): 265-265. DOI:10.1002/ctm2.265.

Tarilonte M, Ramos P, Moya J, Fernandez Sanz G, Blanco Kelly F, Swafiri ST et al. Activation of cryptic donor splice sites by non-coding and coding PAX6 variants contributes to congenital aniridia. J Med Genet. 2021; 59(5): 428-437. DOI:10.1136/jmedgenet-2020-106932.

Gil Martinez J, Macias I, Unione L, Bernardo Seisdedos G, Lopitz Otsoa F, Fernandez Ramos D et al. Therapeutic Targeting of Fumaryl Acetoacetate Hydrolase in Hereditary Tyrosinemia Type I. Int J Mol Sci. 2021; 22(4). DOI:10.3390/ijms22041789.

Lopes LR, Garcia Hernandez S, Lorenzini M, Futema M, Chumakova O, Zateyshchikov D et al. Alpha-protein kinase 3 (ALPK3)-truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy. Eur Heart J. 2021; 42(32): 3063-NA. DOI:10.1093/eurheartj/ehab424.

Macias I, Alcorta Sevillano N, Infante A, Rodriguez CI. Cutting Edge Endogenous Promoting and Exogenous Driven Strategies for Bone Regeneration. Int J Mol Sci. 2021; 22(14). DOI:10.3390/ijms22147724.

Stephens M, Lopez Linares K, Aldazabal J, Macias I, Ortuzar N, Bengoetxea H et al. Murine femur micro-computed tomography and biomechanical datasets for an ovariectomy-induced osteoporosis model. Sci Data. 2021; 8(1): 240-240. DOI:10.1038/s41597-021-01012-8.

Mustafa N, Infante A, Zenarruzabeitia O, Mitxelena J, Iglesias Ara A, Zubiaga AM. E2F2 protects activated T-lymphocytes from apoptosis through repression of Fas/FasL-dependent mechanisms. FEBS Open Bio. 2021; 11: 457-458

Infante A, Rodriguez CI. Cell and Cell-Free Therapies to Counteract Human Premature and Physiological Aging: MSCs Come to Light. J Pers Med. 2021; 11(10). DOI:10.3390/jpm11101043.

Gil Martinez J, Macias I, Unione L, Bernardo Seisdedos G, Ramos DF, Lopitz Otsoa F et al. PHARMACOLOGICAL CHAPERONES AS A NOVEL THERAPY AGAINST TYROSINEMIA TYPE I. Hepatology. 2021; 74: 731-732

Alcorta N,Macias I,Infante A,I. Deciphering the Relevance of Bone ECM Signaling. Cells. 2020. 9. (12):2630. IF:4,366. (2).

Costa M,Lopez M,Vendrell T,Munoz P,Gener B,Gabau E,Capdevila N,Perez L,Cusco I. Transcriptomic analysis unveils functional consequences of complex rearrangements associated to autism spectrum disorder. Eur. J. Hum. Genet. 2020. 28. (SUPPL 1):p. 376-377. IF:4,246. (2).

Alcorta N,Macias I,Rodriguez CI,Infante A. Crucial Role of Lamin A/C in the Migration and Differentiation of MSCs in Bone. Cells. 2020. 9. (6):1330. IF:4,366. (2).

Tenorio J,Alarcon P,Arias P,Dapia I,Garcia S,Bralo MP,Campistol J,Climent S,Valenzuela I,Ramos S,Monseny AM,Grondona FL,Botet J,Serrano M,Solis M,Santos F,Alvarez S,Teixido G,Jaen AF,Gordo G,Rivera MBB,Nevado J,Hernandez A,Cigudosa JC,Ruiz VL,Tizzano EF,Lapunzina P,SOGRI C. Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients. Eur. J. Hum. Genet. 2020. 28. (4):p. 469-479. IF:4,246. (2).

