Search Results - "Cochran, J Nicholas"

Amyloid-β signals through tau to drive ectopic neuronal cell cycle re-entry in Alzheimer's disease by Seward, Matthew E, Swanson, Eric, Norambuena, Andrés, Reimann, Anja, Cochran, J Nicholas, Li, Rong, Roberson, Erik D, Bloom, George S

“…Normally post-mitotic neurons that aberrantly re-enter the cell cycle without dividing account for a substantial fraction of the neurons that die in…”
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Reduced PIN1 expression in neocortical and limbic brain regions in female Alzheimer’s patients correlates with cognitive and neuropathological phenotypes by de Ávila, Camila, Suazo, Crystal, Nolz, Jennifer, Nicholas Cochran, J., Wang, Qi, Velazquez, Ramon, Dammer, Eric, Readhead, Benjamin, Mastroeni, Diego

“…Women have a higher incidence of Alzheimer’s disease (AD), even after adjusting for increased longevity. Thus, there is an urgent need to identify genes that…”
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The dendritic hypothesis for Alzheimer's disease pathophysiology by Cochran, J. Nicholas, Hall, Alicia M, Roberson, Erik D

“…Highlights • Dendritic neuropathology is ubiquitous in Alzheimer's Disease (AD). • Aβ causes dendritic neuropathology in AD. • Dendritic mislocalization of Tau…”
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Genomic diagnosis for children with intellectual disability and/or developmental delay by Bowling, Kevin M, Thompson, Michelle L, Amaral, Michelle D, Finnila, Candice R, Hiatt, Susan M, Engel, Krysta L, Cochran, J Nicholas, Brothers, Kyle B, East, Kelly M, Gray, David E, Kelley, Whitley V, Lamb, Neil E, Lose, Edward J, Rich, Carla A, Simmons, Shirley, Whittle, Jana S, Weaver, Benjamin T, Nesmith, Amy S, Myers, Richard M, Barsh, Gregory S, Bebin, E Martina, Cooper, Gregory M

“…Developmental disabilities have diverse genetic causes that must be identified to facilitate precise diagnoses. We describe genomic data from 371 affected…”
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A peptide inhibitor of Tau-SH3 interactions ameliorates amyloid-β toxicity by Rush, Travis, Roth, Jonathan R., Thompson, Samantha J., Aldaher, Adam R., Cochran, J. Nicholas, Roberson, Erik D.

“…The microtubule-associated protein Tau is strongly implicated in Alzheimer's disease (AD) and aggregates into neurofibrillary tangles in AD. Genetic reduction…”
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The Multi-Partner Consortium to Expand Dementia Research in Latin America (ReDLat): Driving Multicentric Research and Implementation Science by Ibanez, Agustin, Yokoyama, Jennifer S, Possin, Katherine L, Matallana, Diana, Lopera, Francisco, Nitrini, Ricardo, Takada, Leonel T, Custodio, Nilton, Sosa Ortiz, Ana Luisa, Avila-Funes, José Alberto, Behrens, Maria Isabel, Slachevsky, Andrea, Myers, Richard M, Cochran, J Nicholas, Brusco, Luis Ignacio, Bruno, Martin A, Brucki, Sonia M D, Pina-Escudero, Stefanie Danielle, Okada de Oliveira, Maira, Donnelly Kehoe, Patricio, Garcia, Adolfo M, Cardona, Juan Felipe, Santamaria-Garcia, Hernando, Moguilner, Sebastian, Duran-Aniotz, Claudia, Tagliazucchi, Enzo, Maito, Marcelo, Longoria Ibarrola, Erika Mariana, Pintado-Caipa, Maritza, Godoy, Maria Eugenia, Bakman, Vera, Javandel, Shireen, Kosik, Kenneth S, Valcour, Victor, Miller, Bruce L

“…Dementia is becoming increasingly prevalent in Latin America, contrasting with stable or declining rates in North America and Europe. This scenario places…”
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Aberrant regulation of a poison exon caused by a non-coding variant in a mouse model of Scn1a-associated epileptic encephalopathy by Voskobiynyk, Yuliya, Battu, Gopal, Felker, Stephanie A, Cochran, J Nicholas, Newton, Megan P, Lambert, Laura J, Kesterson, Robert A, Myers, Richard M, Cooper, Gregory M, Roberson, Erik D, Barsh, Gregory S

