Search Results - "Waxman, Elisa A."

Mapping PTBP2 binding in human brain identifies SYNGAP1 as a target for therapeutic splice switching by Dawicki-McKenna, Jennine M., Felix, Alex J., Waxman, Elisa A., Cheng, Congsheng, Amado, Defne A., Ranum, Paul T., Bogush, Alexey, Dungan, Lea V., Maguire, Jean Ann, Gagne, Alyssa L., Heller, Elizabeth A., French, Deborah L., Davidson, Beverly L., Prosser, Benjamin L.

“…Alternative splicing of neuronal genes is controlled partly by the coordinated action of polypyrimidine tract binding proteins (PTBPs). While PTBP1 is…”
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Cas9 editing of ATXN1 in a spinocerebellar ataxia type 1 mice and human iPSC-derived neurons by Fagan, Kelly J., Chillon, Guillem, Carrell, Ellie M., Waxman, Elisa A., Davidson, Beverly L.

“…Spinocerebellar ataxia type 1 (SCA1) is an adult-onset neurodegenerative disease caused by an expansion of the CAG repeat region of the ATXN1 gene. Currently…”
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N-methyl-D-aspartate Receptor Subtypes: Multiple Roles in Excitotoxicity and Neurological Disease by Waxman, Elisa A., Lynch, David R.

“…N-methyl-D-aspartate (NMDA) receptors are the major mediator of excitotoxicity. Although physiological activation of the NMDA receptor is necessary for cell…”
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Characterization of cellular protective effects of ATP13A2/PARK9 expression and alterations resulting from pathogenic mutants by Covy, Jason P., Waxman, Elisa A., Giasson, Benoit I.

“…Mutations in ATP13A2, which encodes a lysosomal P‐type ATPase of unknown function, cause an autosomal recessive parkinsonian syndrome. With mammalian cells, we…”
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Generation of a human Tropomyosin 1 knockout iPSC line by Wilken, Madison B., Maguire, Jean Ann, Dungan, Lea V., Gagne, Alyssa, Osorio-Quintero, Catherine, Waxman, Elisa A, Chou, Stella T., Gadue, Paul, French, Deborah L., Thom, Christopher S.

“…The CHOPWT17_TPM1KOc28 iPSC line was generated to interrogate the functions of Tropomyosin 1 (TPM1) in primary human cell development. This line was…”
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Drug screening identifies tazarotene and bexarotene as therapeutic agents in multiple sulfatase deficiency by Schlotawa, Lars, Tyka, Karolina, Kettwig, Matthias, Ahrens‐Nicklas, Rebecca C, Baud, Matthias, Berulava, Tea, Brunetti‐Pierri, Nicola, Gagne, Alyssa, Herbst, Zackary M, Maguire, Jean A, Monfregola, Jlenia, Pena, Tonatiuh, Radhakrishnan, Karthikeyan, Schröder, Sophie, Waxman, Elisa A, Ballabio, Andrea, Dierks, Thomas, Fischer, André, French, Deborah L, Gelb, Michael H, Gärtner, Jutta

“…Multiple sulfatase deficiency (MSD, MIM #272200) results from pathogenic variants in the SUMF1 gene that impair proper function of the formylglycine‐generating…”
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N-Methyl-D-aspartate Receptor Subtype Mediated Bidirectional Control of p38 Mitogen-activated Protein Kinase by Waxman, Elisa A., Lynch, David R.

“…N-methyl-d-aspartate receptor (NMDAR) stimulation activates many downstream mechanisms involved in both cell survival and cell death. The manner in which the…”
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Induction of intracellular tau aggregation is promoted by α-synuclein seeds and provides novel insights into the hyperphosphorylation of tau by Waxman, Elisa A, Giasson, Benoit I

“…Intracytoplasmic proteinaceous inclusions, primarily composed of tau or α-synuclein (α-syn), are predominant pathological features of Alzheimer's disease (AD)…”
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Interactions of Postsynaptic Density-95 and the NMDA Receptor 2 Subunit Control Calpain-Mediated Cleavage of the NMDA Receptor by Dong, Yi Na, Waxman, Elisa A, Lynch, David R

“…The calcium-dependent protease calpain cleaves the NMDA receptor 2 (NR2) subunit of the NMDA receptor both in vitro and in vivo and thus potentially modulates…”
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Molecular mechanisms of α-synuclein neurodegeneration by Waxman, Elisa A., Giasson, Benoit I.

“…α-Synuclein is an abundant highly charged protein that is normally predominantly localized around synaptic vesicles in presynaptic terminals. Although the…”
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N-Methyl-d-aspartate Receptor-dependent Regulation of the Glutamate Transporter Excitatory Amino Acid Carrier 1 by Waxman, Elisa A., Baconguis, Isabelle, Lynch, David R., Robinson, Michael B.

