Nature genetics, 2006-08, Vol.38 (8), p.910-916
- Bonthron, David T
- Goizet, Cyril
- Déry, Catherine
- Woods, C Geoffrey
- Ali, Manir
- Weschke, Bernhard
- Jackson, Andrew P
- Voit, Thomas
- King, Mary D
- Baumann, Clarisse
- Till, Marianne
- Quarrell, Oliver W
- Crow, Yanick J
- Cau, Daniel
- Lacombe, Didier
- Lyall, Hermione
- Lanzi, Giovanni
- Stephenson, John B P
- Griffith, Elen
- Garner, Anna
- Parmar, Rekha
- Lebon, Pierre
- McKeown, Carole
- Rogers, R Curtis
- Hayward, Bruce E
- Babul-Hirji, Riyana
- Bertini, Enrico
- Martínez-Frías, María Luisa
- Monier, Anne
- Leitch, Andrea
- Rittey, Christopher D
- Semple, Colin
- Aicardi, Jean
- Chitayat, David
- Tolmie, John L
- Ponting, Chris P
- Baxter, Peter
- Tacke, Uta
- Mathieu, Michèle
- Sanchis, Amparo
- Tomlin, Pam
- Oade, Yvette
- Klepper, Joerg
- Fazzi, Elisa
- Chandler, Kate E
2006
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- Autor(en) / Beteiligte
- Bonthron, David T
- Goizet, Cyril
- Déry, Catherine
- Woods, C Geoffrey
- Ali, Manir
- Weschke, Bernhard
- Jackson, Andrew P
- Voit, Thomas
- King, Mary D
- Baumann, Clarisse
- Till, Marianne
- Quarrell, Oliver W
- Crow, Yanick J
- Cau, Daniel
- Lacombe, Didier
- Lyall, Hermione
- Lanzi, Giovanni
- Stephenson, John B P
- Griffith, Elen
- Garner, Anna
- Parmar, Rekha
- Lebon, Pierre
- McKeown, Carole
- Rogers, R Curtis
- Hayward, Bruce E
- Babul-Hirji, Riyana
- Bertini, Enrico
- Martínez-Frías, María Luisa
- Monier, Anne
- Leitch, Andrea
- Rittey, Christopher D
- Semple, Colin
- Aicardi, Jean
- Chitayat, David
- Tolmie, John L
- Ponting, Chris P
- Baxter, Peter
- Tacke, Uta
- Mathieu, Michèle
- Sanchis, Amparo
- Tomlin, Pam
- Oade, Yvette
- Klepper, Joerg
- Fazzi, Elisa
- Chandler, Kate E
- Titel
- Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection
- Ist Teil von
- Nature genetics, 2006-08, Vol.38 (8), p.910-916
- Ort / Verlag
- London: Nature Publishing Group
- Erscheinungsjahr
- 2006
- Quelle
- MEDLINE
- Beschreibungen/Notizen
- Aicardi-Goutières syndrome (AGS) is an autosomal recessive neurological disorder, the clinical and immunological features of which parallel those of congenital viral infection. Here we define the composition of the human ribonuclease H2 enzyme complex and show that AGS can result from mutations in the genes encoding any one of its three subunits. Our findings demonstrate a role for ribonuclease H in human neurological disease and suggest an unanticipated relationship between ribonuclease H2 and the antiviral immune response that warrants further investigation.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 1061-4036eISSN: 1546-1718DOI: 10.1038/ng1842Titel-ID: cdi_proquest_miscellaneous_759317476
- Format
- –
- Schlagworte
- Aicardi syndrome, Amino Acid Sequence, Base Sequence, Biological and medical sciences, Complications and side effects, Diagnosis, DNA - genetics, Encephalitis, Viral - congenital, Female, Fundamental and applied biological sciences. Psychology, Gene mutations, Genetic aspects, Genetic disorders, Genetics of eukaryotes. Biological and molecular evolution, Heredodegenerative Disorders, Nervous System - enzymology, Heredodegenerative Disorders, Nervous System - genetics, Humans, Immune response, Immunology, Male, Malformations of the nervous system, Medical sciences, Models, Molecular, Molecular Sequence Data, Mutation, Neurological disorders, Neurology, Physiological aspects, Protein Structure, Quaternary, Protein Subunits, Ribonuclease, Ribonuclease H - chemistry, Ribonuclease H - genetics, Ribonuclease H - metabolism, Risk factors, Syndrome