Cholinergic-like neurons and cerebral spheroids bearing the PSEN1 p.Ile416Thr variant mirror Alzheimer's disease neuropathology

[1]  Jingde Wu,et al.  Recent advances of small molecule JNK3 inhibitors for Alzheimer's disease. , 2022, Bioorganic chemistry.

[2]  R. Nixon,et al.  Faulty autolysosome acidification in Alzheimer’s disease mouse models induces autophagic build-up of Aβ in neurons, yielding senile plaques , 2022, Nature Neuroscience.

[3]  J. Ghiso,et al.  N-terminally truncated Aβ4-x proteoforms and their relevance for Alzheimer’s pathophysiology , 2022, Translational neurodegeneration.

[4]  Md. Fayad Hasan,et al.  Advances in Recapitulating Alzheimer’s Disease Phenotypes Using Human Induced Pluripotent Stem Cell-Based In Vitro Models , 2022, Brain sciences.

[5]  David Marks,et al.  Role of Intracellular Amyloid β as Pathway Modulator, Biomarker, and Therapy Target , 2022, International journal of molecular sciences.

[6]  M. Wolfe,et al.  Mechanism of Tripeptide Trimming of Amyloid β-Peptide 49 by γ-Secretase. , 2022, Journal of the American Chemical Society.

[7]  Nick C Fox,et al.  Aβ profiles generated by Alzheimer’s disease causing PSEN1 variants determine the pathogenicity of the mutation and predict age at disease onset , 2022, Molecular Psychiatry.

[8]  J. Hur.  γ-Secretase in Alzheimer’s disease , 2022, Experimental & Molecular Medicine.

[9]  E. Reiman,et al.  A neurodegenerative disease landscape of rare mutations in Colombia due to founder effects , 2022, Genome medicine.

[10]  M. Jimenez-Del-Rio,et al.  (−)-Epigallocatechin-3-Gallate Diminishes Intra-and Extracellular Amyloid-Induced Cytotoxic Effects on Cholinergic-like Neurons from Familial Alzheimer’s Disease PSEN1 E280A , 2021, Biomolecules.

[11]  Zheng Yan,et al.  Advances in Modeling Alzheimer's Disease In Vitro , 2021, Advanced NanoBiomed Research.

[12]  M. Jimenez-Del-Rio,et al.  Latent Tri-lineage Potential of Human Menstrual Blood–Derived Mesenchymal Stromal Cells Revealed by Specific In Vitro Culture Conditions , 2021, Molecular Neurobiology.

[13]  Keith A. Johnson,et al.  Amyloid-β and tau pathologies relate to distinctive brain dysconnectomics in preclinical autosomal-dominant Alzheimer’s disease , 2021, bioRxiv.

[14]  H. Okazawa.  Intracellular amyloid hypothesis for ultra‐early phase pathology of Alzheimer's disease , 2021, Neuropathology : official journal of the Japanese Society of Neuropathology.

[15]  Mei Li.  The role of P53 up-regulated modulator of apoptosis (PUMA) in ovarian development, cardiovascular and neurodegenerative diseases , 2021, Apoptosis.

[16]  Justin S. Sanchez,et al.  Longitudinal amyloid and tau accumulation in autosomal dominant Alzheimer’s disease: findings from the Colombia-Boston (COLBOS) biomarker study , 2021, Alzheimer's research & therapy.

[17]  Justin S. Sanchez,et al.  Cortical thickness across the lifespan in a Colombian cohort with autosomal‐dominant Alzheimer's disease: A cross‐sectional study , 2021, Alzheimer's & dementia.

[18]  S. Sikkes,et al.  Trajectory of Unawareness of Memory Decline in Individuals With Autosomal Dominant Alzheimer Disease , 2020, JAMA network open.

[19]  J. Morris,et al.  Dominantly inherited Alzheimer's disease in Latin America: Genetic heterogeneity and clinical phenotypes , 2020, Alzheimer's & dementia : the journal of the Alzheimer's Association.

[20]  F. Lopera,et al.  Retinal Imaging Findings in Carriers With PSEN1-Associated Early-Onset Familial Alzheimer Disease Before Onset of Cognitive Symptoms. , 2020, JAMA ophthalmology.

[21]  Daniel B. McClatchy,et al.  Intracellular amyloid toxicity induces oxytosis/ferroptosis regulated cell death , 2020, Cell Death & Disease.

[22]  K. Blennow,et al.  Discriminative Accuracy of Plasma Phospho-tau217 for Alzheimer Disease vs Other Neurodegenerative Disorders. , 2020, JAMA.

