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
  • Arriola Infante, José Enrique.Ldo. en Medicina y Cirugía
  • Cano García, Raquel.Lda. en Farmacia. Doctora en Biología Molecular y Biomedicina
  • Cantero Nieto, Gloria.Doctor en Biología
  • Galán Rodríguez, Beatriz.Licenciada en Biología. Dra por la Universidad de Sevilla
  • Mavillard Saborido, Fabiola.Doctor en Biología
  • Navarro Garrido, Mª Victoria.Degree in Pharmacy. PhD student.
  • Paradas López, Carmen.FEA Neurología, HUVR
  • Rodríguez González, Beatriz.Licenciada en Biología
  • Rojas Rojas, Juan.Fisioterapeuta
  • Rojas-Marcos Rodríguez de Quesada, Íñigo.Doctor en Medicina
  • Serrano Cabrera, Macarena.Doctora en Medicina
  • Servián Morilla, Emilia.Doctor en Biología
  • Valladares Sánchez, Amador.Diplomado en Enfermería
  • Vélez Gómez, Beatriz.Investigadora Postdoctoral Rio Hortega

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
Beecroft, SJ; Yau, KS; Allcock, RJN; Mina, K; Gooding, R; Faiz, F; Atkinson, VJ; Wise, C; Sivadorai, P; Trajanoski, D; Kresoje, N; Ong, R; Duff, RM; Cabrera-Serrano, M; Nowak, KJ; Pachter, N; Ravenscroft, G; Lamont, PJ; Davis, MR; Laing, NG
Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
Servian-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; Bonnemann, C; Neto, OLA; Medne, L; Brandsema, J; Topf, 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, alpha-dystroglycan hypoglycosylation and a distinctive radiological pattern
ACTA NEUROPATHOLOGICA
Dominguez-Gonzalez, C; Badosa, C; Madruga-Garrido, M; Marti, I; Paradas, C; Ortez, C; Diaz-Manera, J; Berardo, A; Alonso-Perez, J; Trifunov, S; Cuadras, D; Kalko, SG; Blazquez-Bermejo, C; Camara, Y; Marti, R; Mavillard, F; Martin, MA; Montoya, J; Ruiz-Pesini, E; Villarroya, J; Montero, R; Villarroya, F; Artuch, R; Hirano, M; Nascimento, A; Jimenez-Mallebrera, C
Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathy
SCIENTIFIC REPORTS
Gonzalez-Mera, L; Ravenscroft, G; Cabrera-Serrano, M; Ermolova, N; Dominguez-Gonzalez, C; Arteche-Lopez, A; Soltanzadeh, P; Evesson, F; Navas, C; Mavillard, F; Clayton, J; Rodrigo, P; Servian-Morilla, E; Cooper, ST; Waddell, L; Reardon, K; Corbett, A; Hernandez-Lain, A; Sanchez, A; Perez, JE; Paradas-Lopez, C; Rivas-Infante, E; Spencer, M; Laing, N; Olive, M
HeterozygousCAPN3missense variants causing autosomal-dominant calpainopathy in seven unrelated families
NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY
Cabrera-Serrano, M; Coote, DJ; Azmanov, D; Goullee, H; Andersen, E; McLean, C; Davis, M; Ishimura, R; Stark, Z; Vallat, JM; Komatsu, M; Kornberg, A; Ryan, M; Laing, NG; Ravenscroft, G
A homozygous UBA5 pathogenic variant causes a fatal congenital neuropathy
JOURNAL OF MEDICAL GENETICS
Cortes-Vicente, E; Alvarez-Velasco, R; Segovia, S; Paradas, C; Casasnovas, C; Guerrero-Sola, A; Pardo, J; Ramos-Fransi, A; Sevilla, T; de Munain, AL; Gomez, MT; Jerico, I; Gutierrez-Gutierrez, G; Pelayo-Negro, AL; Martin, MA; Mendoza, MD; Moris, G; Rojas-Garcia, R; Diaz-Manera, J; Querol, L; Gallardo, E; Velez, B; Alberti, MA; Galan, L; Garcia-Sobrino, T; Martinez-Pineiro, A; Lozano-Veintimilla, A; Fernandez-Torron, R; Cano-Abascal, A; Illa, I
Clinical and therapeutic features of myasthenia gravis in adults based on age at onset
NEUROLOGY
Gil-Galvez, A; Carbonell-Corvillo, P; Paradas, C; Miranda-Vizuete, A
Cautionary note on the use of Caenorhabditis elegans to study muscle phenotypes caused by mutations in the human MYH7 gene
BIOTECHNIQUES
Moore, U; Jacobs, M; Fernandez-Torron, R; Rossello, JL; Smith, FE; James, M; Mayhew, A; Rufibach, L; Carlier, PG; Blamire, AM; Day, JW; Jones, KJ; Bharucha-Goebel, DX; Salort-Campana, E; Pestronk, A; Walter, MC; Paradas, C; Stojkovic, T; Mori-Yoshimura, M; Bravver, E; Pegoraro, E; Mendell, JR; Bushby, K; Straub, V; Diaz-Manera, J
Intensive Teenage Activity Is Associated With Greater Muscle Hyperintensity on T1W Magnetic Resonance Imaging in Adults With Dysferlinopathy
FRONTIERS IN NEUROLOGY
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