Instituto Universitario de Biología Molecular

PUBLICATIONS 2022

1Abramov, S.M., Straub, D., Tejada, J., Grimm, L., Schädler, F., Bulaev, A., Thorwarth, H., Amils, R., Kappler, A., Kleindienst, S. (2022) Biogeochemical Niches of Fe‐cycling Communities Influencing Heavy Metal Transport along the Rio Tinto, Spain. Appl. Environ, Microbiol. 88(4), e02290‐21. doi: 10.1128/aem.02290‐21
2Alcaide, P., Ferrer‐López, I., Gutiérrez, L., Leal, F., Martín‐Hernández, E., Quijada‐Fraile, P., Bellusci, M., Moráis, A., Pedrón‐Giner, C., Rausell, D., Correcher, P., Unceta, M., Stanescu, S., Ugarte, M., Ruiz‐Sala, P., Pérez, B. (2022) Lymphocyte Medium‐Chain Acyl‐CoA Dehydrogenase Activity and Its Potential as a Diagnostic Confirmation Tool in Newborn Screening Cases. J Clin Med. 11(10):2933. doi: 10.3390/jcm11102933.
3Alfaro‐Ruiz R, Aguado C, Martín‐Belmonte A, Moreno‐Martínez AE, Merchán‐ Rubira J, Hernández F, Ávila J, Fukazawa Y, Luján R. (2022) Alteration in the Synaptic and Extrasynaptic Organization of AMPA Receptors in the Hippocampus of P301S Tau Transgenic Mice. Int J Mol Sci. 23(21):13527. doi: 10.3390/ijms232113527.
4Amils R, Escudero C, Oggerin M, Puente Sánchez F, Arce Rodríguez A, Fernández Remolar D, Rodríguez N, García Villadangos M, Sanz JL, Briones C, Sánchez‐Román M, Gómez F, Leandro T, Moreno‐Paz M, Prieto‐Ballesteros O, Molina A, Tornos F, Sánchez‐Andrea I, Timmis K, Pieper DH, Parro V. Coupled C, H, N, S and Fe biogeochemical cycles operating in the continental deep subsurface of the Iberian Pyrite Belt. Environ Microbiol. 2022 Dec 1. doi: 10.1111/1462‐2920.16291. Epub ahead of print.
5Anglés, A., Hee, Q., Sánchez‐García, L., Carrizo, D., Rodríguez, N., Huang, T., Shen, Y., Amils, R., Fernández‐ Remolar, D. (2022) Endokarstic edifices formed by fungal activity during the early Holocene in the “Salar de Uyuni”. Front. Microbiol. 13, 913452. doi:10.3389/fmicb.2022.913452
6Anton‐Fernandez A, Valles‐Saiz L, Avila J, Hernandez F (2022) Neuronal nuclear tau and neurodegeneration. Neuroscience S0306‐4522: 00368‐00362 Doi 10.1016/j.neuroscience.2022.07.015
7Arribas‐Carreira, L., Dallabona, C., Swanson, M.A., Farri,s J., Østergaard, E., Tsiakas, K., Hempel, M., Aquaviva‐ Bourdain, C., Koutsoukos, S., Stence, N.V., Magistrati, M., Spector, E.B., Kronquist, K., Christensen, M., Karstensen, H.G., Feichtinger, R.G., Achleitner, M.T., Lawrence Merritt, J., Pérez, B., Ugarte, M., Grünewald, S., Riela, A.R., Julve, N., Arnoux, J.B., Haldar, K., Donnini, C., Santer, R., Lund, A.M., Mayr, J.A., Rodríguez‐Pombo, P., Van Hove, J.L.K. (2022) Pathogenic variants in GCSH encoding the moonlighting H‐protein cause combined Nonketotic Hyperglycinemia and Lipoate Deficiency. Hum Mol Genet. ddac246. doi: 10.1093/hmg/ddac246.
