دورية أكاديمية
أعرض في EDS

Characterization and molecular profiling of PSEN1 familial Alzheimer's disease iPSC-derived neural progenitors.

التفاصيل البيبلوغرافية
العنوان: Characterization and molecular profiling of PSEN1 familial Alzheimer's disease iPSC-derived neural progenitors.
المؤلفون: Sproul AA; The New York Stem Cell Foundation, New York, New York, United States of America., Jacob S; The New York Stem Cell Foundation, New York, New York, United States of America., Pre D; Department of Pathology & Cell Biology and the Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York, United States of America., Kim SH; Departments of Neurology and Psychiatry and the Alzheimer's Disease Research Center, Icahn School of Medicine at Mount Sinai, New York, New York, United States of America., Nestor MW; The New York Stem Cell Foundation, New York, New York, United States of America., Navarro-Sobrino M; Department of Psychiatry, Columbia University, New York, New York, United States of America., Santa-Maria I; Department of Pathology & Cell Biology and the Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York, United States of America., Zimmer M; The New York Stem Cell Foundation, New York, New York, United States of America., Aubry S; Department of Pathology & Cell Biology and the Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York, United States of America., Steele JW; Departments of Neurology and Psychiatry and the Alzheimer's Disease Research Center, Icahn School of Medicine at Mount Sinai, New York, New York, United States of America., Kahler DJ; The New York Stem Cell Foundation, New York, New York, United States of America., Dranovsky A; Department of Psychiatry, Columbia University, New York, New York, United States of America., Arancio O; Department of Pathology & Cell Biology and the Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York, United States of America., Crary JF; Department of Pathology & Cell Biology and the Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York, United States of America., Gandy S; Departments of Neurology and Psychiatry and the Alzheimer's Disease Research Center, Icahn School of Medicine at Mount Sinai, New York, New York, United States of America ; James J Peters Veterans Administration Medical Center, Bronx, New York, United States of America., Noggle SA; The New York Stem Cell Foundation, New York, New York, United States of America.
المصدر: PloS one [PLoS One] 2014 Jan 08; Vol. 9 (1), pp. e84547. Date of Electronic Publication: 2014 Jan 08 (Print Publication: 2014).
نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
اللغة: English
بيانات الدورية: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE
أسماء مطبوعة: Original Publication: San Francisco, CA : Public Library of Science
مواضيع طبية MeSH: Alzheimer Disease/*pathology , Induced Pluripotent Stem Cells/*metabolism , Neural Stem Cells/*metabolism , Presenilin-1/*metabolism, Adaptor Proteins, Signal Transducing/genetics ; Amyloid beta-Peptides/biosynthesis ; Animals ; Apolipoproteins E/genetics ; Apoptosis Regulatory Proteins ; Base Sequence ; Brain/cytology ; Brain/pathology ; Cell Differentiation ; Cell Line ; Eye Proteins/genetics ; Gene Expression Profiling ; Gene Expression Regulation ; Genotype ; Humans ; Mutation ; Nerve Tissue Proteins/genetics ; Neurons/cytology ; Neurons/pathology ; Peptide Fragments/biosynthesis ; Presenilin-1/genetics ; Rats ; Suppressor of Cytokine Signaling Proteins/genetics
مستخلص: Presenilin 1 (PSEN1) encodes the catalytic subunit of γ-secretase, and PSEN1 mutations are the most common cause of early onset familial Alzheimer's disease (FAD). In order to elucidate pathways downstream of PSEN1, we characterized neural progenitor cells (NPCs) derived from FAD mutant PSEN1 subjects. Thus, we generated induced pluripotent stem cells (iPSCs) from affected and unaffected individuals from two families carrying PSEN1 mutations. PSEN1 mutant fibroblasts, and NPCs produced greater ratios of Aβ42 to Aβ40 relative to their control counterparts, with the elevated ratio even more apparent in PSEN1 NPCs than in fibroblasts. Molecular profiling identified 14 genes differentially-regulated in PSEN1 NPCs relative to control NPCs. Five of these targets showed differential expression in late onset AD/Intermediate AD pathology brains. Therefore, in our PSEN1 iPSC model, we have reconstituted an essential feature in the molecular pathogenesis of FAD, increased generation of Aβ42/40, and have characterized novel expression changes.
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معلومات مُعتمدة: K12 GM068524 United States GM NIGMS NIH HHS; P01AG07232 United States AG NIA NIH HHS; R01 MH091844 United States MH NIMH NIH HHS; R01 NS049442 United States NS NINDS NIH HHS; R01AG037212 United States AG NIA NIH HHS; R01MH091844 United States MH NIMH NIH HHS; P50AG08702 United States AG NIA NIH HHS; R21AG042965 United States AG NIA NIH HHS; U01 AG046170 United States AG NIA NIH HHS; P50 AG008702 United States AG NIA NIH HHS; P01 AG007232 United States AG NIA NIH HHS; RF1 AG042965 United States AG NIA NIH HHS; 1U01AG046170-01 United States AG NIA NIH HHS; NS049442 United States NS NINDS NIH HHS; P50 AG005138 United States AG NIA NIH HHS; R01 AG037212 United States AG NIA NIH HHS
المشرفين على المادة: 0 (ASB9 protein, human)
0 (Adaptor Proteins, Signal Transducing)
0 (Amyloid beta-Peptides)
0 (Apolipoproteins E)
0 (Apoptosis Regulatory Proteins)
0 (Eye Proteins)
0 (NDP protein, human)
0 (NLRP2 protein, human)
0 (Nerve Tissue Proteins)
0 (Peptide Fragments)
0 (Presenilin-1)
0 (Suppressor of Cytokine Signaling Proteins)
0 (amyloid beta-protein (1-40))
0 (amyloid beta-protein (1-42))
تواريخ الأحداث: Date Created: 20140114 Date Completed: 20140910 Latest Revision: 20220409
رمز التحديث: 20240513
مُعرف محوري في PubMed: PMC3885572
DOI: 10.1371/journal.pone.0084547
PMID: 24416243
قاعدة البيانات: MEDLINE
الوصف
تدمد:1932-6203
DOI:10.1371/journal.pone.0084547