Neurosciences

Enfermedades Neuromusculares

Carmen Paradas López
Carmen Paradas López
IBiS
Campus Hospital Universitario Virgen del Rocío
Avda. Manuel Siurot, s/n.
41013 · Sevilla
Laboratory: 118

Carmen Paradas López

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  1. Group members
  2. Research areas
  3. Publications

Group: Enfermedades Neuromusculares

Directory
Group members Enfermedades Neuromusculares
  • Ávila Polo, Rainiero.Especialista en Neuropatología
  • Cantero Nieto, Gloria.Doctor en Biología
  • Madruga Garrido, Marcos.Especialista en Neuropediatría
  • Mavillard Saborido, Fabiola.Doctor en Biología
  • Paradas López, Carmen.FEA Neurología, HUVR
  • Rivas Infante, Eloy.Especialista en Neuropatología
  • Rojas Marcos, Iñigo.Especialista en Neurología
  • Rojas Rojas, Juan.Fisioterapeuta
  • Sánchez - Aguilera, Nieves.Fisioterapeuta
  • Serrano Cabrera, Macarena.Dr. En Biología
  • Servián Morilla, Emilia.Doctor en Biología
  • Valladares Sánchez, Amador.Diplomado en Enfermería

Research areas

Our group works applying molecular biology, cell culture, human genetics, animal models, and electrophysiology to study the pathomechanisms underlying the Neuromuscular Disorders and the function of the proteins associated to these diseases. We have developed in-vitro, ex-vivo and in-vivo assays to investigate the pathogenic hypothesis raising from the genetic findings in patients suffering from neuromuscular disorders, mainly focused on new genes and new mutations.

Specifically, the main lines of research are:

1. Description of the knock-in mouse model of LGMD due to POGLUT1 mutations and therapeutic approach (founded by FIS PI16-01843)
2. Role of the Notch signaling pathway protein in the maintenance of satellite cell pool in skeletal muscle and glycosylation of alpha-dystroglycan (founded by Consejería PI-0085-2016)
3. Investigation of new genes and pathogenic mechanism involved in Neuromuscular Disorders, through next generation sequencing: studies of populations and individuals (founded by FIS PI16/00612)
4. A precise approach for nucleoside-based therapy of neuromuscular disorders with defects in mitochondrial DNA (founded by FIS PMP15-00025)
5. Clinical outcome study for dysferlinopathy and role of proteosome in the degradation of mutated dysferlin protein (founded by Jain Foundation)

It has to be noticed that under Carmen Paradas´ coordination, the Unit of Neuromuscular Disorders of Hospital Universitario Virgen del Rocío/IBiS, to which this research group belongs, has been recently designated as National Reference Unit by the Spanish Ministry of Health (CSUR). In 2016, she was part of the European committee to elaborate the criteria for the European Reference Network (ERN) in Neuromuscular Disorders, and her Neuromuscular Unit, together with her research group, has been evaluated and designated part of this ERN (EURO-NMD). Altogether Carmen Paradas´ group is positioned in the first line at international level in the field of the Neuromuscular Disorders, at clinical and research level.