8Bastolla U, Chambers P, Abia D, Garcia‐Bermejo M‐L, Fresno M (2022) Is Covid‐19 Severity Associated With ACE2 Degradation? Frontiers in Drug Discovery 1DOI: 10.3389/fddsv.2021.789710
9Bellenguez C, Küçükali F, Jansen IE, Kleineidam L, Moreno‐Grau S, Amin N, Naj AC, Campos‐Martin R, Grenier‐ Boley B, ……..(many others) , Bullido MJ, (many others)… , , Andreassen OA, Ingelsson
M, Hiltunen M, Sleegers K, Schellenberg GD, van Duijn CM, Sims R, van der Flier WM, Ruiz A, Ramirez A, Lambert JC. (2022) New insights into the genetic etiology of Alzheimer’s disease and related dementias. Nat Genet. 54, 412‐436. doi: 10.1038/s41588‐022‐01024‐z.
10Bello‐Morales R, Andreu S, Ruiz‐Carpio V, Ripa I, López‐Guerrero JA. (2022) Extracellular Polymeric Substances: Still Promising Antivirals. Viruses. 14(6):1337. doi: 10.3390/v14061337.
11Benegiamo G, Bou Sleiman M, Wohlwend M, Rodríguez‐López S, Goeminne LJE, Laurila PP, Klevjer M, Salonen MK, Lahti J, Jha P, Cogliati S, Enriquez JA, Brumpton BM, Bye A, Eriksson JG, Auwerx J. (2022) COX7A2L genetic variants determine cardiorespiratory fitness in mice and human. Nat Metab. 4(10):1336‐1351. doi: 10.1038/s42255‐022‐00655‐0.
12Braga, A., Gomes, D., Rainha, J., Cardoso, B.B., Amorim, C., Silvério, S.C., Fernández‐Lobato, M., Rodrigues, J.L., Rodrigues, L.R. (2022) Tailoring fructooligosaccharides composition with engineered Zymomonas mobilis ZM4. Appl. Microbiol. Biotechnol.106, 4617‐4626. doi: 10.1007/s00253‐022‐12037‐3
13Bravo‐Alonso, I., Morin, M., Arribas‐Carreira, L., Álvarez, M., Pedrón‐Giner, C., Soletto, L., Santolaria, C., Ramón‐Maiques, S., Ugarte, M., Rodríguez‐Pombo, P., Ariño, J.,Moreno‐Pelayo, M.A., Pérez, B. (2022) Pathogenic variants of the coenzyme A biosynthesis‐associated enzyme phosphopantothe‐noylcysteine decarboxylase cause autosomal‐recessive dilated cardiomyopathy. J Inherit Metab Dis. doi: 10.1002/jimd.12584.
14Briso‐Montiano Á, Vilas A, Richard E, Ruiz‐Sala P, Morato E, Desviat LR, Ugarte M, Rodríguez‐Pombo P, Pérez B. (2022) Hepatocyte‐like cells differentiated from methylmalonic aciduria cblB type induced pluripotent stem cells: A platform for the evaluation of pharmacochaperoning. Biochim Biophys Acta Mol Basis Dis.;1868(9):166433. doi: 10.1016/j.bbadis.2022.166433
15Briso‐Montiano, A., Del Caño‐Ochoa, F., Vilas, A., Velázquez‐Campoy, A., Rubio, V., Pérez, B., Ramón‐Maiques, S., (all last three are corresponding authors). (2022) Insight on molecular pathogenesis and pharmacochaperoning potential in phosphomannomutase 2 deficiency, provided by novel human phosphomannomutase 2 structures. J Inherit Metab Dis. 45(2):318‐333. doi: 10.1002.
16Cacheiro‐Llaguno C, Hernández‐Subirá E, Díaz‐Muñoz MD, Fresno M, Serrador JM, Íñiguez MA. (2022). Regulation of Cyclooxygenase‐2 Expression in Human T Cells by Glucocorticoid Receptor‐Mediated Transrepression of Nuclear Factor of Activated T Cells. Int J Mol Sci. Oct 31;23(21):13275. doi: 10.3390/ijms232113275.
17Cacho‐Navas C, Reglero‐Real N, Colás‐Algora N, Barroso S, de Rivas G, Stamatakis K, Feito J, Andrés G, Fresno M, Kremer L, Correas I, Alonso MA, Millán J. (2022). Plasmolipin regulates basolateral‐to‐apical transcytosis of ICAM‐1 and leukocyte adhesion in polarized hepatic epithelial cells. Cell Mol Life Sci. 2022 Jan 9;79(1):61. doi: 10.1007/s00018‐021‐04095‐z.
