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Academic Journal

Single-nucleus RNA sequencing demonstrates an autosomal dominant Alzheimer's disease profile and possible mechanisms of disease protection.

  • Authors : Almeida MC; Neuroscience Research Institute and Department of Molecular, Cellular and Developmental Biology, University of California, Santa Barbara, Santa Barbara, CA 93106, USA; Center for Natural and Humans Sciences, Federal University of ABC, Sao Bernardo do Campo, SP 09608020, Brazil.

Subjects: Alzheimer Disease*/Alzheimer Disease*/Alzheimer Disease*/genetics ; Alzheimer Disease*/Alzheimer Disease*/Alzheimer Disease*/metabolism ; Alzheimer Disease*/Alzheimer Disease*/Alzheimer Disease*/pathology

  • Source: Neuron [Neuron] 2024 Jun 05; Vol. 112 (11), pp. 1778-1794.e7. Date of Electronic Publication: 2024 Feb 27.Publisher: Cell Press Country of Publication: United States NLM ID: 8809320 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

Cerebral organoids derived from patients with Alzheimer's disease with PSEN1/2 mutations have defective tissue patterning and altered development.

  • Authors : Vanova T; Department of Histology and Embryology, Faculty of Medicine, Masaryk University, 62500 Brno, Czech Republic; International Clinical Research Center (ICRC), St. Anne's University Hospital, 60200 Brno, Czech Republic.

Subjects: Alzheimer Disease*/Alzheimer Disease*/Alzheimer Disease*/genetics ; Alzheimer Disease*/Alzheimer Disease*/Alzheimer Disease*/pathology ; Presenilin-1*/Presenilin-1*/Presenilin-1*/genetics

  • Source: Cell reports [Cell Rep] 2023 Nov 28; Vol. 42 (11), pp. 113310. Date of Electronic Publication: 2023 Oct 20.Publisher: Cell Press Country of Publication: United States NLM ID: 101573691 Publication Model: Print-Electronic Cited

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Academic Journal

Familial Alzheimer's Disease Mutations in PSEN1 Lead to Premature Human Stem Cell Neurogenesis.

  • Authors : Arber C; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, UK. Electronic address: .; Lovejoy C

Subjects: Mutation*; Alzheimer Disease/Alzheimer Disease/Alzheimer Disease/*genetics ; Neural Stem Cells/Neural Stem Cells/Neural Stem Cells/*pathology

  • Source: Cell reports [Cell Rep] 2021 Jan 12; Vol. 34 (2), pp. 108615.Publisher: Cell Press Country of Publication: United States NLM ID: 101573691 Publication Model: Print Cited Medium:

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Academic Journal

PSEN1ΔE9, APPswe, and APOE4 Confer Disparate Phenotypes in Human iPSC-Derived Microglia.

Subjects: Phenotype*; Amyloid beta-Protein Precursor/Amyloid beta-Protein Precursor/Amyloid beta-Protein Precursor/*genetics ; Apolipoprotein E4/Apolipoprotein E4/Apolipoprotein E4/*genetics

  • Source: Stem cell reports [Stem Cell Reports] 2019 Oct 08; Vol. 13 (4), pp. 669-683. Date of Electronic Publication: 2019 Sep 12.Publisher: Cell Press Country of Publication: United States NLM ID: 101611300 Publication Model: Print-Electronic Cited

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Academic Journal

Loss of Aβ43 Production Caused by Presenilin-1 Mutations in the Knockin Mouse Brain.

  • Authors : Xia D; Department of Neurology, Brigham & Women's Hospital, Harvard Medical School, Boston, MA 02115, USA; Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA.

Subjects: Gene Knock-In Techniques* ; Mutation*; Amyloid beta-Peptides/Amyloid beta-Peptides/Amyloid beta-Peptides/*metabolism

  • Source: Neuron [Neuron] 2016 Apr 20; Vol. 90 (2), pp. 417-22.Publisher: Cell Press Country of Publication: United States NLM ID: 8809320 Publication Model: Print Cited Medium:

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Academic Journal

Presenilin-1 knockin mice reveal loss-of-function mechanism for familial Alzheimer's disease.

  • Authors : Xia D; Center for Neurologic Diseases, Department of Neurology, Brigham & Women's Hospital, Harvard Medical School, Boston, MA 02115, USA; Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA.