International Journals
Servián-Morilla E, Cabrera-Serrano M, Johnson K, Pandey A, Ito A, Rivas E, Chamova T, Muelas N, Mongini T, Nafissi S, Claeys KG, Grewal RP, Takeuchi M, Hao H, Bönnemann C, Lopes Abath Neto O, Medne L, Brandsema J, Töpf A, Taneva A, Vilchez JJ, Tournev I, Haltiwanger RS, Takeuchi H, Jafar-Nejad H, Straub V, Paradas C
POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern.
Acta Neuropathol
2. Mavillard F, Madruga-Garrido M, Rivas E, Servián-Morilla E, Ávila-Polo R, Marcos I, Morón FJ, Paradas C*, Cabrera-Serrano M*.
NOVEL intronic CAPN3 Roma mutation alters splicing causing RNA mediated decay.
Ann Clin Transl Neurol.
Cristina Domínguez-González, Marcos Madruga-Garrido, Fabiola Mavillard, Caterina Garone, Francisco Javier Aguirre-Rodríguez, Alice Donati, Karin Kleinsteuber, Itxaso Martí, Elena Martín-Hernández, Juan P. Morealejo-Aycinena, Francina Munell, Andrés Nascimento, Susana G. Kalko, M. Dolores Sardina, ConcepcionÁlvarez del Vayo, Olga Serrano, Yuelin Long, BruceLevin, John L.P. Thompson, Kristen Engelstad, Jasim Uddin, Javier Torres-Torronteras, Cecilia Jimenez-Mallebrera, Ramon Martí, Carmen Paradas*, Michio Hirano*.
Deoxynucleoside therapy for thymidine kinase 2 (TK2) deficient myopathy.
Annals Neurol
Domínguez-González C, Hernández-Laín A, Rivas E, Hernández-Voth A, Sayas Catalán J, Fernández-Torrón R, Fuiza-Luces C, García García J, Morís G, Olivé M, Miralles F, Díaz-Manera J, Caballero C, Méndez-Ferrer B, Martí R, García Arumi E, Badosa MC, Esteban J, Jimenez-Mallebrera C, Encinar AB, Arenas J, Hirano M, Martin MÁ, Paradas C*.
Late-onset thymidine kinase 2 deficiency: a review of 18 cases.
Orphanet J Rare Dis.
Servián-Morilla E, Cabrera-Serrano M, Rivas-Infante E, Carvajal A, Lamont PJ, Pelayo-Negro AL, Ravenscroft G, Junckerstorff R, Dyke JM, Fletcher S, Adams AM, Mavillard F, Fernández-García MA, Nieto-González JL, Laing NG, Paradas C*.
Altered myogenesis and premature senescence underlie human TRIM32-related myopathy
Acta Neuropathol Commun.
Carbonell-Corvillo, P; Tristán-Clavijo, E; Cabrera-Serrano, M; Servián-Morilla E; García-Martín, G.; Villarreal-Pérez, L; Rivas-Infante, E.; Area-Gómez, E.; Chamorro-Muñoz, M.I; Gil-Gálvez A.; Miranda-Vizuete A.; Martinez-Mir, A.; Laing, N.; Paradas, C*.
A novel MYH7 founder mutation causing Laing distal myopathy in Southern Spain.
Neuromuscul Disord
Macarena Cabrera-Serrano, Fabiola Mavillard, Valerie Biancalana, Eloy Rivas, Bharti Morar, Aurelio Hernández-Laín, Montse Olive, Nuria Muelas, Eduardo Khan, Alejandra Carvajal, Pablo Quiroga, Jordi Diaz-Manera, Mark Davis, Rainiero Ávila, Cristina Domínguez, Norma Beatriz Romero, Juan J. Vílchez, David Comas, Nigel G. Laing, Jocelyn Laporte, Luba Kalaydjieva, Carmen Paradas*.
A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine
Neurology
Daniel Sánchez-Gutiérrez, Aurora Sáez, Carmen Paradas, Luis M. Escudero
Rules of tissue packing involving different cell types: human muscle organization
Scientific Report
Emilia Servián-Morilla, Hideyuki Takeuchi, Tom V Lee, Jordi Clarimon, Fabiola Mavillard, Estela Area-Gómez, Eloy Rivas, Jose L Nieto-González, Maria C Rivero, Macarena Cabrera, Leonardo Gómez-Sánchez, Jose A Martínez-López, Beatriz Estrada, Celedonio Márquez, Yolanda Morgado, Xavier Suárez-Calvet, Guillermo Pita, Eduard Gallardo, Rafael Fernández-Chacón, Michio Hirano, Robert S Haltiwanger, Hamed Jafar-Nejad, Carmen Paradas.
A missense mutation in POGLUT1 causes recessive limb-girdle muscular dystrophy
EMBO Mol Med