Castro LP,Sahbatou M,Kehdy FSG,Farias AA,Yurchenko AA,de Souza TA,Rosa R,Mendes CT,Borda V,Munford V,Zanardo ÉA,Chehimi SN,Kulikowski LD,Aquino MM,Leal TP,Tarazona E,Chaibub SC,Gener B,Calmels N,Laugel V,Sarasin A,Menck CFM. The Iberian legacy into a young genetic xeroderma pigmentosum cluster in central Brazil. Mutat Res. 2020. 852. p. 503164-503164. IF:2,011. (3).

Ibarluzea N,Hoz AB,Villate O,Llano I,Ocio I,Martí I,Guitart M,Gabau E,Andrade F,Gener B,Tejada MI. Targeted Next-Generation Sequencing in Patients with Suggestive X-Linked Intellectual Disability. Genes. 2020. 11. (1):51. IF:4,096. (2).

Melis D,Carvalho D,Barbaro T,Espay AJ,Gambello MJ,Gener B,Gerkes E,Hitzert MM,Hove HB,Jansen S,Jira PE,Lachlan K,Menke LA,Narayanan V,Ortiz D,Overwater E,Posmyk R,Ramsey K,Rossi A,Sandoval RL,Stumpel C,Stuurman KE,Cordeddu V,Turnpenny P,Strisciuglio P,Tartaglia M,Unger S,Waters T,Turnbull C,Hennekam RC. Primrose syndrome: Characterization of the phenotype in 42 patients. Clin. Genet. 2020. 97. (6):p. 890-901. IF:4,438. (2).

Macias I,Alcorta N,Rodriguez CI,Infante A. Osteoporosis and the Potential of Cell-Based Therapeutic Strategies. Int. J. Mol. Sci. 2020. 21(5):1653. IF:4,556. (1).

van der Sluijs, Pleuntje J., Jansen, Sandra, Vergano, Samantha A., Adachi-Fukuda, Miho, Alanay, Yasemin, AlKindy, Adila, Baban, Anwar, Bayat, Allan, Beck-Woedl, Stefanie, Berry, Katherine, Bijlsma, Emilia K., Bok, Levinus A., Brouwer, Alwin F. J., van der Burgt, Ineke, Campeau, Philippe M., Canham, Natalie, Chrzanowska, Krystyna, Chu, Yoyo W. Y., Chung, Brain H. Y., Dahan, Karin, De Rademaeker, Marjan, Destree, Anne, Dudding-Byth, Tracy, Earl, Rachel, Elcioglu, Nursel, Elias, Ellen R., Fagerberg, Christina, Gardham, Alice, Gener, Blanca, Gerkes, Erica H., Grasshoff, Ute, van Haeringen, Arie, Heitink, Karin R., Herkert, Johanna C., den Hollander, Nicolette S., Horn, Denise, Hunt, David, Kant, Sarina G., Kato, Mitsuhiro, Kayserili, Hulya, Kersseboom, Rogier, Kilic, Esra, Krajewska-Walasek, Malgorzata, Lammers, Kylin, Laulund, Lone W., Lederer, Damien, Lees, Melissa, Lopez-Gonzalez, Vanesa, Maas, Saskia, Mancini, Grazia M. S., Marcelis, Carlo, Martinez, Francisco, Maystadt, Isabelle, McGuire, Marianne, McKee, Shane, Mehta, Sarju, Metcalfe, Kay, Milunsky, Jeff, Mizuno, Seiji, Moeschler, John B., Netzer, Christian, Ockeloen, Charlotte W., Oehl-Jaschkowitz, Barbara, Okamoto, Nobuhiko, Olminkhof, Sharon N. M., Orellana, Carmen, Pasquier, Laurent, Pottinger, Caroline, Riehmer, Vera, Robertson, Stephen P., Roifman, Maian, Rooryck, Caroline, Ropers, Fabienne G., Rosello, Monica, Ruivenkamp, Claudia A. L., Sagiroglu, Mahmut S., Sallevelt, Suzanne C. E. H., Sanchis Calvo, Amparo, Simsek-Kiper, Pelin O., Soares, Gabriela, Solaeche, Lucia, Sonmez, Fatma Mujgan, Splitt, Miranda, Steenbeek, Duco, Stegmann, Alexander P. A., Stumpel, Constance T. R. M., Tanabe, Saori, Uctepe, Eyyup, Utine, G. Eda, Veenstra-Knol, Hermine E., Venkateswaran, Sunita, Vilain, Catheline, Vincent-Delorme, Catherine, Vulto-van Silfhout, Anneke T., Wheeler, Patricia, Wilson, Golder N., Wilson, Louise C., Wollnik, Bernd, Kosho, Tomoki, Wieczorek, Dagmar, Eichler, Evan, Pfundt, Rolph, de Vries, Bert B. A., Clayton-Smith, Jill, Santen, Gijs W. E.. The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome. Genet Med. 2019; 21(6): 1295 - 1307. FI: 8,683(Q1). DOI: 10.1038/s41436-018-0330-z.