18Campos‐Silva C, Cáceres‐Martell Y, Sánchez‐Herrero E, Sandúa A, Beneitez‐Martínez A, González Á, Provencio M, Romero A, Jara‐Acevedo R, Yáñez‐Mó M, Valés‐Gómez M. (2022) A simple immunoassay for extracellular vesicle liquid biopsy in microliters of non‐processed plasma. J Nanobiotechnology. 20(1):72. doi: 10.1186/s12951‐022‐01256‐5.
19Capecchi, E., Tomaino, E., Piccinino, D., Kidibule, P.E., Fernandez Lobato, M., Spinelli, D., Pogni, R., Cabado, A., Lago, J., Saladino, R. (2022) Nanoparticles of lignin and saccharides from fishery wastes as sustainable UV‐shielding, antioxidant and antimicrobial bio‐fillers. Biomacromolecules, 23, 8, 3154‐3164. doi: 10.1021/acs.biomac.2c00236
20Cardeñes B, Clares I, Bezos T, Toribio V, López‐Martín S, Rocha A, Peinado H, Yáñez‐Mó M, Cabañas C. (2022) ALCAM/CD166 Is Involved in the Binding and Uptake of Cancer‐Derived Extracellular Vesicles. Int J Mol Sci. 23(10):5753. doi: 10.3390/ijms23105753.
21Carmona‐Carmona CA, Dalla Pozza E, Ambrosini G, Cisterna B, Palmieri M, Decimo I, Cuezva JM, Bottani E, Dando I. (2022) Mitochondrial Elongation and OPA1 Play Crucial Roles during the Stemness Acquisition Process in Pancreatic Ductal Adenocarcinoma. Cancers (Basel).;14:3432. doi:10.3390/cancers14143432. 
22Carrasco E, Gómez de Las Heras MM, Gabandé‐Rodríguez E, Desdín‐Micó G, Aranda JF, Mittelbrunn M. (2022). The role of T cells in age‐related diseases. Nat Rev Immunol. 22(2):97‐111. doi: 10.1038/s41577‐021‐00557‐4.
23Cervantes, F.V., Fernandez‐Polo, D., Merdzo, Z., Miguez, N., Garcia‐Gonzalez, M., Ballesteros, A.O., Fernandez‐ Lobato, M., Plou, F.J. (2022) Reuse of immobilized Komagataella phaffii cells for the selective elimination of D‐glucose in syrups of bioactive carbohydrates. ACS Food Sci. Technol. 2, 4, 682‐690. doi: 10.1021/acsfoodscitech.2c00008
24Cuadrado, M, Garzón, J, Moreno, S, García‐Higuera, I. (2022). Efficient terminal erythroid differentiation requires the APC/C cofactor Cdh1 to limit replicative stress in erythroblasts. Sci Rep., 12(1):10489. doi: 10.1038/s41598‐022‐14331‐6.
25Cuadros R, Perez M, Ruiz‐Gabarre D, Hernandez F, Garcia‐Escudero V, Avila J (2022) Specific Peptide from the Novel W‐Tau Isoform Inhibits Tau and Amyloid beta Peptide Aggregation In Vitro. ACS Chem Neurosci 13: 1974‐1978 Doi 10.1021/acschemneuro.2c00188
26Cuesta N, Fernández‐Veledo S, Punzón C, Moreno C, Barrocal B, Sreeramkumar V, Desco M, Fresno M. (2022) Opposing Actions of TLR2 and TLR4 in Adipocyte Differentiation and Mature‐Onset Obesity. Int J Mol Sci. Dec 10;23(24):15682. doi: 10.3390/ijms232415682.
27Danbolt NC, López‐Corcuera B, Zhou Y. (2022) Reconstitution of GABA, Glycine and Glutamate Transporters. Neurochem Res. 47(1):85‐110. doi: 10.1007/s11064‐021‐03331‐z.
