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Dissertations / Theses on the topic 'IPSC-derived neurons'

Author: Grafiati

Published: 14 March 2023

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1

Zambon, Federico. "Studying α-Synuclein pathology using iPSC-derived dopaminergic neurons". Thesis, University of Oxford, 2017. https://ora.ox.ac.uk/objects/uuid:2856dcf3-0f38-4a37-9242-8c685d1c2c3a.

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Parkinson's disease (PD) is characterised by the loss of dopaminergic neurons in the Substantia Nigra pars compacta in the midbrain and the presence of intracellular aggregates, known as Lewy bodies (LBs), in the surviving neurons. The aetiology of PD is unknown but a causative role for α-Synuclein (SNCA) has been proposed. Although the function of αSyn is not well understood, a number of pathological mechanisms associated with αSyn toxicity have been proposed. In this study, nine induced pluripotent stem cells (iPSCs) lines from healthy individuals and PD patients carrying t

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2

Booth, Heather D. E. "Modelling and analysis of LRRK2 mutations in iPSC-derived dopaminergic neurons and astrocytes." Thesis, University of Oxford, 2017. https://ora.ox.ac.uk/objects/uuid:d85d164e-e9d4-4911-8aa0-831d4519a5a2.

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Parkinson's disease (PD) is a common neurodegenerative disorder, characterised by preferential loss of ventral midbrain dopaminergic (vmDA) neurons in the substantia nigra pars compacta (SNc). The majority of PD cases have unknown aetiology; however, between 5-10% arise due to known genetic mutations, the most common of which are found in the LRRK2 gene. LRRK2 is expressed in neurons and glia in the human brain; therefore, cell-autonomous and/or non-cell autonomous effects may participate in LRRK2-mutation-mediated degeneration of vmDA neurons. This study set out to understand the effects of L

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3

Samata, Bumpei. "Purification of functional human ES and iPSC-derived midbrain dopaminergic progenitors using LRTM1." 京都大学 (Kyoto University), 2017. http://hdl.handle.net/2433/225509.

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4

Landucci, Elisa. "Modeling Rett syndrome with iPSCs-derived neurons." Doctoral thesis, Università di Siena, 2018. http://hdl.handle.net/11365/1051069.

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Rett syndrome is a severe neurodevelopmental disorder. The condition affects approximately one in every 10.000 females and is only rarely seen in males. Causative mutations in the transcriptional regulator MeCP2 have been identified in more than 95% of classic Rett patients; mutations in CDKL5 are responsible for the early onset seizures Rett variant and mutations in FOXG1 gene lead to the congenital Rett variant. To shed light on molecular mechanisms underlying Rett syndrome onset and progression in disease-relevant cells, we took advantage of the breakthrough genetic reprogramming technology

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5

Srikanth, Priya. "Schizophrenia-Relevant DISC1 Interruption Alters Wnt Signaling and Cell Fate in Human iPSC-Derived Neurons." Thesis, Harvard University, 2015. http://nrs.harvard.edu/urn-3:HUL.InstRepos:23845068.

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The advent of human induced pluripotent stem cell (iPSC) technology has allowed for unprecedented investigation into the pathophysiology of human neurological and psychiatric diseases. Use of human iPSC-derived neural cells to study disease is complicated by the genetic heterogeneity of cell lines and diversity of differentiation protocols. Here, I address issues surrounding neuropsychiatric disease modeling with human iPSCs. Dozens of published protocols exist to differentiate iPSCs into forebrain neuronal cultures. Among the factors that distinguish these methods are: use of small molecules

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6

Grunwald, Lena-Marie [Verfasser], and Hans-Georg [Akademischer Betreuer] Rammensee. "iPSC-derived cortical neurons from patients with schizophrenia exhibit changes in early neuronal development / Lena-Marie Grunwald ; Betreuer: Hans-Georg Rammensee." Tübingen : Universitätsbibliothek Tübingen, 2019. http://d-nb.info/120091614X/34.

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7

Klaus, Johannes [Verfasser], and Magdalena [Akademischer Betreuer] Götz. "Modeling neuronal heterotopias using iPSC derived neural stem cells, neurons and cerebral organoids derived from patients with mutations in FAT4 and DCHS1 / Johannes Klaus ; Betreuer: Magdalena Götz." München : Universitätsbibliothek der Ludwig-Maximilians-Universität, 2017. http://d-nb.info/1148275789/34.