van der Sluijs, Pleuntje J., Jansen, Sandra, Vergano, Samantha A., Adachi-Fukuda, Miho, Alanay, Yasemin, AlKindy, Adila, Baban, Anwar, Bayat, Allan, Beck-Woedl, Stefanie, Berry, Katherine, Bijlsma, Emilia K., Bok, Levinus A., Brouwer, Alwin F. J., van der Burgt, Ineke, Campeau, Philippe M., Canham, Natalie, Chrzanowska, Krystyna, Chu, Yoyo W. Y., Chung, Brain H. Y., Dahan, Karin, De Rademaeker, Marjan, Destree, Anne, Dudding-Byth, Tracy, Earl, Rachel, Elcioglu, Nursel, Elias, Ellen R., Fagerberg, Christina, Gardham, Alice, Gener, Blanca, Gerkes, Erica H., Grasshoff, Ute, van Haeringen, Arie, Heitink, Karin R., Herkert, Johanna C., den Hollander, Nicolette S., Horn, Denise, Hunt, David, Kant, Sarina G., Kato, Mitsuhiro, Kayserili, Hulya, Kersseboom, Rogier, Kilic, Esra, Krajewska-Walasek, Malgorzata, Lammers, Kylin, Laulund, Lone W., Lederer, Damien, Lees, Melissa, Lopez-Gonzalez, Vanesa, Maas, Saskia, Mancini, Grazia M. S., Marcelis, Carlo, Martinez, Francisco, Maystadt, Isabelle, McGuire, Marianne, Mckee, Shane, Mehta, Sarju, Metcalfe, Kay, Milunsky, Jeff, Mizuno, Seiji, Moeschler, John B., Netzer, Christian, Ockeloen, Charlotte W., Oehl-Jaschkowitz, Barbara, Okamoto, Nobuhiko, Olminkhof, Sharon N. M., Orellana, Carmen, Pasquier, Laurent, Pottinger, Caroline, Riehmer, Vera, Robertson, Stephen P., Roifman, Maian, Rooryck, Caroline, Ropers, Fabienne G., Rosello, Monica, Ruivenkamp, Claudia A. L., Sagiroglu, Mahmut S., Sallevelt, Suzanne C. E. H., Calvo, Amparo Sanchis, Simsek-Kiper, Pelin O., Soares, Gabriela, Solaeche, Lucia, Sonmez, Fatma Mujgan, Splitt, Miranda, Steenbeek, Duco, Stegmann, Alexander P. A., Stumpel, Constance T. R. M., Tanabe, Saori, Uctepe, Eyyup, Utine, G. Eda, Veenstra-Knol, Hermine E., Venkateswaran, Sunita, Vilain, Catheline, Vincent-Delorme, Catherine, Vulto-van Silfhout, Anneke T., Wheeler, Patricia, Wilson, Golder N., Wilson, Louise C., Wollnik, Bernd, Kosho, Tomoki, Wieczorek, Dagmar, Eichler, Evan, Pfundt, Rolph, de Vries, Bert B. A., Clayton-Smith, Jill, Santen, Gijs W. E.. The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome (vol 21, pg 1295, 2019). Genet Med. 2019; 21(9): 2160 - 2161. FI: 8,683(Q1). DOI: 10.1038/s41436-018-0368-y.