28Domínguez‐Zorita S, Romero‐Carramiñana I, Cuezva JM, Esparza‐Moltó PB. (2022) The ATPase Inhibitory Factor 1 is a Tissue‐Specific Physiological Regulator of the Structure and Function of Mitochondrial ATP Synthase: A Closer Look Into Neuronal Function. Front Physiol. 13:868820. doi:10.3389/fphys.2022.868820.
29Domínguez‐Zotes, S., Fuertes, M.A., Rodríguez‐Huete, A., Valbuena, A.* and Mateu, M.G.* (2022). A Genetically engineered, chain mail‐like nanostructured protein material with increased fatigue resistance and enhanced self‐healing. Small 18: e2105456. doi: 10.1002/smll.202105456.
30Domínguez‐Zotes, S., Valbuena, A.* and Mateu, M.G.* (2022). Antiviral compounds modulate elasticity, strength and material fatigue of a virus capsid framework. Biophys. J. 121, 919‐931. doi: 10.1016/j.bpj.2022.02.014.
31Escós A, Martín‐Gómez J, González‐Romero D, Díaz‐Mora E, Francisco‐Velilla R, Santiago C, Cuezva JM, Domínguez‐Zorita S, Martínez‐Salas E, Sonenberg N, Sanz‐Ezquerro JJ, Jafarnejad SM, Cuenda A. (2022) TPL2 kinase expression is regulated by the p38γ/p38δ‐dependent association of aconitase‐1 with TPL2 mRNA. Proc Natl Acad Sci U S A. 119: e2204752119. doi: 10.1073/pnas.2204752119.
32Escudero C, Amils R. Dark biosphere: Just at the very tip of the iceberg. Environ Microbiol. 2023 Jan;25(1):147‐149. doi: 10.1111/1462‐2920.16265. Epub 2022 Nov 9.
33Francisco S, Billod JM, Merino J, Punzón C, Gallego A, Arranz A, Martin‐ Santamaria S, Fresno M. (2022). Induction of TLR4/TLR2 Interaction and Heterodimer Formation by Low Endotoxic Atypical LPS. Front Immunol. Jan 24;12:748303. doi: 10.3389/fimmu.2021.748303.
34Gabandé‐Rodríguez E, Pfeiffer M, Mittelbrunn M. Immuno(T)herapy for age‐ related diseases. EMBO Mol Med. 2023 Jan 11;15(1):e16301. doi: 10.15252/emmm.202216301. Epub 2022 Nov 14. PMID: 36373340; PMCID: PMC9832825.
35Galán‐Martínez J, Berenguer I, Del Carmen Maza M, Stamatakis K, Gironès N, Fresno M (2022). TCFL5 deficiency impairs the pachytene to diplotene transition during spermatogenesis in the mouse. Sci Rep. Jun 29;12(1):10956. doi: 10.1038/s41598‐022‐15167‐w.
36Galán‐Martínez J, Stamatakis K, Sánchez‐Gómez I, Vázquez‐Cuesta S, Gironés N, Fresno M (2022). Isoform‐ specific effects of transcription factor TCFL5 on the pluripotency‐related genes SOX2 and KLF4 in colorectal cancer development. Mol Oncol. May;16(9):1876‐1890. doi: 10.1002/1878‐0261.13085.
37Garcia‐Gonzalez, M., Cervantes, F.V., Ipiales, R.P., De la Rubia, M.A., Plou, F.J., Fernandez‐Lobato, M.* (2022) Isomelezitose overproduction by alginate‐entrapped recombinant E. coli cells and in‐vitro evaluation of its potential prebiotic effect. Int. J. Mol. Sci. 23(20), 12682 (pp 1‐15). doi: 10.3390/ijms232012682
38Garcia‐Martin G., Alcover‐Sanchez B., Wandosell F., Cubelos B. (2022) Pathways Involved in Remyelination after Cerebral Ischemia. Current Neuropharmacology 2022;20(4):751‐765. doi: 10.2174/1570159X19666210610093658.
