Search Results - "Buglo, Elena"

Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia by Cortese, Andrea, Simone, Roberto, Sullivan, Roisin, Vandrovcova, Jana, Tariq, Huma, Yau, Wai Yan, Humphrey, Jack, Jaunmuktane, Zane, Sivakumar, Prasanth, Polke, James, Ilyas, Muhammad, Tribollet, Eloise, Tomaselli, Pedro J., Devigili, Grazia, Callegari, Ilaria, Versino, Maurizio, Salpietro, Vincenzo, Efthymiou, Stephanie, Kaski, Diego, Wood, Nick W., Andrade, Nadja S., Buglo, Elena, Rebelo, Adriana, Rossor, Alexander M., Bronstein, Adolfo, Fratta, Pietro, Marques, Wilson J., Züchner, Stephan, Reilly, Mary M., Houlden, Henry

“…Late-onset ataxia is common, often idiopathic, and can result from cerebellar, proprioceptive, or vestibular impairment; when in combination, it is also termed…”
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Genetic compensation in a stable slc25a46 mutant zebrafish: A case for using F0 CRISPR mutagenesis to study phenotypes caused by inherited disease by Buglo, Elena, Sarmiento, Evan, Martuscelli, Nicole Belliard, Sant, David W, Danzi, Matt C, Abrams, Alexander J, Dallman, Julia E, Züchner, Stephan

“…A phenomenon of genetic compensation is commonly observed when an organism with a disease-bearing mutation shows incomplete penetrance of the disease…”
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Elevated preoptic brain activity in zebrafish glial glycine transporter mutants is linked to lethargy-like behaviors and delayed emergence from anesthesia by Venincasa, Michael J., Randlett, Owen, Sumathipala, Sureni H., Bindernagel, Richard, Stark, Matthew J., Yan, Qing, Sloan, Steven A., Buglo, Elena, Meng, Qing Cheng, Engert, Florian, Züchner, Stephan, Kelz, Max B., Syed, Sheyum, Dallman, Julia E.

“…Delayed emergence from anesthesia was previously reported in a case study of a child with Glycine Encephalopathy. To investigate the neural basis of this…”
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Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2 by Lassuthova, Petra, Rebelo, Adriana P., Ravenscroft, Gianina, Lamont, Phillipa J., Davis, Mark R., Manganelli, Fiore, Feely, Shawna M., Bacon, Chelsea, Brožková, Dana Šafka, Haberlova, Jana, Mazanec, Radim, Tao, Feifei, Saghira, Cima, Abreu, Lisa, Courel, Steve, Powell, Eric, Buglo, Elena, Bis, Dana M., Baxter, Megan F., Ong, Royston W., Marns, Lorna, Lee, Yi-Chung, Bai, Yunhong, Isom, Daniel G., Barro-Soria, René, Chung, Ki W., Scherer, Steven S., Larsson, H. Peter, Laing, Nigel G., Choi, Byung-Ok, Seeman, Pavel, Shy, Michael E., Santoro, Lucio, Zuchner, Stephan

“…Although mutations in more than 90 genes are known to cause CMT, the underlying genetic cause of CMT remains unknown in more than 50% of affected individuals…”
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Function Over Form: Modeling Groups of Inherited Neurological Conditions in Zebrafish by Kozol, Robert A, Abrams, Alexander J, James, David M, Buglo, Elena, Yan, Qing, Dallman, Julia E

“…Zebrafish are a unique cell to behavior model for studying the basic biology of human inherited neurological conditions. Conserved vertebrate genetics and…”
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Cryptic Amyloidogenic Elements in the 3′ UTRs of Neurofilament Genes Trigger Axonal Neuropathy by Rebelo, Adriana P., Abrams, Alexander J., Cottenie, Ellen, Horga, Alejandro, Gonzalez, Michael, Bis, Dana M., Sanchez-Mejias, Avencia, Pinto, Milena, Buglo, Elena, Markel, Kasey, Prince, Jeffrey, Laura, Matilde, Houlden, Henry, Blake, Julian, Woodward, Cathy, Sweeney, Mary G., Holton, Janice L., Hanna, Michael, Dallman, Julia E., Auer-Grumbach, Michaela, Reilly, Mary M., Zuchner, Stephan