“…Dravet syndrome (DS) is a developmental and epileptic encephalopathy that results from mutations in the Nav1.1 sodium channel encoded by SCN1A. Most known…”
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Alzheimer's disease risk gene BIN1 induces Tau-dependent network hyperexcitability by Voskobiynyk, Yuliya, Roth, Jonathan R, Cochran, J Nicholas, Rush, Travis, Carullo, Nancy Vn, Mesina, Jacob S, Waqas, Mohammad, Vollmer, Rachael M, Day, Jeremy J, McMahon, Lori L, Roberson, Erik D

“…Genome-wide association studies identified the locus as a leading modulator of genetic risk in Alzheimer's disease (AD). One limitation in understanding 's…”
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PEA15 loss of function and defective cerebral development in the domestic cat by Graff, Emily C, Cochran, J Nicholas, Kaelin, Christopher B, Day, Kenneth, Gray-Edwards, Heather L, Watanabe, Rie, Koehler, Jey W, Falgoust, Rebecca A, Prokop, Jeremy W, Myers, Richard M, Cox, Nancy R, Barsh, Gregory S, Martin, Douglas R

“…Cerebral cortical size and organization are critical features of neurodevelopment and human evolution, for which genetic investigation in model organisms can…”
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A neurodegenerative disease landscape of rare mutations in Colombia due to founder effects by Acosta-Uribe, Juliana, Aguillón, David, Cochran, J Nicholas, Giraldo, Margarita, Madrigal, Lucía, Killingsworth, Bradley W, Singhal, Rijul, Labib, Sarah, Alzate, Diana, Velilla, Lina, Moreno, Sonia, García, Gloria P, Saldarriaga, Amanda, Piedrahita, Francisco, Hincapié, Liliana, López, Hugo E, Perumal, Nithesh, Morelo, Leonilde, Vallejo, Dionis, Solano, Juan Marcos, Reiman, Eric M, Surace, Ezequiel I, Itzcovich, Tatiana, Allegri, Ricardo, Sánchez-Valle, Raquel, Villegas-Lanau, Andrés, White, 3rd, Charles L, Matallana, Diana, Myers, Richard M, Browning, Sharon R, Lopera, Francisco, Kosik, Kenneth S

“…The Colombian population, as well as those in other Latin American regions, arose from a recent tri-continental admixture among Native Americans, Spanish…”
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Therapeutic Response in Feline Sandhoff Disease Despite Immunity to Intracranial Gene Therapy by Bradbury, Allison M, Cochran, J Nicholas, McCurdy, Victoria J, Johnson, Aime K, Brunson, Brandon L, Gray-Edwards, Heather, Leroy, Stanley G, Hwang, Misako, Randle, Ashley N, Jackson, Laura S, Morrison, Nancy E, Baek, Rena C, Seyfried, Thomas N, Cheng, Seng H, Cox, Nancy R, Baker, Henry J, Cachón-González, M Begona, Cox, Timothy M, Sena-Esteves, Miguel, Martin, Douglas R

“…Salutary responses to adeno-associated viral (AAV) gene therapy have been reported in the mouse model of Sandhoff disease (SD), a neurodegenerative lysosomal…”
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Early‐onset Alzheimer's disease explained by polygenic risk of late‐onset disease? by Mantyh, William G., Cochran, J. Nicholas, Taylor, Jared W., Broce, Iris J., Geier, Ethan G., Bonham, Luke W., Anderson, Ashlyn G., Sirkis, Daniel W., Joie, Renaud La, Iaccarino, Leonardo, Chaudhary, Kiran, Edwards, Lauren, Strom, Amelia, Grant, Harli, Allen, Isabel E., Miller, Zachary A., Gorno‐Tempini, Marilu L., Kramer, Joel H., Miller, Bruce L., Desikan, Rahul S., Rabinovici, Gil D., Yokoyama, Jennifer S.

“…Early‐onset Alzheimer's disease (AD) is highly heritable, yet only 10% of cases are associated with known pathogenic mutations. For early‐onset AD patients…”
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APOE3 Christchurch Heterozygosity and Autosomal Dominant Alzheimer’s Disease by Cochran, J. Nicholas, Greicius, Michael D., Goate, Alison M., Lopera, Francisco, Arboleda-Velasquez, Joseph F.

