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Start Over Author "Cooper-Knock, Johnathan" Journal cell reports
5 results on '"Cooper-Knock, Johnathan"'

1. Rare variant burden analysis within enhancers identifies CAV1 as an ALS risk gene

Author

Cooper-Knock, Johnathan, primary, Zhang, Sai, additional, Kenna, Kevin P., additional, Moll, Tobias, additional, Franklin, John P., additional, Allen, Samantha, additional, Nezhad, Helia Ghahremani, additional, Iacoangeli, Alfredo, additional, Yacovzada, Nancy Y., additional, Eitan, Chen, additional, Hornstein, Eran, additional, Elhaik, Eran, additional, Celadova, Petra, additional, Bose, Daniel, additional, Farhan, Sali, additional, Fishilevich, Simon, additional, Lancet, Doron, additional, Morrison, Karen E., additional, Shaw, Christopher E., additional, Al-Chalabi, Ammar, additional, Veldink, Jan H., additional, Kirby, Janine, additional, Snyder, Michael P., additional, and Shaw, Pamela J., additional

Published
2021
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2. Rare Variant Burden Analysis within Enhancers Identifies CAV1 as an ALS Risk Gene

Author

Cooper-Knock, Johnathan, primary, Zhang, Sai, additional, Kenna, Kevin P., additional, Moll, Tobias, additional, Franklin, John P., additional, Allen, Samantha, additional, Nezhad, Helia Ghahremani, additional, Iacoangeli, Alfredo, additional, Yacovzada, Nancy Y., additional, Eitan, Chen, additional, Hornstein, Eran, additional, Elhaik, Eran, additional, Celadova, Petra, additional, Bose, Daniel, additional, Farhan, Sali, additional, Fishilevich, Simon, additional, Lancet, Doron, additional, Morrison, Karen E., additional, Shaw, Christopher E., additional, Al-Chalabi, Ammar, additional, Veldink, Jan H., additional, Kirby, Janine, additional, Snyder, Michael P., additional, Shaw, Pamela J., additional, Blair, Ian, additional, Wray, Naomi, additional, Kiernan, Matthew, additional, Neto, Miguel Mitne, additional, Chio, Adriano, additional, Cauchi, Ruben, additional, Robberecht, Wim, additional, van Damme, Philip, additional, Corcia, Phillippe, additional, Couratier, Phillipe, additional, Hardiman, Orla, additional, McLaughlin, Russel, additional, Gotkine, Marc, additional, Drory, Vivan, additional, Ticozzi, Nicola, additional, Silani, Vincenzo, additional, Veldink, Jan, additional, van den Berg, Leonard, additional, de Carvalho, Mamede, additional, Pardina, Jesus Mora, additional, Povedano, Monica, additional, Andersen, Peter, additional, Wber, Markus, additional, Başak, Nazli, additional, Shaw, Christopher, additional, Shaw, Pamela, additional, Morrison, Karen, additional, Landers, John, additional, and Glass, Jonathan, additional

Published
2020
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3. Mutations in the Glycosyltransferase Domain of GLT8D1 Are Associated with Familial Amyotrophic Lateral Sclerosis

Author

Cooper-Knock, Johnathan, primary, Moll, Tobias, additional, Ramesh, Tennore, additional, Castelli, Lydia, additional, Beer, Alexander, additional, Robins, Henry, additional, Fox, Ian, additional, Niedermoser, Isabell, additional, Van Damme, Philip, additional, Moisse, Matthieu, additional, Robberecht, Wim, additional, Hardiman, Orla, additional, Panades, Monica P., additional, Assialioui, Abdelilah, additional, Mora, Jesus S., additional, Basak, A. Nazli, additional, Morrison, Karen E., additional, Shaw, Christopher E., additional, Al-Chalabi, Ammar, additional, Landers, John E., additional, Wyles, Matthew, additional, Heath, Paul R., additional, Higginbottom, Adrian, additional, Walsh, Theresa, additional, Kazoka, Mbombe, additional, McDermott, Christopher J., additional, Hautbergue, Guillaume M., additional, Kirby, Janine, additional, and Shaw, Pamela J., additional

Published
2019
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4. Rare variant burden analysis within enhancers identifies CAV1as an ALS risk gene

Author

Cooper-Knock, Johnathan, Zhang, Sai, Kenna, Kevin P., Moll, Tobias, Franklin, John P., Allen, Samantha, Nezhad, Helia Ghahremani, Iacoangeli, Alfredo, Yacovzada, Nancy Y., Eitan, Chen, Hornstein, Eran, Elhaik, Eran, Celadova, Petra, Bose, Daniel, Farhan, Sali, Fishilevich, Simon, Lancet, Doron, Morrison, Karen E., Shaw, Christopher E., Al-Chalabi, Ammar, Veldink, Jan H., Kirby, Janine, Snyder, Michael P., and Shaw, Pamela J.

Published
2021
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5. Rare Variant Burden Analysis within Enhancers Identifies CAV1as an ALS Risk Gene

Author

Cooper-Knock, Johnathan, Zhang, Sai, Kenna, Kevin P., Moll, Tobias, Franklin, John P., Allen, Samantha, Nezhad, Helia Ghahremani, Iacoangeli, Alfredo, Yacovzada, Nancy Y., Eitan, Chen, Hornstein, Eran, Elhaik, Eran, Celadova, Petra, Bose, Daniel, Farhan, Sali, Fishilevich, Simon, Lancet, Doron, Morrison, Karen E., Shaw, Christopher E., Al-Chalabi, Ammar, Blair, Ian, Wray, Naomi, Kiernan, Matthew, Neto, Miguel Mitne, Chio, Adriano, Cauchi, Ruben, Robberecht, Wim, van Damme, Philip, Corcia, Phillippe, Couratier, Phillipe, Hardiman, Orla, McLaughlin, Russel, Gotkine, Marc, Drory, Vivan, Ticozzi, Nicola, Silani, Vincenzo, Veldink, Jan, van den Berg, Leonard, de Carvalho, Mamede, Pardina, Jesus Mora, Povedano, Monica, Andersen, Peter, Wber, Markus, Başak, Nazli, Al-Chalabi, Ammar, Shaw, Christopher, Shaw, Pamela, Morrison, Karen, Landers, John, Glass, Jonathan, Veldink, Jan H., Kirby, Janine, Snyder, Michael P., and Shaw, Pamela J.

Abstract

Amyotrophic lateral sclerosis (ALS) is an incurable neurodegenerative disease. CAV1 and CAV2 organize membrane lipid rafts (MLRs) important for cell signaling and neuronal survival, and overexpression of CAV1 ameliorates ALS phenotypes in vivo. Genome-wide association studies localize a large proportion of ALS risk variants within the non-coding genome, but further characterization has been limited by lack of appropriate tools. By designing and applying a pipeline to identify pathogenic genetic variation within enhancer elements responsible for regulating gene expression, we identify disease-associated variation within CAV1/CAV2enhancers, which replicate in an independent cohort. Discovered enhancer mutations reduce CAV1/CAV2expression and disrupt MLRs in patient-derived cells, and CRISPR-Cas9 perturbation proximate to a patient mutation is sufficient to reduce CAV1/CAV2expression in neurons. Additional enrichment of ALS-associated mutations within CAV1exons positions CAV1as an ALS risk gene. We propose CAV1/CAV2overexpression as a personalized medicine target for ALS.

Published
2020
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