39Garcia‐Martin G., Sanz‐Rodriguez M., Alcover‐Sanchez B., Pereira MP., Wandosell F., Cubelos B. (2022) R‐ Ras1 and R‐Ras2 Expression in Anatomical Regions and Cell Types of the Central Nervous System. International Journal of Molecular Sciences. 23(2):978. doi: 10.3390/ijms23020978.
40Gimeno‐Pérez, M., Finnigan, J., Echeverria, C., Charnock, S. J., Hidalgo, A. & Mate, D. M. (2022). A coupled ketoreductase‐diaphorase assay for the detection of polyethylene terephthalate‐hydrolyzing activity. ChemSusChem e202102750. DOI:10.1002/cssc.202102750
41Gonzalez‐Martinez, J., A. W. Cwetsch, J. Gilabert‐Juan, J. Gomez, G. Garaulet, P. Schneider, G. de Carcer, F. Mulero, E. Caleiras, D. Megias, E. Porlan and M. Malumbres (2022). «Genetic interaction between PLK1 and downstream MCPH proteins in the control of centrosome asymmetry and cell fate during neural progenitor division.» Cell Death Differ 29(8): 1474‐1485. doi: 10.1038/s41418‐022‐00937‐w
42González‐Vasconcellos, I., Cobos Fernández, M.A., Atkinson, M.J., Fernández‐ Piqueras, J., Santos, J. (2022) Quantifying telomeric lncRNAs using PNA‐labelled RNA Flow‐FISH (RNA‐Flow). Commun. Biol. (Nature). 5(1): 513. doi: 10.1038/s42003‐022‐03452‐3.
43Guerreiro, D.N., Pucciarelli, M.G., Tiensuu, T., Gudynaite, D., Boyd, A., Johansson, J., García‐Del Portillo, F., O’Byrne, C.P. (2022) Acid stress signals are integrated into the σB‐dependent general stress response pathway via the stressosome in the food‐borne pathogen Listeria monocytogenes. PLoS Pathog. 18(3): e1010213. doi: 10.1371/journal.ppat.1010213
44Hageskal, G., Heggeset, T. M. B., Nguyen, G.‐S., Haugen, T., Jønsson, M., Egas, C., Hidalgo, A., Wentzel, A. & Lewin, A. S. (2022). Flow‐based method for biofilm microbiota enrichment and exploration of metagenomes. AMB Express 12, 36. DOI: 10.1186/s13568‐022‐01377‐y
45Hernandez F, Ferrer I, Perez M, Zabala JC, Del Rio JA, Avila J (2022) Tau Aggregation. Neuroscience S0306‐ 4522: 00220‐00222 Doi 10.1016/j.neuroscience.2022.04.024
46Hernández IH, Pérez‐Álvarez MJ. (2022) Glial cells in the center of future ischemic stroke treatments. Neural Regen Res. 17(12):2659‐2660. doi: 10.4103/1673‐5374.339480.
47Hernández, S.B., Castanheira, S., Pucciarelli, M.G., Cestero, J.J., Rico‐Pérez, G., Paradela, A., Ayala, J.A., Velázquez, S., San‐Félix, A., Cava, F., García‐Del Portillo, F. (2022) Peptidoglycan editing in non‐ proliferating intracellular Salmonella as source of interference with immune signaling. PLoS Pathog. 18(1): e1010241. doi: 10.1371/journal.ppat.1010241.
48Hernández‐Del‐Valle, M., Valencia‐Expósito, A., Gorfinkiel, N., Martín‐Bermudo, M.D., Míguez, D.G., (2022). Analysis of Actomyosin Oscillatory Dynamics Using a Coarse‐Grained Model. Front. Phys. 10, 881384. doi:10.3389/fphy.2022.881384
49Hernández‐del‐Valle, M., Valencia‐Expósito, A., López‐Izquierdo, A., Casanova‐Ferrer, P., Tarazona, P., Martín‐Bermudo, M.D., Míguez, D.G., (2022). A coarse‐grained approach to model the dynamics of the actomyosin cortex. BMC Biol 20, 90. doi:10.1186/s12915‐022‐01279‐2
50Huang, T., Lai, Q., Xiao, L., Gong, L., Shao, Z., Wang, H., Xu, Y., Amils, R., Escudero, C., Martínez, J.M. (2022) Salinibacillus dalangtanensis sp. nov., a moderate halophile isolated from hypersaline sediments of the Qaidam Basin in NW China. Int. J. Syst. Evol. Microbiol. 71, 005501. doi:10.1099/ijsem.0.005501.