Mitxitorena, Izaskun, Infante, Arantza, Gener, Blanca, Rodriguez, Clara I.. Suitability and limitations of mesenchymal stem cells to elucidate human bone illness. World J. Stem Cells. 2019; 11(9): 578 - 593. FI: 3,534(Q2). DOI: 10.4252/wjsc.v11.i9.578.

Medhat, Dalia, Rodriguez, Clara I. , Infante, Arantza. Immunomodulatory Effects of MSCs in Bone Healing. Int. J. Mol. Sci.. 2019; 20(21): 5467. FI: 4,183(Q2). DOI: 10.3390/ijms20215467.

Alba-Pavon, P., Astigarraga, I., Garcia-Obregon, S., Echebarria, A., Garcia-Ariza, M., Lopez-Almaraz, R., De Pedro, J., Bilbao-Salcines, N., Solorzano, E., Chocarro, G., De Diego, E., Zaldumbide, L., Mosteiro, L., Gener, B., Patino-Garcia, A.. Identification of Gardner Syndrome Among Paediatric Fibroblastic and Myofibroblastic Tumours: A Study of 7 Cases. Pediatr. Blood Cancer. 2019; 66: 347 - 348. FI: 2,486(Q1). DOI: .

Foster A, Zachariou A, Loveday C, Ashraf T, Blair E, Clayton-Smith J, Dorkins H, Fryer A, Gener B, Goudie D, Henderson A, Irving M, Joss S, Keeley V, Lahiri N, Lynch SA, Mansour S, McCann E, Morton J, Motton N, Murray A, Riches K, Shears D, Stark Z, Thompson E, Vogt J, Wright M, Cole T, Tatton-Brown K. The phenotype of Sotos syndrome in adulthood: A review of 44 individuals.. Am J Med Genet C Semin Med Genet. 2019; 181(4): 502 - 508. FI: 5,683(Q1). DOI: 10.1002/ajmg.c.31738.

 

Pereda A, Garin I, Perez-de-Nanclares G, Anda E, Berrade S, Ramos-Arroyo MA, et al. What to consider when pseudohypoparathyroidism is ruled out: iPPSD and differential diagnosis. BMC Med. Genet. 2018; 19(1): 32. FI: 1,913(Q3). DOI: 10.1186/s12881-018-0530-z.

Tatton-Brown K, Zachariou A, Loveday C, Renwick A, Mahamdallie S, Aksglaede L, et al. The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants. Wellcome Open Res. 2018; 3: 46 - 46. FI: (Q). DOI: 10.12688/wellcomeopenres.14430.1.

Infante A, Rodriguez CI. Secretome analysis of in vitro aged human mesenchymal stem cells reveals IGFBP7 as a putative factor for promoting osteogenesis. Sci. Rep. 2018; 8: 4632. FI: 4,122(Q1). DOI: 10.1038/s41598-018-22855-z.

Tarilonte M, Morin M, Ramos P, Galdos M, Blanco-Kelly F, Villaverde C, et al. Parental Mosaicism in PAX6 Causes Intra-Familial Variability: Implications for Genetic Counseling of Congenital Aniridia and Microphthalmia. Front. Genet.. 2018; 9: 479. FI: 4,151(Q1). DOI: 10.3389/fgene.2018.00479.

Infante A, Rodriguez CI. Osteogenesis and aging: lessons from mesenchymal stem cells. Stem Cell Res. Ther.. 2018; 9: 244. FI: 4,963(Q1). DOI: 10.1186/s13287-018-0995-x. REVIEW.

Turnpenny PD, Wright MJ, Sloman M, Caswell R, van-Essen AJ, Gerkes E, et al. Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features. Am. J. Hum. Genet. 2018; 103(5): 786 - 793. FI: 8,855(Q1). DOI: 10.1016/j.ajhg.2018.09.012.