Subjects: Gene Knock-In Techniques*/Gene Knock-In Techniques*/Gene Knock-In Techniques*/methods; Alzheimer Disease/Alzheimer Disease/Alzheimer Disease/*genetics ; Alzheimer Disease/Alzheimer Disease/Alzheimer Disease/*metabolism

  • Source: Neuron [Neuron] 2015 Mar 04; Vol. 85 (5), pp. 967-81.Publisher: Cell Press Country of Publication: United States NLM ID: 8809320 Publication Model: Print Cited Medium:

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Academic Journal

More than a FAD: the in vivo effects of disease-linked presenilin-1 mutations.

  • Authors : Zahs KR; N. Bud Grossman Center for Memory Research and Care, University of Minnesota Medical School, Minneapolis, MN 55455, USA; Department of Neurology, University of Minnesota Medical School, Minneapolis, MN 55455, USA.

Subjects: Gene Knock-In Techniques*; Alzheimer Disease/Alzheimer Disease/Alzheimer Disease/*genetics ; Alzheimer Disease/Alzheimer Disease/Alzheimer Disease/*metabolism

  • Source: Neuron [Neuron] 2015 Mar 04; Vol. 85 (5), pp. 893-5.Publisher: Cell Press Country of Publication: United States NLM ID: 8809320 Publication Model: Print Cited Medium:

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Academic Journal

Alzheimer's-Causing Mutations Shift Aβ Length by Destabilizing γ-Secretase-Aβn Interactions.

  • Authors : Szaruga M; KU Leuven-VIB Center for Brain & Disease Research, VIB, 3000 Leuven, Belgium; Department of Neurosciences, Leuven Institute for Neuroscience and Disease, KU Leuven, 3000 Leuven, Belgium.

Subjects: Alzheimer Disease/Alzheimer Disease/Alzheimer Disease/*enzymology ; Alzheimer Disease/Alzheimer Disease/Alzheimer Disease/*genetics ; Amyloid beta-Protein Precursor/Amyloid beta-Protein Precursor/Amyloid beta-Protein Precursor/*metabolism

  • Source: Cell [Cell] 2017 Jul 27; Vol. 170 (3), pp. 443-456.e14.Publisher: Cell Press Country of Publication: United States NLM ID: 0413066 Publication Model: Print Cited Medium:

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Academic Journal

The presenilin-1 ΔE9 mutation results in reduced γ-secretase activity, but not total loss of PS1 function, in isogenic human stem cells.

  • Authors : Woodruff G; Department of Cellular and Molecular Medicine, Institute for Genomic Medicine and Institute of Engineering in Medicine, University of California, San Diego, La Jolla, CA 92093, USA.; Young JE

Subjects: Amyloid Precursor Protein Secretases/Amyloid Precursor Protein Secretases/Amyloid Precursor Protein Secretases/*genetics ; Neurogenesis/Neurogenesis/Neurogenesis/*genetics ; Pluripotent Stem Cells/Pluripotent Stem Cells/Pluripotent Stem Cells/*enzymology

  • Source: Cell reports [Cell Rep] 2013 Nov 27; Vol. 5 (4), pp. 974-85. Date of Electronic Publication: 2013 Nov 14.Publisher: Cell Press Country of Publication: United States NLM ID: 101573691 Publication Model: Print-Electronic Cited

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Academic Journal

Presenilin 1 Maintains Lysosomal Ca(2+) Homeostasis via TRPML1 by Regulating vATPase-Mediated Lysosome Acidification.

  • Authors : Lee JH; Center for Dementia Research, Nathan S. Kline Institute, Orangeburg, NY 10962, USA; Department of Psychiatry, New York University, New York, NY 10016, USA.

Subjects: Calcium/Calcium/Calcium/*metabolism ; Lysosomes/Lysosomes/Lysosomes/*metabolism ; Presenilin-1/Presenilin-1/Presenilin-1/*metabolism

  • Source: Cell reports [Cell Rep] 2015 Sep 01; Vol. 12 (9), pp. 1430-44. Date of Electronic Publication: 2015 Aug 20.Publisher: Cell Press Country of Publication: United States NLM ID: 101573691 Publication Model: Print-Electronic Cited

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  • 1-10 of  164 results for ""Presenilin-1""