[23]  J. Streffer,et al.  Decreased Deposition of Beta-Amyloid 1-38 and Increased Deposition of Beta-Amyloid 1-42 in Brain Tissue of Presenilin-1 E280A Familial Alzheimer’s Disease Patients , 2020, Frontiers in Aging Neuroscience.

[24]  A. Zarnani,et al.  Endometrial and Menstrual Blood Mesenchymal Stem/Stromal Cells: Biological Properties and Clinical Application , 2020, Frontiers in Cell and Developmental Biology.

[25]  J. Attems,et al.  Correlation of pyroglutamate amyloid β and ptau Ser202/Thr205 levels in Alzheimer’s disease and related murine models , 2020, PloS one.

[26]  F. Lopera,et al.  Cholinergic-like neurons carrying PSEN1 E280A mutation from familial Alzheimer’s disease reveal intraneuronal sAPPβ fragments accumulation, hyperphosphorylation of TAU, oxidative stress, apoptosis and Ca2+ dysregulation: Therapeutic implications , 2020, PloS one.

[27]  P. Tariot,et al.  Baseline demographic, clinical, and cognitive characteristics of the Alzheimer's Prevention Initiative (API) Autosomal‐Dominant Alzheimer's Disease Colombia Trial , 2020, Alzheimer's & dementia : the journal of the Alzheimer's Association.

[28]  B. Rossi,et al.  In vitro Models of Neurodegenerative Diseases , 2020, Frontiers in Cell and Developmental Biology.

[29]  H. Steiner,et al.  Substrate recruitment by γ-secretase. , 2020, Seminars in cell & developmental biology.

[30]  Yigong Shi,et al.  Macromolecular complex in recognition and proteolysis of amyloid precursor protein in Alzheimer's disease. , 2020, Current opinion in structural biology.

[31]  A. Goate,et al.  Novel presenilin 1 and 2 double knock-out cell line for in vitro validation of PSEN1 and PSEN2 mutations , 2020, Neurobiology of Disease.

[32]  I. Martin,et al.  Mesenchymal stem versus stromal cells: International Society for Cellular Therapy Mesenchymal Stromal Cell committee position statement on nomenclature. , 2019, Cytotherapy.

[33]  V. Zachariou,et al.  Reasons for Failed Trials of Disease-Modifying Treatments for Alzheimer Disease and Their Contribution in Recent Research , 2019, Biomedicines.

[34]  R. Vandenberghe,et al.  Aβ-induced acceleration of Alzheimer-related τ-pathology spreading and its association with prion protein , 2019, Acta Neuropathologica.

[35]  M. Wolfe.  Structure and Function of the γ-Secretase Complex. , 2019, Biochemistry.

[36]  K. Kosik,et al.  iPSCs-derived nerve-like cells from familial Alzheimer’s disease PSEN 1 E280A reveal increased amyloid-beta levels and loss of the Y chromosome , 2019, Neuroscience Letters.

[37]  F. Lopera,et al.  Generation of one iPSC line (IMEDEAi006-A) from an early-onset familial Alzheimer's Disease (fAD) patient carrying the E280A mutation in the PSEN1 gene. , 2019, Stem cell research.

[38]  R. Myers,et al.  Genetic origin of a large family with a novel PSEN1 mutation (Ile416Thr) , 2019, Alzheimer's & Dementia.

[39]  U. Mau-Holzmann,et al.  Generation of two isogenic iPSC lines with either a heterozygous or a homozygous E280A mutation in the PSEN1 gene. , 2019, Stem cell research.

[40]  M. Jimenez-Del-Rio,et al.  Direct transdifferentiation of human Wharton’s jelly mesenchymal stromal cells into cholinergic-like neurons , 2019, Journal of Neuroscience Methods.

[41]  K. Cheung,et al.  Calcium signaling in Alzheimer's disease & therapies. , 2018, Biochimica et biophysica acta. Molecular cell research.

[42]  T. Freund,et al.  Evidence of intraneuronal Aβ accumulation preceding tau pathology in the entorhinal cortex , 2018, Acta Neuropathologica.

[43]  E. Chisci,et al.  The Role of Hydrogen Peroxide in Redox-Dependent Signaling: Homeostatic and Pathological Responses in Mammalian Cells , 2018, Cells.

[44]  A. Khan,et al.  Evolutionary History of Alzheimer Disease-Causing Protein Family Presenilins with Pathological Implications , 2018, Journal of Molecular Evolution.