Vado Y, Errea-Dorronsoro J, Llano-Rivas I, Gorria N, Pereda A, Gener B, et al. Cri-du-chat syndrome mimics Silver-Russell syndrome depending on the size of the deletion: a case report. BMC Med. Genomics. 2018; 11(1): 124. FI: 3,317(Q2). DOI: 10.1186/s12920-018-0441-z.

 

Infante A, Rubio-Azpeitia E, Sanchez P, Alberdi R, Rodriguez CI, Andia I. Platelet rich plasma and culture configuration affect the matrix forming phenotype of bone marrow stromal cells. Tissue Eng Regen Med. 2017;14:567-77. FI:1,169(Q3). DOI:10.1007/s13770-017-0062-1.

Rodriguez, Clara I. Looking Back: Aging and Regeneration. Cell Stem Cell. 2017;20:757. FI:23,394(Q1). EDITORIAL MATERIAL

 

Escontrela B, Gago A, Merino I, Martínez A. Spectral entropy in monitoring anesthetic depth. Rev Esp Anestesiol Reanim. 2016; 63:471-8. DOI:10.1016/j.redar.2015.07.005.

Gago A, Escontrela B, Planas A, Martínez A. Intravenous Ibuprofen for Treatment of Post-Operative Pain: A Multicenter, Double Blind, Placebo-Controlled, Randomized Clinical Trial. PLoS One. 2016;11:e0154004. FI:2,806(Q1). DOI:10.1371/journal.pone.0154004.

Infante A, Rodríguez CI. Pathologically Relevant Prelamin A Interactions with Transcription Factors. Methods Enzymol. 2016;569:485-501. FI:2,088(Q3). DOI:10.1016/bs.mie.2015.08.032.

Klionsky DJ, Abdelmohsen K, Abe A, Abedin MJ, Abeliovich H, Arozena AA, et al. Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition). Autophagy. 2016; 12:1-222. FI:8,593(Q1). DOI:10.1080/15548627.2015.1100356.

 

Infante A, Rodriguez CI. Prelamin A and Oct-1: a puzzle of aging. Oncotarget. 2015;6:3475-3476. FI:5,008(Q1). EDITORIAL MATERIAL

Sánchez P, Infante A, de Eguino GR, Fuentes-Maestre JA, García-Verdugo JM, Rodríguez CI. Age-related lipid metabolic signature in human LMNA-Lipodystrophic Stem Cell-Derived Adipocytes. J Clin Endocr Metab. 2015;100:964-973. FI:5,531(Q1). DOI:10.1210/jc.2014-4528.

 

Gomez-Sanchez C, Kowalczyk T, Ruiz De Eguino G, Lopez-Arraiza A, Infante A, Rodriguez CI, et al. Electrospinning of poly(lactic acid)/polyhedral oligomeric silsesquioxane nanocomposites and their potential in chondrogenic tissue regeneration. J Biomater Sci Polym Ed. 2014;25:802-25. FI: 1,648(Q3)

Infante A, Gago A, de Eguino GR, Calvo-Fernández T, Gómez-Vallejo V, Llop J, et al. Prelamin A accumulation and stress conditions induce impaired Oct-1 activity and autophagy in prematurely aged human mesenchymal stem cell. Aging-US. 2014;6:264-80. FI: 6,432(Q1)

 

Gago A, Infante A, Ruiz de Eguino G, Calvo-Fernandez T, Martin A, Rodriguez CI. Tracing the hallmarks of aging in an hMSC experimental model. Hum Gene Ther. 2013;24:128.  FI: 4,019(Q1). ( Meeting Abstract)

Ruiz de Eguino G,  Infante A, Perez Ruiz E, Fuentes-Maestre J, Garcia-Verdugo JM, Martin AG, et al. Metabolic characterisation of a LMNA-linked lipodystrophic model basedon human adult stem cells. Hum Gene Ther. 2013;24:137. FI: 4,019(Q1). ( Meeting Abstract)

 

Tesis del grupo

Autor/a: Andrea Gago Martínez. Título: Estudio de mecanismos moleculares involucrados en el envejecimiento humano en un modelo experimental basado en células madre mesenquimales. Directores: Dra. Clara Isabel Rodríguez López.

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