51Huang‐Lin, E., Sánchez‐León, E., Amils, R., Abrusci, C. (2022) Potential applications of an exopolysaccharide produced by Bacillus xiamenesis RT6 isolated from an ecidic environment. Polymers 14, 3918. doi:10.3390/polym14183918.
52Jiménez E, Fornés A, Felipe R, Núñez E, Aragón C, López‐Corcuera B. (2022) Calcium‐Dependent Regulation of the Neuronal Glycine Transporter GlyT2 by M2 Muscarinic Acetylcholine Receptors. Neurochem Res. 47(1):190‐203. doi: 10.1007/s11064‐021‐03298‐x.
53Jiménez‐Ortega, E., Kidibule, P. E., Fernández‐Lobato, M.*, Sanz‐Aparicio, J.* (2022) Structure‐function insights into the fungal endo‐chitinase Chit33 depict its mechanism on chitinous material. Int. J. Mol. Sci. 23 (14), 7599 (pp 1‐15). *Both corresponding authors. doi: 10.3390/ijms23147599
54Jiménez‐Ortega, E.^, Narmontaite, E.^, González‐Pérez, B., Plou, F.J., Fernández‐Lobato, M.*, Sanz‐Aparicio, J.* (2022) Insights into the structure of the highly glycosylated Ffase from Rhodotorula dairenensis enhance its biotechnological potential. Int. J. Mol. Sci. 23(23), 14981(pp 1‐17). *Both corresponding authors. doi:10.3390/ijms232314981
55Jiménez‐Reinoso A, Tirado N, Martinez‐Moreno A, Díaz VM, García‐Peydró M, Hangiu O, Díez‐Alonso L, Albitre Á, Penela P, Toribio ML, Menéndez P, Álvarez‐Vallina L, Sánchez Martínez D (2022). Efficient preclinical treatment of cortical T cell acute lymphoblastic leukemia with T lymphocytes secreting anti‐CD1a T cell engagers. J Immunother Cancer. 10: e005333. doi: 10.1136/jitc‐2022‐005333
56Kajtez J, Wesseler MF, Birtele M, Khorasgani FR, Rylander Ottosson D, Heiskanen A, Kamperman T, Leijten J, Martínez‐Serrano A, Larsen NB, Angelini TE, Parmar M, Lind JU, Emnéus J. (2022) Embedded 3D Printing in Self‐Healing Annealable Composites for Precise Patterning of Functionally Mature Human Neural Constructs. Adv Sci (Weinh). 2022 Sep;9(25):e2201392. doi: 10.1002/advs.202201392
57Labat‐de‐Hoz, L., Comas, L., Rubio‐Ramos, A., Casares‐Arias, J., Fernández‐Martín, L., Pantoja‐Uceda, D. Martín, M.T., Kremer, L., Jiménez, M.A., Correas, I., and Alonso, M.A. (2022) Structure and function of the N‐terminal extension of the formin INF2. Cell. Mol. Life Sci. 79, 571. doi: 10.1007/s00018‐022‐04581‐y.
58Le Guen Y, Belloy ME, Grenier‐Boley B, de Rojas I, Castillo‐Morales A, Jansen I, Nicolas A, Bellenguez C, Dalmasso C, …(many others)… , Bullido MJ, Clarimon J, García‐ Alberca JM, Mir P, Moreno F,
Pastor P, Piñol‐Ripoll G, Molina‐Porcel L, Pérez‐ Tur J, Rodríguez‐Rodríguez E, Royo JL, Sánchez Valle R, Dichgans M, Rujescu D. (2022) Association of Rare APOE Missense Variants V236E and R251G With Risk of Alzheimer Disease. JAMA Neurol. 79, 652‐663. doi: 10.1001/jamaneurol.2022.1166
59López‐Muñoz AD, Rastrojo A, Martín R, Alcami A. (2022) High‐throughput engineering of cytoplasmic‐ and nuclear‐replicating large dsDNA viruses by CRISPR/Cas9. J Gen Virol. 103(10). doi: 10.1099/jgv.0.001797.
