Search Results - "Arias‐Fuenzalida, Jonathan"
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Parkinson's Disease Phenotypes in Patient Neuronal Cultures and Brain Organoids Improved by 2‐Hydroxypropyl‐β‐Cyclodextrin Treatment
Published in Movement disorders (01-01-2022)“…ABSTRACT Background The etiology of Parkinson's disease (PD) is only partially understood despite the fact that environmental causes, risk factors, and…”
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Generation of nonviral integration-free human iPS cell line KISCOi001-A from normal human fibroblasts, under defined xeno-free and feeder-free conditions
Published in Stem cell research (01-03-2021)“…KISCOi001-A is a healthy feeder-free and fully characterized human induced pluripotent stem (iPS) cell line cultured under xeno-free and defined conditions…”
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CRISPR/Cas9 and piggyBac-mediated footprint-free LRRK2-G2019S knock-in reveals neuronal complexity phenotypes and α-Synuclein modulation in dopaminergic neurons
Published in Stem cell research (01-10-2017)“…The p.G2019S mutation of the leucine-rich repeat kinase 2 (LRRK2) has been identified as the most prevalent genetic cause of familial and sporadic Parkinson's…”
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FACS-Assisted CRISPR-Cas9 Genome Editing Facilitates Parkinson's Disease Modeling
Published in Stem cell reports (14-11-2017)“…Genome editing and human induced pluripotent stem cells hold great promise for the development of isogenic disease models and the correction of…”
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Neural Stem Cells of Parkinson's Disease Patients Exhibit Aberrant Mitochondrial Morphology and Functionality
Published in Stem cell reports (14-05-2019)“…Emerging evidence suggests that Parkinson's disease (PD), besides being an age-associated disorder, might also have a neurodevelopment component. Disruption of…”
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Automated high-throughput high-content autophagy and mitophagy analysis platform
Published in Scientific reports (01-07-2019)“…Autophagic processes play a central role in cellular homeostasis. In pathological conditions, the flow of autophagy can be affected at multiple and distinct…”
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Synapse alterations precede neuronal damage and storage pathology in a human cerebral organoid model of CLN3-juvenile neuronal ceroid lipofuscinosis
Published in Acta neuropathologica communications (30-12-2019)“…The juvenile form of neuronal ceroid Lipofuscinosis (JNCL) is the most common form within this group of rare lysosomal storage disorders, causing pediatric…”
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Generation of a human induced pluripotent stem cell line (PHAi003) from a primary immunodeficient patient with CD70 mutation
Published in Stem cell research (01-12-2019)“…Primary immunodeficiency (PID) comprises a heterogeneous group of over 330 genetic disorders, caused mainly by single-gene mutations, such as CD70. We…”
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Generation of human induced pluripotent stem cell lines from patients with selective IgA deficiency
Published in Stem cell research (01-12-2019)“…Selective immunoglobulin-A deficiency (IgAD) is the most common primary immunodeficiency (PID) in the Western world and results in higher susceptibility to…”
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The Effects of Ganglioside-Monosialic Acid in Taxane-Induced Peripheral Neurotoxicity in Patients with Breast Cancer: A Randomized Trial
Published in JNCI : Journal of the National Cancer Institute (01-01-2020)“…Abstract Background Taxane-induced peripheral neuropathy (TIPN) is a dose-limiting adverse effect. Ganglioside-monosialic acid (GM1) functions as a…”
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