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- Description:
- The apolipoprotein E (APOE) E4 isoform is the strongest genetic risk factor for sporadic Alzheimer’s disease (AD). While APOE is predominantly expressed by astrocytes in the central nervous system, neuronal expression of APOE is of increasing interest in age-related cognitive impairment, neurological injury, and neurodegeneration. Here we show that endogenous...
- Keyword:
- APOE, Alzheimer, Stem Cells, and CRISPR
- Subject:
- Molecular biology, Medicine, and Neurosciences
- Creator:
- Wadhwani, Anil R
- Owner:
- Scholarly Digital Publishing
- Language:
- en
- Date Uploaded:
- 02/12/2020
- Date Created:
- 2019-01-01
- Resource Type:
- Dissertation
- Alternate Identifier:
- http://dissertations.umi.com/northwestern:14520 and etdadmin_upload_639542
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- Description:
- Frontotemporal Dementia (FTD) and Amyotrophic Lateral Sclerosis (ALS) are two devastating neurodegenerative diseases that affect 100,000s of people globally. They have a severe adverse impact on society, yet there are currently no early diagnostic tools or disease-modifying therapies available. Despite their clinical heterogeneity, evidence points to these diseases being on...
- Keyword:
- microRNA, Compositional Data Analysis, TDP-43 Proteinopathy, FUS Proteinopathy, RNA-Seq, and Mitochondria
- Subject:
- Molecular biology, Bioinformatics, and Neurosciences
- Creator:
- McGee, Warren A
- Owner:
- Scholarly Digital Publishing
- Language:
- en
- Date Uploaded:
- 02/12/2020
- Date Created:
- 2019-01-01
- Resource Type:
- Dissertation
- Alternate Identifier:
- http://dissertations.umi.com/northwestern:14675 and etdadmin_upload_663037
-
- Description:
- Contactin associated protein like 2 (CNTNAP2) has emerged as a prominent susceptibility gene implicated in multiple complex neurodevelopmental disorders, including autism spectrum disorders (ASD), intellectual disability (ID), and schizophrenia (SCZ). The presence of seizure comorbidity in many of these cases, as well as inhibitory neuron dysfunction in Cntnap2 knockout (KO)...
- Keyword:
- Epilepsy, Dendrites, Autism, CASK, CNTNAP2, and Interneurons
- Subject:
- Physiology, Molecular biology, and Neurosciences
- Creator:
- Gao, Ruoqi
- Owner:
- Scholarly Digital Publishing
- Language:
- en
- Date Uploaded:
- 02/12/2020
- Date Created:
- 2018-01-01
- Resource Type:
- Dissertation
- Alternate Identifier:
- http://dissertations.umi.com/northwestern:14243 and etdadmin_upload_595693
-
- Description:
- Background: Glioblastoma (GBM) tumors are the most malignant brain cancers and are characterized as Grade IV astrocytomas by the World Health Organization. GBM tumors can be classified into three molecular subtypes known as proneural, classical, and mesenchymal. In addition, GBM tumors also have a small population of cells known as...
- Keyword:
- LY6K, Methylation, Glioblastoma, ERK1/2, and CAV-1
- Subject:
- Molecular biology, Oncology, and Neurosciences
- Creator:
- Sastry, Namratha G
- Owner:
- Scholarly Digital Publishing
- Language:
- en
- Date Uploaded:
- 01/21/2021
- Date Created:
- 2020-01-01
- Resource Type:
- Dissertation
- Alternate Identifier:
- etdadmin_upload_733180 and http://dissertations.umi.com/northwestern:15049
-
- Description:
- Prions are self-perpetuating, alternative protein conformations associated with neurological diseases and normal cellular functions. Saccharomyces cerevisiae contains many endogenous prions – providing a powerful system to study prionization. Previously, the Li Lab demonstrated that Swi1, a component of the SWI/SNF chromatin-remodeling complex, can form the prion [SWI+]. A small region,...
- Keyword:
- [SWI+], yeast, protein aggregation, prions, Saccharomyces cerevisiae, and Swi1
- Subject:
- Molecular biology, Bioinformatics, and Neurosciences
- Creator:
- Goncharoff, Dustin Kenneth
- Owner:
- Scholarly Digital Publishing
- Language:
- en
- Date Uploaded:
- 06/28/2021
- Date Created:
- 2021-01-01
- Resource Type:
- Dissertation
- Alternate Identifier:
- etdadmin_upload_816388 and http://dissertations.umi.com/northwestern:15538
-
- Description:
- Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease characterized by motor neuron (MN) degeneration and resulting in progressive paralysis and death. ALS is genetically heterogeneous, disease pathophysiology is not completely understood, and there are no effective drug therapies. To develop broadly applicable therapeutics, we examine disease mechanisms in the...
- Keyword:
- ALS, C9orf72, iPSCs, nucleocytoplasmic transport, NEK1, and microtubules
- Subject:
- Molecular biology, Cellular biology, and Neurosciences
- Creator:
- Daley, Elizabeth
- Owner:
- Scholarly Digital Publishing
- Language:
- en
- Date Uploaded:
- 10/07/2021
- Date Created:
- 2021-01-01
- Resource Type:
- Dissertation
- Alternate Identifier:
- http://dissertations.umi.com/northwestern:15607 and etdadmin_upload_825395
-
- Description:
- Mitochondria-lysosome contacts are recently identified sites for mediating crosstalk between both organelles, but their role in normal and diseased human neurons remains unknown. We used super-resolution and live-cell microscopy in human iPSC-derived neurons to demonstrate that mitochondria-lysosome contacts can dynamically form in the soma, axons, and dendrites of human neurons,...
