title: ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism.
authors: 1 Department of Human Genetics, University of Utah, Salt Lake City 84112, Utah, USA 2 Department of Medical and Surgical Science, University of Bologna, Bologna 40138, Italy emanuele.panza@genetics.utah.edu.
authors: Emanuele
authors: E
authors: Panza
authors: 3 Instituto de Biomedicina de Valencia of the CSIC, Valencia 46010, Spain.
authors: Juan M
authors: JM
authors: Escamilla-Honrubia
authors: 3 Instituto de Biomedicina de Valencia of the CSIC, Valencia 46010, Spain 4 Group 739, Centro para Investigación Biomédica en Red sobre Enfermedades Raras CIBERER-ISCIII, Valencia, Spain.
authors: Clara
authors: C
authors: Marco-Marín
authors: 3 Instituto de Biomedicina de Valencia of the CSIC, Valencia 46010, Spain 4 Group 739, Centro para Investigación Biomédica en Red sobre Enfermedades Raras CIBERER-ISCIII, Valencia, Spain.
authors: Nadine
authors: N
authors: Gougeard
authors: 5 Department of Neurosciences and Reproductive and Odontostomatologic Sciences, University Federico II, Naples 80138, Italy.
authors: Giuseppe
authors: G
authors: De Michele
authors: 5 Department of Neurosciences and Reproductive and Odontostomatologic Sciences, University Federico II, Naples 80138, Italy.
authors: Vincenzo Brescia
authors: VB
authors: Morra
authors: 6 IRCCS Istituto delle Scienze Neurologiche di Bologna 40139, Italy 7 Department of Biomedical and NeuroMotor Sciences, University of Bologna 40139, Italy.
authors: Rocco
authors: R
authors: Liguori
authors: 8 Clinical Genetics Unit, Department of Woman and Child Health, University of Padova 35128, Italy 9 IRP Città della Speranza, Padova 35129, Italy.
authors: Leonardo
authors: L
authors: Salviati
authors: 10 A. Meyer Institute, Firenze 50139, Italy.
authors: Maria Alice
authors: MA
authors: Donati
authors: 11 Istituto di Ricerca Genetica e Biomedica (IRGB), CNR, Cagliari 09042, Italy 12 CRS4, Parco Tecnologico della Sardegna, Cagliari 09010, Italy.
authors: Roberto
authors: R
authors: Cusano
authors: 2 Department of Medical and Surgical Science, University of Bologna, Bologna 40138, Italy.
authors: Tommaso
authors: T
authors: Pippucci
authors: 13 Medical Genetics Unit, G. Gaslini Institute, Genova 16147, Italy 14 University of Genova, DINOGMI Department, Genova 16147, Italy.
authors: Roberto
authors: R
authors: Ravazzolo
authors: 15 Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford OX3 9DU, UK 16 Department of Clinical Genetics, Churchill Hospital, Oxford University Hospitals NHS Trust, Oxford, UK.
authors: Andrea H
authors: AH
authors: Németh
authors: 17 Department of Clinical Genetics, St Michael's Hospital Bristol BS8 4LL, UK.
authors: Sarah
authors: S
authors: Smithson
authors: 18 Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK.
authors: Sally
authors: S
authors: Davies
authors: 19 Department of Clinical Genetics, Great Ormond Street Hospital, London, UK.
authors: Jane A
authors: JA
authors: Hurst
authors: 20 IRCCS AOU San Martino - IST. Istituto Nazionale per la Ricerca sul Cancro, Genova 16132, Italy.
authors: Domenico
authors: D
authors: Bordo
authors: 3 Instituto de Biomedicina de Valencia of the CSIC, Valencia 46010, Spain 4 Group 739, Centro para Investigación Biomédica en Red sobre Enfermedades Raras CIBERER-ISCIII, Valencia, Spain.
authors: Vicente
authors: V
authors: Rubio
authors: 2 Department of Medical and Surgical Science, University of Bologna, Bologna 40138, Italy.
authors: Marco
authors: M
authors: Seri
mesh_terms: D000444:Aldehyde Dehydrogenase / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D009952:Ornithine / Q000235:genetics* / Q000378:metabolism*; D015419:Spastic Paraplegia, Hereditary / Q000235:genetics*
chemical_list: D009952:Ornithine; D000444:Aldehyde Dehydrogenase