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8

Mosaku, Olukunbi Eniola. "The use of the CRISPR-Cas9 system and iPSC-derived neurons with a SNCA mutation to model neurodegeneration." Thesis, University College London (University of London), 2018. http://discovery.ucl.ac.uk/10062570/.

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Parkinson's disease (PD) is characterised by the selective loss of dopaminergic neurons of the substantia nigra pars compacta. Patients suffer from a progressive motor disorder, defined by the presence of rigidity, resting tremor and bradykinesia. Current treatment options, relieve symptoms for a limited period, but are not curative, as the underlying molecular causes of neurodegeneration are unknown. Several causative PD mutations have been identified and could provide insight into the defective molecular pathways in PD. Multiplication or missense mutation of the SNCA gene leads to autosomal

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9

MUTTI, VERONICA. "IPSC-derived neurons and astrocytes: a novel patient-specific model to study the pre-degenerative molecular alteration in Parkinson's Disease." Doctoral thesis, Università degli studi di Brescia, 2021. http://hdl.handle.net/11379/544657.

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IPSC-derived neurons and astrocytes: a novel patient-specific model to study the pre-degenerative molecular alteration in Parkinson's Disease<br>IPSC-derived neurons and astrocytes: a novel patient-specific model to study the pre-degenerative molecular alteration in Parkinson's Disease

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10

Beevers, Joel Edward. "Investigating the function of microtubule-associated protein tau (MAPT) and its genetic association with Parkinson's using human iPSC-derived dopamine neurons." Thesis, University of Oxford, 2016. https://ora.ox.ac.uk/objects/uuid:7a94919a-73a1-4a9f-b04d-cdf5b9c64be7.

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Parkinson's disease (PD) primarily manifests as loss of motor control through the degeneration of nigrostriatal dopaminergic neurons. The microtubule-associated protein tau (MAPT) locus is highly genetically associated with PD, wherein the H1 haplotype confers disease risk and the H2 haplotype is protective. As this haplotype variation does not alter the amino acid sequence, disease risk may be conferred by altered gene expression, either of total MAPT or of specific isoforms, of which there are six in adult human brain. To investigate haplotype-specific control of MAPT expression in the neuro

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11

Forero, Echeverry Andrea [Verfasser], Klaus-Peter [Gutachter] Lesch, Markus [Gutachter] Sauer, and Robert [Gutachter] Blum. "Impact of Cadherin-13 deficiency on the brain serotonin system using mouse models and human iPSC-derived neurons / Andrea Forero Echeverry ; Gutachter: Klaus-Peter Lesch, Markus Sauer, Robert Blum." Würzburg : Universität Würzburg, 2020. http://d-nb.info/1221963287/34.

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12

Komatsu, Kenichi. "Overexpressed wild-type superoxide dismutase 1 exhibits amyotrophic lateral sclerosis-related misfolded conformation in induced pluripotent stem cell-derived spinal motor neurons." Kyoto University, 2018. http://hdl.handle.net/2433/232077.

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13

Santivanez, Perez Jessica Andrea. "Effect of Parkinson's disease-related alpha-synuclein abnormalities on the maturation of distinct iPSC-derived neuronal populations." Thesis, University of Cambridge, 2017. https://www.repository.cam.ac.uk/handle/1810/267708.

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Parkinson’s disease (PD) is the second most common age-related neurodegenerative condition. It is neuropathologically characterised by the presence of Lewy pathology and the degeneration of the midbrain dopaminergic neurons from the substantia nigra pars compacta. Lewy pathology mainly consists of filamentous aggregated alpha-synuclein and familial forms of PD can be caused by genetic alternations in the SNCA gene encoding alpha-synuclein. Alpha-synuclein is primarily localised to neuronal presynaptic terminals and has been implicated in the maintenance of synaptic function. Studies have propo

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14

Tanriöver, Gaye [Verfasser], and Katja [Akademischer Betreuer] Nieweg. "Effects of amyloid-beta on homeostatic network plasticity in human iPSC-derived neuronal networks / Gaye Tanriöver ; Betreuer: Katja Nieweg." Marburg : Philipps-Universität Marburg, 2018. http://d-nb.info/1164156098/34.

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15

VOLPE, CLARA. "EPIGENETIC MARKS AND PATHOLOGICAL FEATURES ASSOCIATED TO MUTANT C9ORF72 GENE IN AMYOTROPHIC LATERAL SCLEROSIS: AN IN VITRO STUDY IN PATIENT-DERIVED INDUCED PLURIPOTENT STEM CELLS AND MOTOR NEURONS." Doctoral thesis, Università degli Studi di Milano, 2020. http://hdl.handle.net/2434/704314.