[45]  N. Sawamura,et al.  Cholinergic receptor, nicotinic, alpha 7 as a target molecule of Arctic mutant amyloid β , 2018, Neural regeneration research.

[46]  J. Attems,et al.  Phosphorylation of different tau sites during progression of Alzheimer’s disease , 2018, Acta Neuropathologica Communications.

[47]  Keith A. Johnson,et al.  Association Between Amyloid and Tau Accumulation in Young Adults With Autosomal Dominant Alzheimer Disease , 2018, JAMA neurology.

[48]  L. Schneider,et al.  The Alzheimer's Prevention Initiative Autosomal-Dominant Alzheimer's Disease Trial: A study of crenezumab versus placebo in preclinical PSEN1 E280A mutation carriers to evaluate efficacy and safety in the treatment of autosomal-dominant Alzheimer's disease, including a placebo-treated noncarrier coh , 2018, Alzheimer's & dementia.

[49]  Juntang Lin,et al.  Biological characteristics of human menstrual blood‐derived endometrial stem cells , 2017, Journal of cellular and molecular medicine.

[50]  Jue Wang,et al.  Construction of engineered corpus cavernosum with primary mesenchymal stem cells in vitro , 2017, Scientific Reports.

[51]  Yan Zhang,et al.  The genes associated with early-onset Alzheimer’s disease , 2017, Oncotarget.

[52]  A. Strasser,et al.  How does p53 induce apoptosis and how does this relate to p53-mediated tumour suppression? , 2017, Cell Death and Differentiation.

[53]  Yigong Shi,et al.  Dominant negative effect of the loss-of-function γ-secretase mutants on the wild-type enzyme through heterooligomerization , 2017, Proceedings of the National Academy of Sciences.

[54]  Stanley E Lazic,et al.  What exactly is ‘N’ in cell culture and animal experiments? , 2017, bioRxiv.

[55]  F. Pistollato,et al.  Protocol for the Differentiation of Human Induced Pluripotent Stem Cells into Mixed Cultures of Neurons and Glia for Neurotoxicity Testing , 2017, Journal of visualized experiments : JoVE.

[56]  A. Bonilla-Porras,et al.  Fast transdifferentiation of human Wharton’s jelly mesenchymal stem cells into neurospheres and nerve-like cells , 2017, Journal of Neuroscience Methods.

[57]  Toshitaka Nagao,et al.  Plaque formation and the intraneuronal accumulation of β‐amyloid in Alzheimer's disease , 2017, Pathology international.

[58]  Aysun Adan,et al.  Flow cytometry: basic principles and applications , 2017, Critical reviews in biotechnology.

[59]  C. Soto,et al.  Increased susceptibility to Aβ toxicity in neuronal cultures derived from familial Alzheimer’s disease (PSEN1-A246E) induced pluripotent stem cells , 2017, Neuroscience Letters.

[60]  Yigong Shi,et al.  Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by γ-secretase , 2016, Proceedings of the National Academy of Sciences.

[61]  Guilai Shi,et al.  Early pathogenic event of Alzheimer’s disease documented in iPSCs from patients with PSEN1 mutations , 2016, Oncotarget.

[62]  J. Bonifacino,et al.  Restricted Location of PSEN2/γ-Secretase Determines Substrate Specificity and Generates an Intracellular Aβ Pool , 2016, Cell.

[63]  M. Wolfe,et al.  Sorting Out Presenilins in Alzheimer’s Disease , 2016, Cell.

[64]  I. Dewachter,et al.  Models of β-amyloid induced Tau-pathology: the long and “folded” road to understand the mechanism , 2014, Molecular Neurodegeneration.

[65]  M. Obulesu,et al.  Apoptosis in Alzheimer’s Disease: An Understanding of the Physiology, Pathology and Therapeutic Avenues , 2014, Neurochemical Research.

[66]  J. Roach,et al.  Origin of the PSEN1 E280A mutation causing early-onset Alzheimer's disease , 2014, Alzheimer's & Dementia.

[67]  Madeline A. Lancaster,et al.  Generation of cerebral organoids from human pluripotent stem cells , 2014, Nature Protocols.

[68]  Hui-qing Zhao,et al.  c-Jun transactivates Puma gene expression to promote osteoarthritis. , 2014, Molecular medicine reports.

[69]  Fernando Antunes,et al.  Hydrogen peroxide sensing, signaling and regulation of transcription factors , 2014, Redox biology.