“…Abnormal protein aggregation is observed in an expanding number of neurodegenerative diseases. Here, we describe a mechanism for intracellular toxic protein…”
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Synthesis, Characterization, and Antibacterial Activity of Structurally Complex 2-Acylated 2,3,1-Benzodiazaborines and Related Compounds by Kanichar, Divya, Roppiyakuda, Lance, Kosmowska, Ewa, Faust, Michelle A., Tran, Kim P., Chow, Felicia, Buglo, Elena, Groziak, Michael P., Sarina, Evan A., Olmstead, Marilyn M., Silva, Isba, Xu, H. Howard

“…A set of 2‐acylated 2,3,1‐benzodiazaborines and some related boron heterocycles were synthesized, characterized, and tested for antibacterial activity against…”
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Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes by Cortese, Andrea, Zhu, Yi, Rebelo, Adriana P., Negri, Sara, Courel, Steve, Abreu, Lisa, Bacon, Chelsea J., Bai, Yunhong, Bis-Brewer, Dana M., Bugiardini, Enrico, Buglo, Elena, Danzi, Matt C., Feely, Shawna M. E., Athanasiou-Fragkouli, Alkyoni, Haridy, Nourelhoda A., Isasi, Rosario, Khan, Alaa, Laurà, Matilde, Magri, Stefania, Pipis, Menelaos, Pisciotta, Chiara, Powell, Eric, Rossor, Alexander M., Saveri, Paola, Sowden, Janet E., Tozza, Stefano, Vandrovcova, Jana, Dallman, Julia, Grignani, Elena, Marchioni, Enrico, Scherer, Steven S., Tang, Beisha, Lin, Zhiqiang, Al-Ajmi, Abdullah, Schüle, Rebecca, Synofzik, Matthis, Maisonobe, Thierry, Stojkovic, Tanya, Auer-Grumbach, Michaela, Abdelhamed, Mohamed A., Hamed, Sherifa A., Zhang, Ruxu, Manganelli, Fiore, Santoro, Lucio, Taroni, Franco, Pareyson, Davide, Houlden, Henry, Herrmann, David N., Reilly, Mary M., Shy, Michael E., Zhai, R. Grace, Zuchner, Stephan

“…Here we report biallelic mutations in the sorbitol dehydrogenase gene ( SORD ) as the most frequent recessive form of hereditary neuropathy. We identified 45…”
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The Roll of COMMD1 in Membrane Protein Trafficking by Stewart, Davis, Short, Kristopher, Buglo, Elena, Burkhead, Jason

“…Abstract only Copper is essential for all life due to its role as a catalyst in redox reactions. However, it must be tightly regulated as excess copper can…”
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Insights into the genotype‐phenotype correlation and molecular function of SLC25A46 by Abrams, Alexander J., Fontanesi, Flavia, Tan, Natalie B. L., Buglo, Elena, Campeanu, Ion J., Rebelo, Adriana P., Kornberg, Andrew J., Phelan, Dean G., Stark, Zornitza, Zuchner, Stephan

“…Recessive SLC25A46 mutations cause a spectrum of neurodegenerative disorders with optic atrophy as a core feature. We report a patient with optic atrophy,…”
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Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia by Farazi Fard, Mohammad Ali, Rebelo, Adriana P., Buglo, Elena, Nemati, Hamid, Dastsooz, Hassan, Gehweiler, Ina, Reich, Selina, Reichbauer, Jennifer, Quintáns, Beatriz, Ordóñez-Ugalde, Andrés, Cortese, Andrea, Courel, Steve, Abreu, Lisa, Powell, Eric, Danzi, Matt C., Martuscelli, Nicole B., Bis-Brewer, Dana M., Tao, Feifei, Zarei, Fariba, Habibzadeh, Parham, Yavarian, Majid, Modarresi, Farzaneh, Silawi, Mohammad, Tabatabaei, Zahra, Yousefi, Masoume, Farpour, Hamid Reza, Kessler, Christoph, Mangold, Elisabeth, Kobeleva, Xenia, Tournev, Ivailo, Chamova, Teodora, Mueller, Amelie J., Haack, Tobias B., Tarnopolsky, Mark, Gan-Or, Ziv, Rouleau, Guy A., Synofzik, Matthis, Sobrido, María-Jesús, Jordanova, Albena, Schüle, Rebecca, Zuchner, Stephan, Faghihi, Mohammad Ali

