Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28 (Articolo in rivista)

Type

• Articolo in rivista (Classe)
• Prodotto della ricerca (Classe)

Label

• Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28 (Articolo in rivista) (literal)

Anno

• 2010-01-01T00:00:00+01:00 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi

• 10.1038/ng.544 (literal)

Alternative label

• Di Bella D1; Lazzaro F2; Brusco A3; Plumari M1; Battaglia G4; Pastore A5; Finardi A4; Cagnoli C3; Tempia F6; Frontali M7; Veneziano L7; Sacco T6; Boda E6; Brussino A3; Bonn F8; Castellotti B1; Baratta S1; Mariotti C1; Gellera C1; Fracasso V1; Magri S1; Langer T8; Plevani P2; Di Donato S1; Muzi-Falconi M2; Taroni F.1 (2010)
  Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28
  in Nature genetics (Print)
  (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori

• Di Bella D1; Lazzaro F2; Brusco A3; Plumari M1; Battaglia G4; Pastore A5; Finardi A4; Cagnoli C3; Tempia F6; Frontali M7; Veneziano L7; Sacco T6; Boda E6; Brussino A3; Bonn F8; Castellotti B1; Baratta S1; Mariotti C1; Gellera C1; Fracasso V1; Magri S1; Langer T8; Plevani P2; Di Donato S1; Muzi-Falconi M2; Taroni F.1 (literal)

Pagina inizio

• 313 (literal)

Pagina fine

• 321 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#altreInformazioni

• Epub 2010 Mar 7 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume

• 42 (literal)

Rivista

• Nature genetics (Rivista)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#pagineTotali

• 9 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroFascicolo

• 4 (literal)

Note

• ubMe (literal)
• ISI Web of Science (WOS) (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni

• 1 Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico \"Carlo Besta\", Milan, Italy; 2 Department of Biomolecular Sciences and Biotechnology, University of Milan, Milan, Italy; 3 Department of Genetics, Biology, and Biochemistry, University of Turin, and Unit of Medical Genetics, San Giovanni Battista Hospital, Turin, Italy; 4 Unit of Molecular Neuroanatomy, Fondazione IRCCS Istituto Neurologico \"Carlo Besta\", Milan, Italy; 5 National Institute for Medical Research, London, UK; 6 Section of Physiology of the Department of Neuroscience, University of Turin, and Rita Levi Montalcini Center for Brain Repair, National Institute of Neuroscience, Turin, Italy; 7 Institute of Neurobiology and Molecular Medicine, Consiglio Nazionale delle Ricerche, Rome, Italy; 8 Institute for Genetics and Center for Molecular Medicine Cologne, University of Cologne, Germany. (literal)

Titolo

• Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28 (literal)

Abstract

• Autosomal dominant spinocerebellar ataxias (SCAs) are genetically heterogeneous neurological disorders characterized by cerebellar dysfunction mostly due to Purkinje cell degeneration. Here we show that AFG3L2 mutations cause SCA type 28. Along with paraplegin, which causes recessive spastic paraplegia, AFG3L2 is a component of the conserved m-AAA metalloprotease complex involved in the maintenance of the mitochondrial proteome. We identified heterozygous missense mutations in five unrelated SCA families and found that AFG3L2 is highly and selectively expressed in human cerebellar Purkinje cells. m-AAA–deficient yeast cells expressing human mutated AFG3L2 homocomplex show respiratory deficiency, proteolytic impairment and deficiency of respiratory chain complex IV. Structure homology modeling indicates that the mutations may affect AFG3L2 substrate handling. This work identifies AFG3L2 as a novel cause of dominant neurodegenerative disease and indicates a previously unknown role for this component of the mitochondrial protein quality control machinery in protecting the human cerebellum against neurodegeneration. (literal)

Prodotto di

• Istituto di neurobiologia e medicina molecolare (INMM) (Istituto)
• Controllo trascrizionale in condizioni normali e patologiche. Patogenesi della Corea Benigna Ereditaria (ME.P05.019.001) (Modulo)
• Ormonogenesi e differenziamento tiroideo.Patogenesi delle atassie cerebellari da canalopatie e poliglutammine espanse (ME.P05.008.001) (Modulo)

Autore CNR

• LIANA VENEZIANO (Persona)
• MARINA FRONTALI (Persona)

Insieme di parole chiave

• Keywords of "Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28" (Insieme di parole chiave)

Incoming links:

Autore CNR di

• LIANA VENEZIANO (Persona)
• MARINA FRONTALI (Persona)

Prodotto

• Istituto di neurobiologia e medicina molecolare (INMM) (Istituto)
• Controllo trascrizionale in condizioni normali e patologiche. Patogenesi della Corea Benigna Ereditaria (ME.P05.019.001) (Modulo)
• Ormonogenesi e differenziamento tiroideo.Patogenesi delle atassie cerebellari da canalopatie e poliglutammine espanse (ME.P05.008.001) (Modulo)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#rivistaDi

• Nature genetics (Rivista)

Insieme di parole chiave di

• Keywords of "Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28" (Insieme di parole chiave)