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Age of onset predicted by Aß profiling in a novel PSEN1 (I180F) mutation.
Robbie, Leah; Fernández, Sara Gutiérrez; Montoya, Lucy; Sagare, Abhay; Barrera, Lilibeth; Sheikh-Bahaei, Nasim; Gutierrez, Lucia Chavez; Ringman, John M.
Afiliação
  • Robbie L; Alzheimer's Disease Research Center, Department of Neurology, Center for Health Professions, 1520 Alcazar Street, Suite 210, University of Southern California, Los Angeles, CA 90033, USA.
  • Fernández SG; VIB-KU Leuven Center for Brain & Disease Research, Department of Neurosciences, Leuven Brain Institute, KU Leuven, Herestraat 49 box 602, 3000 Leuven, Belgium.
  • Montoya L; Alzheimer's Disease Research Center, Department of Neurology, Center for Health Professions, 1520 Alcazar Street, Suite 210, University of Southern California, Los Angeles, CA 90033, USA.
  • Sagare A; Alzheimer's Disease Research Center, Department of Neurology, Center for Health Professions, 1520 Alcazar Street, Suite 210, University of Southern California, Los Angeles, CA 90033, USA; Zilkha Neurogenetics Institute, Keck School of Medicine, University of Southern California, 1501 San Pablo Stree
  • Barrera L; Alzheimer's Disease Research Center, Department of Neurology, Center for Health Professions, 1520 Alcazar Street, Suite 210, University of Southern California, Los Angeles, CA 90033, USA.
  • Sheikh-Bahaei N; Alzheimer's Disease Research Center, Department of Neurology, Center for Health Professions, 1520 Alcazar Street, Suite 210, University of Southern California, Los Angeles, CA 90033, USA; Department of Radiology, University of Southern California, 1441 Eastlake Ave., #2315, Los Angeles, CA 90089, US
  • Gutierrez LC; VIB-KU Leuven Center for Brain & Disease Research, Department of Neurosciences, Leuven Brain Institute, KU Leuven, Herestraat 49 box 602, 3000 Leuven, Belgium.
  • Ringman JM; Alzheimer's Disease Research Center, Department of Neurology, Center for Health Professions, 1520 Alcazar Street, Suite 210, University of Southern California, Los Angeles, CA 90033, USA. Electronic address: ringman@usc.edu.
Neurosci Lett ; 820: 137591, 2024 Jan 18.
Article em En | MEDLINE | ID: mdl-38103630
ABSTRACT
We describe a novel I180F mutation in PSEN1 in which biomarker-supported Alzheimer's disease (AD) segregated in two affected family members. The affected amino acid is highly conserved across species and in silico models predict pathogenicity for AD. The mean age of onset was 56 which was reasonably predicted by the pattern of Aß species produced in an in vitro model.
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Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Peptídeos beta-Amiloides / Presenilina-1 / Doença de Alzheimer Limite: Humans Idioma: En Revista: Neurosci Lett Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Peptídeos beta-Amiloides / Presenilina-1 / Doença de Alzheimer Limite: Humans Idioma: En Revista: Neurosci Lett Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Estados Unidos