Expression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis (Articolo in rivista)

Type

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

Label

• Expression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis (Articolo in rivista) (literal)

Anno

• 2010-01-01T00:00:00+01:00 (literal)

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

• 10.1093/hmg/ddq381 (literal)

Alternative label

• Sharifi A.; Kousi M.; Sagné C.; Bellenchi G.C.; Morel L.; Darmon M.; Hulková H.; Ruivo R.; Debacker C.; El Mestikawy S.; Elleder M.; Lehesjoki A.E.; Jalanko A.; Gasnier B.; Kyttälä A. (2010)
  Expression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis
  in Human molecular genetics (Print)
  (literal)

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

• Sharifi A.; Kousi M.; Sagné C.; Bellenchi G.C.; Morel L.; Darmon M.; Hulková H.; Ruivo R.; Debacker C.; El Mestikawy S.; Elleder M.; Lehesjoki A.E.; Jalanko A.; Gasnier B.; Kyttälä A. (literal)

Pagina inizio

• 4497 (literal)

Pagina fine

• 4514 (literal)

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• http://hmg.oxfordjournals.org/content/19/22/4497.long (literal)

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• 19 (literal)

Rivista

• Human molecular genetics (Rivista)

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• PMID:20826447 (literal)

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• 22 (literal)

Note

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

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

• Institut de Biologie Physico-Chimique, Universite ? Paris Descartes, Centre National de la Recherche Scientifique, UMR 8192, Institut de Biologie Physico-Chimique, Paris F-75005, France, Department of Medical Genetics and Neuroscience Center, Folkha ?lsan Institute of Genetics, University of Helsinki, Helsinki 00014, Finland, Istituto di Genetica e Biofisica \"Adriano Buzzati Traverso\", CNR, Napoli 80121, Italy, INSERM U952, CNRS UMR7224, Universite ? Pierre et Marie Curie, F-75252 Paris Cedex 05, France, INSERM U894, Centre de Psychiatrie et Neuroscience, Paris 75014, France, First Faculty of Medicine, Institute of Inherited Metabolic Disorders, Charles University, 120 00 Prague, Czech Republic, Department of Psychiatry, McGill University, Douglas Hospital Research Centre, Montreal, QC H4H 1R3, Canada, 8National Institute for Health and Welfare (THL), Biomedicum Helsinki, Helsinki 00290, Finland and 9FIMM, Institute for Molecular Medicine Finland, Helsinki 00290, Finland (literal)

Titolo

• Expression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis (literal)

Abstract

• Neuronal ceroid lipofuscinoses (NCLs) constitute a group of progressive neurodegenerative disorders resulting from mutations in at least eight different genes. Mutations in the most recently identified NCL gene, MFSD8/CLN7, underlie a variant of late-infantile NCL (vLINCL). The MFSD8/CLN7 gene encodes a polytopic protein with unknown function, which shares homology with ion-coupled membrane transporters. In this study, we confirmed the lysosomal localization of the native CLN7 protein. This localization of CLN7 is not impaired by the presence of pathogenic missense mutations or after genetic ablation of the N-glycans. Expression of chimeric and full-length constructs showed that lysosomal targeting of CLN7 is mainly determined by an N-terminal dileucine motif, which specifically binds to the heterotetrameric adaptor AP-1 in vitro. We also show that CLN7 mRNA is more abundant in neurons than astrocytes and microglia, and that it is expressed throughout rat brain, with increased levels in the granular layer of cerebellum and hippocampal pyramidal cells. Interestingly, this cellular and regional distribution is in good agreement with the autofluorescent lysosomal storage and cell loss patterns found in brains from CLN7-defective patients. Overall, these data highlight lysosomes as the primary site of action for CLN7, and suggest that the pathophysiology underpinning CLN7-associated vLINCL is a cell-autonomous process. (literal)

Prodotto di

• Istituto di genetica e biofisica \"Adriano Buzzati Traverso\" (IGB) (Istituto)
• Meccanismi molecolari e cellulari della determinazione neurale, differenziamento neuronale e patologie del sistema nervoso (SV.P16.006.001) (Modulo)

Autore CNR

• GIAN CARLO BELLENCHI (Unità di personale interno)

Incoming links:

Prodotto

• Istituto di genetica e biofisica \"Adriano Buzzati Traverso\" (IGB) (Istituto)
• Meccanismi molecolari e cellulari della determinazione neurale, differenziamento neuronale e patologie del sistema nervoso (SV.P16.006.001) (Modulo)

Autore CNR di

• GIAN CARLO BELLENCHI (Unità di personale interno)

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

• Human molecular genetics (Rivista)