“…To the Editor: The report by Quiroz et al. (June 20 issue) 1 on the Colombian PSEN1 E280A pedigree suggests a protective effect of apolipoprotein E3…”
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The Alzheimer's disease risk factor CD2AP maintains blood-brain barrier integrity by Cochran, J Nicholas, Rush, Travis, Buckingham, Susan C, Roberson, Erik D

“…CD2-associated protein (CD2AP) is a leading genetic risk factor for Alzheimer's disease, but little is known about the function of CD2AP in the brain. We…”
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Response to Holstege et al by Cochran, J Nicholas, Myers, Richard M, Yokoyama, Jennifer S

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Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies by Carvill, Gemma L., Engel, Krysta L., Ramamurthy, Aishwarya, Cochran, J. Nicholas, Roovers, Jolien, Stamberger, Hannah, Lim, Nicholas, Schneider, Amy L., Hollingsworth, Georgie, Holder, Dylan H., Regan, Brigid M., Lawlor, James, Lagae, Lieven, Ceulemans, Berten, Bebin, E. Martina, Nguyen, John, Striano, Pasquale, Zara, Federico, Helbig, Ingo, Møller, Rikke S., von Spiczak, Sarah, Muhle, Hiltrud, Caglayan, Hande, Sterbova, Katalin, Craiu, Dana, Hoffman, Dorota, Lehesjoki, Anna-Elina, Selmer, Kaja, Depienne, Christel, Lemke, Johannes, Marini, Carla, Guerrini, Renzo, Neubauer, Bernd, Talvik, Tiina, Leguern, Eric, de Jonghe, Peter, Weckhuysen, Sarah, Barsh, Gregory S., Weckhuysen, Sarah, Meisler, Miriam, Berkovic, Samuel F., De Jonghe, Peter, Scheffer, Ingrid E., Myers, Richard M., Cooper, Gregory M., Mefford, Heather C.

“…Developmental and epileptic encephalopathies (DEEs) are a group of severe epilepsies characterized by refractory seizures and developmental impairment…”
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Non-coding and Loss-of-Function Coding Variants in TET2 are Associated with Multiple Neurodegenerative Diseases by Cochran, J. Nicholas, Geier, Ethan G., Bonham, Luke W., Newberry, J. Scott, Amaral, Michelle D., Thompson, Michelle L., Lasseigne, Brittany N., Karydas, Anna M., Roberson, Erik D., Cooper, Gregory M., Rabinovici, Gil D., Miller, Bruce L., Myers, Richard M., Yokoyama, Jennifer S.

“…We conducted genome sequencing to search for rare variation contributing to early-onset Alzheimer’s disease (EOAD) and frontotemporal dementia (FTD). Discovery…”
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Neuronal MAPT expression is mediated by long-range interactions with cis-regulatory elements by Rogers, Brianne B., Anderson, Ashlyn G., Lauzon, Shelby N., Davis, M. Natalie, Hauser, Rebecca M., Roberts, Sydney C., Rodriguez-Nunez, Ivan, Trausch-Lowther, Katie, Barinaga, Erin A., Hall, Paige I., Knuesel, Matthew T., Taylor, Jared W., Mackiewicz, Mark, Roberts, Brian S., Cooper, Sara J., Rizzardi, Lindsay F., Myers, Richard M., Cochran, J. Nicholas

“…Tauopathies are a group of neurodegenerative diseases defined by abnormal aggregates of tau, a microtubule-associated protein encoded by MAPT. MAPT expression…”
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Development of small-molecule Tau-SH3 interaction inhibitors that prevent amyloid-β toxicity and network hyperexcitability by Roth, Jonathan R., Rush, Travis, Thompson, Samantha J., Aldaher, Adam R., Dunn, Trae B., Mesina, Jacob S., Cochran, J. Nicholas, Boyle, Nicholas R., Dean, Hunter B., Yang, Zhengrong, Pathak, Vibha, Ruiz, Pedro, Wu, Mousheng, Day, Jeremy J., Bostwick, J. Robert, Suto, Mark J., Augelli-Szafran, Corinne E., Roberson, Erik D.

“…Alzheimer's disease (AD) is the leading cause of dementia and lacks highly effective treatments. Tau-based therapies hold promise. Tau reduction prevents…”
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Life‐Limiting Peripheral Organ Dysfunction in Feline Sandhoff Disease Emerges after Effective CNS Gene Therapy by Johnson, Aime K., McCurdy, Victoria J., Gray‐Edwards, Heather L., Maguire, Anne S., Cochran, J. Nicholas, Gross, Amanda L., Skinner, Haleigh E., Randle, Ashley N., Shirley, Jamie L., Brunson, Brandon L., Bradbury, Allison M., Leroy, Stanley G., Hwang, Misako, Rockwell, Hannah E., Cox, Nancy R., Baker, Henry J., Seyfried, Thomas N., Sena‐Esteves, Miguel, Martin, Douglas R.

“…Objective GM2 gangliosidosis is usually fatal by 5 years of age in its 2 major subtypes, Tay‐Sachs and Sandhoff disease. First reported in 1881, GM2…”
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