“…The neuronal transporter excitatory amino acid carrier 1 (EAAC1) is enriched in perisynaptic regions, where it may regulate synaptic spillover of glutamate. In…”
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Specificity and Regulation of Casein Kinase-Mediated Phosphorylation of α-Synuclein by Waxman, Elisa A, Giasson, Benoit I

“…α-Synuclein (α-syn) is the major component of pathologic inclusions that characterize neurodegenerative disorders such as Parkinson disease, dementia with Lewy…”
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E46K Human α-Synuclein Transgenic Mice Develop Lewy-like and Tau Pathology Associated with Age-dependent, Detrimental Motor Impairment by Emmer, Kristel L., Waxman, Elisa A., Covy, Jason P., Giasson, Benoit I.

“…Synucleinopathies are a group of neurodegenerative disorders associated with the formation of aberrant amyloid inclusions composed of the normally soluble…”
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Characterization of kinases involved in the phosphorylation of aggregated α-synuclein by Waxman, Elisa A., Giasson, Benoit I.

“…α‐Synuclein (α‐syn) is the major component of pathological inclusions characteristic of several neurodegenerative disorders, such as Parkinson's disease. The…”
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A novel, high‐efficiency cellular model of fibrillar α‐synuclein inclusions and the examination of mutations that inhibit amyloid formation by Waxman, Elisa A., Giasson, Benoit I.

“…J. Neurochem. (2010) 113, 374–388. Intracytoplasmic alpha‐synuclein (α‐syn) amyloidogenic inclusions are a major pathological feature of Parkinson’s disease,…”
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A novel iPSC model reveals selective vulnerability of neurons in multiple sulfatase deficiency by Pham, Vi, Sertori Finoti, Livia, Cassidy, Margaret M., Maguire, Jean Ann, Gagne, Alyssa L., Waxman, Elisa A., French, Deborah L., King, Kaitlyn, Zhou, Zitao, Gelb, Michael H., Wongkittichote, Parith, Hong, Xinying, Schlotawa, Lars, Davidson, Beverly L., Ahrens-Nicklas, Rebecca C.

“…Multiple sulfatase deficiency (MSD) is an ultra-rare, inherited lysosomal storage disease caused by mutations in the gene sulfatase modifying factor 1 (SUMF1)…”
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Characterization of Hydrophobic Residue Requirements for α-Synuclein Fibrillization by Waxman, Elisa A, Mazzulli, Joseph R, Giasson, Benoit I

“…α-Synuclein is the major component of pathological inclusions characteristic of diseases like Parkinson’s disease, dementia with Lewy bodies, and…”
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Cross-site reproducibility of human cortical organoids reveals consistent cell type composition and architecture by Glass, Madison R., Waxman, Elisa A., Yamashita, Satoshi, Lafferty, Michael, Beltran, Alvaro A., Farah, Tala, Patel, Niyanta K., Singla, Rubal, Matoba, Nana, Ahmed, Sara, Srivastava, Mary, Drake, Emma, Davis, Liam T., Yeturi, Meghana, Sun, Kexin, Love, Michael I., Hashimoto-Torii, Kazue, French, Deborah L., Stein, Jason L.

“…While guided human cortical organoid (hCO) protocols reproducibly generate cortical cell types at one site, variability in hCO phenotypes across sites using a…”
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Characterization of antibodies that selectively detect α-synuclein in pathological inclusions by Waxman, Elisa A., Duda, John E., Giasson, Benoit I.

“…Sensitive detection of α-synuclein (α-syn) pathology is important in the diagnosis of disorders like Parkinson’s disease, dementia with Lewy bodies, and…”
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Rigor and reproducibility in human brain organoid research: Where we are and where we need to go by Sandoval, Soraya O., Cappuccio, Gerarda, Kruth, Karina, Osenberg, Sivan, Khalil, Saleh M., Méndez-Albelo, Natasha M., Padmanabhan, Krishnan, Wang, Daifeng, Niciu, Mark J., Bhattacharyya, Anita, Stein, Jason L., Sousa, André M.M., Waxman, Elisa A., Buttermore, Elizabeth D., Whye, Dosh, Sirois, Carissa L., Anderson, Stewart, Anita, Bhattacharyya, Buttermore, Elizabeth, Chang, Qiang, French, Deborah, Hashimoto-Torii, Kazue, Kornblum, Harley, Kroll, Kristin, Lachman, Herbert M., Maletic-Savatic, Mirjana, Niciu, Mark, Novitch, Bennett, Padmanabhan, Krishnan, Proschel, Chris, Sahin, Mustafa, Sousa, Andre, Stein, Jason, Wang, Daifeng, Waxman, Elisa, Whye, Dosh, Williams, Aislinn, Zhao, Xinyu, Williams, Aislinn, Maletic-Savatic, Mirjana, Zhao, Xinyu

“…Human brain organoid models have emerged as a promising tool for studying human brain development and function. These models preserve human genetics and…”
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