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The expansion of the hexanucleotide repeat sequence GGGGCC (>30 repeats) in the first intron of C9ORF72 gene is the main genetic cause of two neurodegenerative diseases: amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD). The 5’ promoter of C9ORF72 gene has been found hypermethylated in 30% of C9ORF72 positive (C9+) ALS/FTLD patients and never in unexpanded patients and healthy controls. Promoter methylation seems to have a neuroprotective role from RNA toxicity and RAN translated dipeptide repeats (DPRs). The aim of this study has been to characterize C9+ ALS

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16

Ribeiro, Fernandes Hugo José. "Elucidating the role of GBA in the pathology of Parkinson's disease using patient derived dopaminergic neurons differentiated from induced pluripotent stem cells." Thesis, University of Oxford, 2014. http://ora.ox.ac.uk/objects/uuid:7027574c-dda4-4752-9010-4c573bd0b2aa.

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Heterozygous mutations in the glucocerebrosidase (GBA) gene represent the most common risk factor for Parkinson’s disease (PD), a disease in which midbrain dopaminergic neurons are preferentially vulnerable. However, the mechanisms underlying this association are still unknown, mostly due to the lack of an appropriate model of study. In this thesis, we aimed at elucidating the role of heterozygous GBA mutations in PD using a specific human induced pluripotent stem cell (hiPSC)-based model of disease. First we developed a protocol for the efficient differentiation of hiPSCs into dopaminergic cu

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17

Torrent, Juan Roger. "Using pacient-specific IPSC derived dopaminergic to investigate Parkinson's disease: a new prospective in stem cell research and application = Utilització de neurones dopaminèrgiques específiques de pacients derivades de cèl·lules pluripotents induïdes (IPSC) en la investigació de la malaltia de Parkinson: una nova perspectiva en la investigació amb cèl·lules mare i les seves aplicacions." Doctoral thesis, Universitat de Barcelona, 2016. http://hdl.handle.net/10803/398131.

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Parkinson’s disease (PD) is an incurable neurodegenerative disorder, mainly characterized by a progressive loss of midbrain dopaminergic (DA) neurons, located in the substantia nigra pars compacta (SNpc), and frequently accompanied by the formation of insoluble cytosolic protein aggregates in the remaining surviving neurons, known as Lewy bodies. The progressive denervation of DA terminals that project to the basal ganglia striatum causes a lack of DA uptaking, and consequently a progressive manifestation of debilitating motor deficits, that leads to premature invalidity and death. To date,

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18

Chang, Cheng-Ting, and 張証婷. "Optogenetic Modulation of iPSC-derived Motor Neurons with Adeno-associated Virus Transfection of Optogene." Thesis, 2018. http://ndltd.ncl.edu.tw/handle/m8wqx3.

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19

Forero, Echeverry Andrea Marcela. "Impact of Cadherin-13 deficiency on the brain serotonin system using mouse models and human iPSC-derived neurons." Doctoral thesis, 2020. https://doi.org/10.25972/OPUS-21659.

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Serotonin (5-hydroxytryptamine, 5-HT) is a neurotransmitter involved in early developmental processes such as cell proliferation, migration, and differentiation. Recent research in humans showed that the brain 5-HT system and CDH13 are interlinked in the genetics of neurodevelopmental disorders including attention- deficit/hyperactivity disorder and autism spectrum disorder (Lesch et al., 2008; Neale et al., 2008; Neale, Medland, Ripke, Anney, et al., 2010; Neale, Medland, Ripke, Asherson, et al., 2010; Sanders et al., 2011; Sanders et al., 2015; Zhou et al., 2008). This study introduces Cadhe

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20

Dias, Marta Isabel Silva. "Caffeine Effects on the Gene Expression Profile of iPSC-derived Neuronal Cells." Master's thesis, 2017. http://hdl.handle.net/10362/27846.

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Caffeine is widely and massively consumed on daily basis in the form of coffee, tea or energy drinks. This very popular, psychoactive drug is sought after due to its ability to increase energy and alertness, enhance physical and cognitive performance as well as to improve our ability of focusing. Previous studies have investigated the ability of caffeine to inhibit the activation of adenosine receptors in low doses, amongst other pharmacological effects as well as its potential in several neurodegenerative disease-modeling studies. However, not much is known about the effects that caffeine exe

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