60López‐Nieva, P., Fernández‐Navarro, P., Cobos‐Fernández, M.A., González‐Vasconcellos, I., Sánchez‐Pérez, R., Aroca, A., Fernández‐Piqueras, J., Santos, J. (2022). Patterns of differentially expressed circRNAs in human thymocytes. Non‐Coding RNA. 8(2): 26. doi: 10.3390/ncrna8020026. Cover Volume 8 Issue 2 April 2022.
61López‐Nieva, P., González‐Vasconcellos, I., González‐Sánchez, L., Cobos‐Fernández, M.A., Ruiz‐García, S., Sánchez‐Pérez, R., Aroca, A., Fernández‐Piqueras, J., Santos, J. (2022). Differential molecular response in mice and human thymocytes exposed to a combined‐dose radiation regime. Sci. Rep. 12(1): 3144. doi: 10.1038/s41598‐022‐07166‐8.
62Luque J, Mendes I, Gómez B, Morte B, López de Heredia M, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch R, Fillat C, Pérez‐Jurado LA, Montoliu L, Carracedo Á, Millán JM, Webb SM, Palau F; CIBERER Network; Lapunzina P. (2022) CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative. Clin Genet. 101(5‐6):481‐493. doi: 10.1111/cge.14113.
63Mamou, G., Corona, F., Cohen‐Khait, R., Housden, N.G., Yeung, V., Sun, D., Sridhar, P., Pazos, M., Knowles, T.J., Kleanthous, C. and Vollmer, W., (2022) Peptidoglycan maturation controls outer membrane protein assembly. Nature. 606, 953‐959. doi: 10.1038/s41586‐022‐04834‐7.
64Marín‐Rubio, J.L., Vela‐Martín, L., Gudgeon, J., Pérez‐Gómez, E., Sidgwick, F.R., Trost, M., Cunningham, D.L., Santos, J., Fernández‐Piqueras, J., Villa‐Morales, M. (2022). A dual role for FADD in human T‐cell lymphoblastic neoplasms. Int. J. Mol. Sci. 23(23): 15157; https://doi.org/10.3390/ijms232315157.
65Martinez‐Pizarro A, Desviat LR. (2022) RNA solutions to treat inborn errors of metabolism. Mol Genet Metab. 136(4):289‐295. doi: 10.1016/j.ymgme.2022.07.006.
66Martínez‐Pizarro A, Leal F, Holm LL, Doktor TK, Petersen USS, Bueno M, Thöny B, Pérez B, Andresen BS, Desviat LR.(2022) Antisense Oligonucleotide Rescue of Deep‐Intronic Variants Activating Pseudoexons in the 6‐ Pyruvoyl‐Tetrahydropterin Synthase Gene. Nucleic Acid Ther. 32(5):378‐390. doi: 10.1089/nat.2021.0066.
67Martín‐Montes A, Recuero M, Sastre I, Vilella E, Rosich‐Estragó M, Atienza M, Cantero JL, Frank‐García A, Bullido MJ. (2022) Cholesterol dysregulation in peripheral blood mononuclear cells of Alzheimer’s disease. J Neuroimmunol. 15;373:577996. doi: 10.1016/j.jneuroim.2022.577996.
68Martín‐Rivada, Á., Cambra Conejero, A., Martín‐Hernández, E., Moráis López, A., Bélanger‐Quintana, A., Cañedo Villarroya, .E, Quijada‐Fraile, P., Bellusci, M., Chumillas Calzada, S., Bergua Martínez, A., Stanescu, S., Martínez‐Pardo Casanova, M., Ruíz‐Sala, P., Ugarte, M., Pérez González, B., Pedrón‐Giner, C. (2022) Newborn screening for propionic, methylmalonic acidemia and vitamin B12 deficiency. Analysis of 588,793 newborns. J Pediatr Endocrinol Metab. 35(10):1223‐1231. doi: 10.1515/jpem‐2022‐ 0340.
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