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Progranulin mutations result in impaired processing of prosaposin and reduced glucocerebrosidase activity.
Valdez, Clarissa; Ysselstein, Daniel; Young, Tiffany J; Zheng, Jianbin; Krainc, Dimitri.
Affiliation
  • Valdez C; The Ken & Ruth Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
  • Ysselstein D; The Ken & Ruth Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
  • Young TJ; The Ken & Ruth Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
  • Zheng J; The Ken & Ruth Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
  • Krainc D; The Ken & Ruth Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
Hum Mol Genet ; 29(5): 716-726, 2020 03 27.
Article in En | MEDLINE | ID: mdl-31600775
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Protein Processing, Post-Translational / Saposins / Frontotemporal Dementia / Progranulins / Glucosylceramidase / Mutation Limits: Aged / Aged80 / Female / Humans / Male / Middle aged Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2020 Type: Article Affiliation country: United States
Fulltext
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Protein Processing, Post-Translational / Saposins / Frontotemporal Dementia / Progranulins / Glucosylceramidase / Mutation Limits: Aged / Aged80 / Female / Humans / Male / Middle aged Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2020 Type: Article Affiliation country: United States