[70]  Q. Saquib,et al.  Rotenone-induced oxidative stress and apoptosis in human liver HepG2 cells , 2013, Molecular and Cellular Biochemistry.

[71]  Katsuhiro Yoshikawa,et al.  Modeling Alzheimer's disease with iPSCs reveals stress phenotypes associated with intracellular Aβ and differential drug responsiveness. , 2013, Cell stem cell.

[72]  Xu Wu,et al.  Dissimilar characteristics of umbilical cord mesenchymal stem cells from donors of different ages , 2013, Cell and Tissue Banking.

[73]  Ellen C. Jensen*.  Quantitative Analysis of Histological Staining and Fluorescence Using ImageJ , 2013, Anatomical record.

[74]  Johannes E. Schindelin,et al.  Fiji: an open-source platform for biological-image analysis , 2012, Nature Methods.

[75]  I. Mook‐Jung,et al.  Mitochondria-Specific Accumulation of Amyloid β Induces Mitochondrial Dysfunction Leading to Apoptotic Cell Death , 2012, PloS one.

[76]  C. Vivar,et al.  Physiology and Pathology of Calcium Signaling in the Brain , 2012, Front. Pharmacol..

[77]  E. Capetillo-Zarate,et al.  Intraneuronal Aβ Accumulation, Amyloid Plaques, and Synapse Pathology in Alzheimer’s Disease , 2012, Neurodegenerative Diseases.

[78]  Á. Kőszeghy,et al.  Cytoplasmic Ca2+ concentration changes evoked by cholinergic stimulation in primary astrocyte cultures prepared from the rat cochlear nucleus , 2009, Hearing Research.

[79]  Andrew King,et al.  Staging of Neurofibrillary Pathology in Alzheimer's Disease: A Study of the BrainNet Europe Consortium , 2008, Brain pathology.

[80]  M. Arcila,et al.  Activation of apoptosis, but not necrosis, during Mycobacterium tuberculosis infection correlated with decreased bacterial growth: role of TNF-alpha, IL-10, caspases and phospholipase A2. , 2007, Cellular immunology.

[81]  Kim N. Green,et al.  Intracellular amyloid-β in Alzheimer's disease , 2007, Nature Reviews Neuroscience.

[82]  D. Bertrand,et al.  Nicotinic acetylcholine receptors and nicotinic cholinergic mechanisms of the central nervous system. , 2007, Annual review of pharmacology and toxicology.

[83]  T. Bayer,et al.  A modified β‐amyloid hypothesis: intraneuronal accumulation of the β‐amyloid peptide – the first step of a fatal cascade , 2004, Journal of neurochemistry.

[84]  J. Arellano,et al.  CA1 Hippocampal Neuronal Loss in Familial Alzheimer's Disease Presenilin‐1 E280A Mutation Is Related to Epilepsy , 2004, Epilepsia.

[85]  Tomoya Kinumi,et al.  Cysteine-106 of DJ-1 is the most sensitive cysteine residue to hydrogen peroxide-mediated oxidation in vivo in human umbilical vein endothelial cells. , 2004, Biochemical and biophysical research communications.

[86]  F. Lopera,et al.  Neuropsychological stydy of familial Alzheimer's disease caused by mutation E280A in the presenilin 1 gene , 2003, American journal of Alzheimer's disease and other dementias.

[87]  S. Rhee.  Redox signaling: hydrogen peroxide as intracellular messenger , 1999, Experimental & Molecular Medicine.

[88]  D. Selkoe,et al.  Two transmembrane aspartates in presenilin-1 required for presenilin endoproteolysis and γ-secretase activity , 1999, Nature.

[89]  E. Bossy‐Wetzel,et al.  Induction of apoptosis by the transcription factor c‐Jun , 1997, The EMBO journal.

[90]  A. Ruiz-Linares,et al.  Clinical Features of Early-Onset Alzheimer Disease in a Large Kindred With an E280A Presenilin-1 Mutation , 1997 .

[91]  D. Pollen,et al.  Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease , 1995, Nature.

[92]  E. Kosenko,et al.  Critical analysis of Alzheimer's amyloid-beta toxicity to mitochondria. , 2015, Frontiers in bioscience.

[93]  D. Prockop,et al.  Minimal criteria for defining multipotent mesenchymal stromal cells. The International Society for Cellular Therapy position statement. , 2006, Cytotherapy.

[94]  J. Lichtman,et al.  Fluorescence microscopy , 2005 .

[95]  M. Adams,et al.  The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families , 1995, Nature Genetics.