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Pathogenic mutations cause rapid degradation of lysosomal storage disease-related membrane protein CLN6.
Kurze, Anna-Katherina; Galliciotti, Giovanna; Heine, Claudia; Mole, Sara E; Quitsch, Arne; Braulke, Thomas.
Affiliation
  • Kurze AK; Department of Biochemistry, Children's Hospital, University Hospital Hamburg-Eppendorf, Hamburg, Germany.
Hum Mutat ; 31(2): E1163-74, 2010 Feb.
Article in En | MEDLINE | ID: mdl-20020536
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Protein Processing, Post-Translational / Lysosomal Storage Diseases / Membrane Proteins / Mutation Type of study: Prognostic_studies Limits: Humans Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2010 Document type: Article Affiliation country: Germany Country of publication: United States
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Protein Processing, Post-Translational / Lysosomal Storage Diseases / Membrane Proteins / Mutation Type of study: Prognostic_studies Limits: Humans Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2010 Document type: Article Affiliation country: Germany Country of publication: United States