- Keyword:
- iPSC, Interorganelle contacts, GBA, Lysosome, Mitochondria, and Parkinson's disease
- Subject:
- Molecular biology, Cellular biology, and Neurosciences
- Creator:
- Kim, Soojin
- Owner:
- Scholarly Digital Publishing
- Language:
- en
- Date Uploaded:
- 10/07/2021
- Date Created:
- 2021-01-01
- Resource Type:
- Dissertation
- Alternate Identifier:
- etdadmin_upload_825288 and http://dissertations.umi.com/northwestern:15606
-
- Description:
- Protein homeostasis, or proteostasis, is essential for preserving all cellular functions and involves a balance of protein synthesis, folding, trafficking, and degradation. A collapse in proteostasis is a common feature of many neurodegenerative disorders that are characterized by the accumulation of insoluble protein aggregates in the brain. Parkinson’s disease (PD)...
- Keyword:
- induced pluripotent stem cell models, ER stress, protein aggregation, protein folding, and lysosomal dysfunction
- Subject:
- Molecular biology and Neurosciences
- Creator:
- Stojkovska, Iva
- Owner:
- Scholarly Digital Publishing
- Language:
- en
- Date Uploaded:
- 02/02/2022
- Date Created:
- 2021-01-01
- Resource Type:
- Dissertation
- Alternate Identifier:
- etdadmin_upload_850723 and http://dissertations.umi.com/northwestern:15793
-
- Description:
- Glioblastoma multiforme (GBM) is the most prevalent primary central nervous system tumor, characterized by resistance to therapeutic intervention, inevitable recurrence, and ultimately patient death. The dismal prognosis is due in part to underlying molecular factors that promote an intratumoral cellular state heterogeneity and protect tumor cells from cell death pathways....
- Keyword:
- Ferroptosis, Glioblastoma, Cancer, Stemness, Metabolism, and IDH1
- Subject:
- Molecular biology, Medicine, and Neurosciences
- Creator:
- Murnan, Kevin Michael
- Owner:
- Scholarly Digital Publishing
- Language:
- en
- Date Uploaded:
- 06/22/2022
- Date Created:
- 2022-01-01
- Resource Type:
- Dissertation
- Alternate Identifier:
- http://dissertations.umi.com/northwestern:15885 and etdadmin_upload_865864
-
- Description:
- Genetic studies have found variants in the protein-degrading autophagy-lysosomal pathway (ALP) to be among the most common risk factors for developing Parkinson’s disease (PD). Macroautophagy (MA) is the arm of this pathway which delivers cytosolic components to lysosomes for degradation and is essential for neuronal health. The defining pathological protein...
- Keyword:
- ykt6, synuclein, Parkinson disease, SNARE, autophagy, and farnesyltransferase inhibitor
- Subject:
- Molecular biology, Biochemistry, and Neurosciences
- Creator:
- Pitcairn, Caleb
- Owner:
- Scholarly Digital Publishing
- Language:
- en
- Date Uploaded:
- 05/31/2023
- Date Created:
- 2023-01-01
- Resource Type:
- Dissertation
- Alternate Identifier:
- http://dissertations.umi.com/northwestern:16447 and etdadmin_upload_970290
-
- Description:
- SCN2A encodes the NaV1.2 voltage-gated sodium channel, which is thought to contribute to the development of the central nervous system. Pathogenic variants in SCN2A have been associated with neurodevelopmental disorders (NDD), including developmental and epileptic encephalopathies (DEE), intellectual disability (ID), and autism spectrum disorder (ASD). These disorders represent a significant...
- Keyword:
- neurodevelopmental disorder, mouse model, SCN2A, ion selectivity, sex differences, and strain dependence
- Subject:
- Molecular biology, Genetics, and Neurosciences
- Creator:
- Echevarria-Cooper, Dennis Michael
- Owner:
- Scholarly Digital Publishing
- Language:
- en
- Date Uploaded:
- 05/31/2023
- Date Created:
- 2023-01-01
- Resource Type:
- Dissertation
- Alternate Identifier:
- etdadmin_upload_966256 and http://dissertations.umi.com/northwestern:16435
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- Description:
- Autism spectrum disorder (ASD) and intellectual disability (ID) are two of the most highly prevalent neurodevelopmental disorders (NDDs), each affecting roughly 2% of the population. Despite the need for therapies, few exist due to a myriad of challenges, such as the complex underlying genetic etiology and historic inaccessibility of neural...
- Keyword:
- PACS1 syndrome, Induced pluripotent stem cells, Single-cell RNA sequencing, Intellectual disability, Cerebral organoids, and Autism spectrum disorder
- Subject:
- Molecular biology and Neurosciences
- Creator:
- Rylaarsdam, Lauren Elizabeth
- Owner:
- Scholarly Digital Publishing
- Language:
- en
- Date Uploaded:
- 05/31/2023
- Date Created:
- 2023-01-01
- Resource Type:
- Dissertation
- Alternate Identifier:
- etdadmin_upload_984633 and http://dissertations.umi.com/northwestern:16538