ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism
| Autor: | Giuseppe De Michele, Vicente Rubio, Domenico Bordo, Andrea H. Németh, Sally J. Davies, Jane A. Hurst, Roberto Cusano, Nadine Gougeard, Emanuele Panza, Juan Manuel Escamilla-Honrubia, Leonardo Salviati, Vincenzo Brescia Morra, Clara Marco-Marín, Marco Seri, Sarah F. Smithson, Rocco Liguori, Tommaso Pippucci, Maria Alice Donati, Roberto Ravazzolo |
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| Přispěvatelé: | Panza, Emanuele, Escamilla-Honrubia, Juan M, Marco-Marín, Clara, Gougeard, Nadine, De Michele, Giuseppe, Brescia Morra, Vincenzo, Liguori, Rocco, Salviati, Leonardo, Donati, Maria Alice, Cusano, Roberto, Pippucci, Tommaso, Ravazzolo, Roberto, Németh, Andrea H, Smithson, Sarah, Davies, Sally, Hurst, Jane A, Bordo, Domenico, Rubio, Vicente, Seri, Marco, Ministerio de Economía y Competitividad (España), Generalitat Valenciana, Centro de Investigación Biomédica en Red Enfermedades Raras (España), Escamilla-Honrubia, Juan Manuel, Escamilla Honrubia, Juan M, Marco Marín, Clara, DE MICHELE, Giuseppe, BRESCIA MORRA, Vincenzo, Rubio, Vicente [0000-0001-8124-1196], Escamilla-Honrubia, Juan Manuel [0000-0003-0154-6569] |
| Jazyk: | angličtina |
| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
Male Ornithine Candidate gene Mutagenesis (molecular biology technique) Biology Gene mutation medicine.disease_cause 03 medical and health sciences 0302 clinical medicine Congenital Bilateral Cataracts medicine Humans Spastic Paraplegia Gene Loss function Genetics Mutation Spastic Paraplegia Hereditary Medicine (all) Aldehyde Dehydrogenase Phenotype 030104 developmental biology Hereditary Female Neurology (clinical) 030217 neurology & neurosurgery Human |
| Zdroj: | Digital.CSIC. Repositorio Institucional del CSIC instname |
| Popis: | 8 páginas, 4 figuras, 1 tabla Supported by Grants from the Comitato Telethon Fondazione Onlus, the Amministrazione Autonoma dei Monopoli di Stato, the city of Gubbio, Italy (grant numbers GGP06209 and GGP10121), the Italian Ministry of Health (‘Identification of tumor biomarkers through a biologydriven integrated approach’), and the Spanish and the Valencian Governments (grants BFU2011-30407 and Prometeo II/2014/029, respectively). NG holds a contract of CIBERER. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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