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Presenilin-1 mutations and Alzheimer’s disease

Proceedings of the National Academy of Sciences - PNAS, 2017-01, Vol.114 (4), p.629-631

2017

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Presenilin-1 Knockin Mice Reveal Loss-of-Function Mechanism for Familial Alzheimer’s Disease

Neuron (Cambridge, Mass.), 2015-03, Vol.85 (5), p.967-981

2015

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presenilin hypothesis of Alzheimer's disease: Evidence for a loss-of-function pathogenic mechanism

Proceedings of the National Academy of Sciences - PNAS, 2007-01, Vol.104 (2), p.403-409

2007

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Loss of leucine-rich repeat kinase 2 causes impairment of protein degradation pathways, accumulation of α-synuclein, and apoptotic cell death in aged mice

Proceedings of the National Academy of Sciences - PNAS, 2010-05, Vol.107 (21), p.9879-9884

2010

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

Neuron (Cambridge, Mass.), 2016-04, Vol.90 (2), p.417-422

2016

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High-throughput sequencing of mGluR signaling pathway genes reveals enrichment of rare variants in autism

PloS one, 2012-04, Vol.7 (4), p.e35003-e35003

2012

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Tsx produces a long noncoding RNA and has general functions in the germline, stem cells, and brain

PLoS genetics, 2011-09, Vol.7 (9), p.e1002248

2011

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Developing a Gene Therapy for the Treatment of Autosomal Dominant Alzheimer's Disease

Human gene therapy, 2023-10, Vol.34 (19-20), p.1049-1063

2023

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A mixed modality approach towards Xi reactivation for Rett syndrome and other X-linked disorders

Proceedings of the National Academy of Sciences - PNAS, 2018-01, Vol.115 (4), p.E668-E675

2018

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The Autistic Neuron: Troubled Translation?

Cell, 2008-10, Vol.135 (3), p.401-406

2008

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Translational Regulatory Mechanisms in Persistent Forms of Synaptic Plasticity

Neuron, 2004-09, Vol.44 (1), p.59-73

2004

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Humanized mouse model of ovarian cancer recapitulates patient solid tumor progression, ascites formation, and metastasis

PloS one, 2011-09, Vol.6 (9), p.e24420-e24420

2011

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Translational Control by MAPK Signaling in Long-Term Synaptic Plasticity and Memory

Cell, 2004-02, Vol.116 (3), p.467-479

2004

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A clustered plasticity model of long-term memory engrams

Nature reviews. Neuroscience, 2006-07, Vol.7 (7), p.575-583

2006

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Novel phosphatidylserine-binding molecule enhances antitumor T-cell responses by targeting immunosuppressive exosomes in human tumor microenvironments

Journal for immunotherapy of cancer, 2021-10, Vol.9 (10), p.e003148

2021

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Sialic Acid-Dependent Inhibition of T Cells by Exosomal Ganglioside GD3 in Ovarian Tumor Microenvironments

The Journal of immunology (1950), 2018-12, Vol.201 (12), p.3750-3758

2018

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A Presenilin-1 Mutation Identified in Familial Alzheimer Disease with Cotton Wool Plaques Causes a Nearly Complete Loss of γ-Secretase Activity

The Journal of biological chemistry, 2010-07, Vol.285 (29), p.22350-22359

2010

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Characterization of age-dependent and progressive cortical neuronal degeneration in presenilin conditional mutant mice

PloS one, 2010-04, Vol.5 (4), p.e10195-e10195

2010

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Characterization of Human Lung Tumor-Associated Fibroblasts and Their Ability to Modulate the Activation of Tumor-Associated T Cells

Journal of Immunology, 2007-05, Vol.178 (9), p.5552-5562

2007

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Exosomes Represent an Immune Suppressive T Cell Checkpoint in Human Chronic Inflammatory Microenvironments

Immunological investigations, 2020-10, Vol.49 (7), p.726-743

2020

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Loss of Presenilin Function Causes Impairments of Memory and Synaptic Plasticity Followed by Age-Dependent Neurodegeneration

Neuron (Cambridge, Mass.), 2004-04, Vol.42 (1), p.23-36

2004

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Tissue- and cell-type-specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models

American journal of human genetics, 2022-10, Vol.109 (10), p.1789-1813

2022

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Tsix–Mecp2 female mouse model for Rett syndrome reveals that low-level MECP2 expression extends life and improves neuromotor function

Proceedings of the National Academy of Sciences - PNAS, 2018-08, Vol.115 (32), p.8185-8190

2018

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Trans-dominant negative effects of pathogenic PSEN1 mutations on γ-secretase activity and Aβ production

The Journal of neuroscience, 2013-07, Vol.33 (28), p.11606-11617

2013

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Extracellular Vesicles Present in Human Ovarian Tumor Microenvironments Induce a Phosphatidylserine-Dependent Arrest in the T-cell Signaling Cascade

Cancer immunology research, 2015-11, Vol.3 (11), p.1269-1278

2015

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Presenilin-1 mutations and Alzheimer’s disease

Presenilin-1 Knockin Mice Reveal Loss-of-Function Mechanism for Familial Alzheimer’s Disease

presenilin hypothesis of Alzheimer's disease: Evidence for a loss-of-function pathogenic mechanism

Loss of leucine-rich repeat kinase 2 causes impairment of protein degradation pathways, accumulation of α-synuclein, and apoptotic cell death in aged mice

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

High-throughput sequencing of mGluR signaling pathway genes reveals enrichment of rare variants in autism

Tsx produces a long noncoding RNA and has general functions in the germline, stem cells, and brain

Developing a Gene Therapy for the Treatment of Autosomal Dominant Alzheimer's Disease

A mixed modality approach towards Xi reactivation for Rett syndrome and other X-linked disorders

The Autistic Neuron: Troubled Translation?

Translational Regulatory Mechanisms in Persistent Forms of Synaptic Plasticity

Humanized mouse model of ovarian cancer recapitulates patient solid tumor progression, ascites formation, and metastasis

Translational Control by MAPK Signaling in Long-Term Synaptic Plasticity and Memory

A clustered plasticity model of long-term memory engrams

Novel phosphatidylserine-binding molecule enhances antitumor T-cell responses by targeting immunosuppressive exosomes in human tumor microenvironments

Sialic Acid-Dependent Inhibition of T Cells by Exosomal Ganglioside GD3 in Ovarian Tumor Microenvironments

A Presenilin-1 Mutation Identified in Familial Alzheimer Disease with Cotton Wool Plaques Causes a Nearly Complete Loss of γ-Secretase Activity

Characterization of age-dependent and progressive cortical neuronal degeneration in presenilin conditional mutant mice

Characterization of Human Lung Tumor-Associated Fibroblasts and Their Ability to Modulate the Activation of Tumor-Associated T Cells

Exosomes Represent an Immune Suppressive T Cell Checkpoint in Human Chronic Inflammatory Microenvironments

Loss of Presenilin Function Causes Impairments of Memory and Synaptic Plasticity Followed by Age-Dependent Neurodegeneration

Tissue- and cell-type-specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models

Tsix–Mecp2 female mouse model for Rett syndrome reveals that low-level MECP2 expression extends life and improves neuromotor function

Trans-dominant negative effects of pathogenic PSEN1 mutations on γ-secretase activity and Aβ production

Extracellular Vesicles Present in Human Ovarian Tumor Microenvironments Induce a Phosphatidylserine-Dependent Arrest in the T-cell Signaling Cascade

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