“…The diagnostic gap for rare neurodegenerative diseases is still considerable, despite continuous advances in gene identification. Many novel Mendelian genes…”
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A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement by Rebelo, Adriana P, Cortese, Andrea, Abraham, Amit, Eshed-Eisenbach, Yael, Shner, Gal, Vainshtein, Anna, Buglo, Elena, Camarena, Vladimir, Gaidosh, Gabriel, Shiekhattar, Ramin, Abreu, Lisa, Courel, Steve, Burns, Dennis K, Bai, Yunhong, Bacon, Chelsea, Feely, Shawna M E, Castro, Diana, Peles, Elior, Reilly, Mary M, Shy, Michael E, Zuchner, Stephan

“…The CADM family of proteins consists of four neuronal specific adhesion molecules (CADM1, CADM2, CADM3 and CADM4) that mediate the direct contact and…”
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Erratum to: A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement by Rebelo, Adriana P, Cortese, Andrea, Abraham, Amit, Eshed-Eisenbach, Yael, Shner, Gal, Vainshtein, Anna, Buglo, Elena, Camarena, Vladimir, Gaidosh, Gabriel, Shiekhattar, Ramin, Abreu, Lisa, Courel, Steve, Burns, Dennis K, Bai, Yunhong, Bacon, Chelsea, Feely, Shawna M E, Castro, Diana, Peles, Elior, Reilly, Mary M, Shy, Michael E, Zuchner, Stephan

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Autoimmune Reaction Associated With Long COVID Syndrome and Cardiovascular Disease by Safronenka, Anita, Capcha, Jose M.C., Webster, Keith A., Buglo, Elena, Tamariz, Leonardo, Goldberger, Jeffrey J., Shehadeh, Lina A.

“…A 35-year-old woman with history of cardiovascular disease presented with shortness of breath, lightheadedness, fatigue, chest pain, and premature ventricular…”
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Zebrafish: A Pharmacogenetic Model for Anesthesia by Bedell, Victoria, Buglo, Elena, Marcato, Daniel, Pylatiuk, Christian, Mikut, Ralf, Stegmaier, Johannes, Scudder, Will, Wray, Maxwell, Züchner, Stephan, Strähle, Uwe, Peravali, Ravindra, Dallman, Julia E

“…General anesthetics are small molecules that interact with and effect the function of many different proteins to promote loss of consciousness, amnesia, and…”
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Autoimmune Reaction Associated With Long COVID Syndrome and Cardiovascular Disease: A Genetic Case Report by Safronenka, Anita, Capcha, Jose M C, Webster, Keith A, Buglo, Elena, Tamariz, Leonardo, Goldberger, Jeffrey J, Shehadeh, Lina A

“…A 35-year-old woman with history of cardiovascular disease presented with shortness of breath, lightheadedness, fatigue, chest pain, and premature ventricular…”
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Author Correction: Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes by Cortese, Andrea, Zhu, Yi, Rebelo, Adriana P., Negri, Sara, Courel, Steve, Abreu, Lisa, Bacon, Chelsea J., Bai, Yunhong, Bis-Brewer, Dana M., Bugiardini, Enrico, Buglo, Elena, Danzi, Matt C., Feely, Shawna M. E., Athanasiou-Fragkouli, Alkyoni, Haridy, Nourelhoda A., Isasi, Rosario, Khan, Alaa, Laurà, Matilde, Magri, Stefania, Pipis, Menelaos, Pisciotta, Chiara, Powell, Eric, Rossor, Alexander M., Saveri, Paola, Sowden, Janet E., Tozza, Stefano, Vandrovcova, Jana, Dallman, Julia, Grignani, Elena, Marchioni, Enrico, Scherer, Steven S., Tang, Beisha, Lin, Zhiqiang, Al-Ajmi, Abdullah, Schüle, Rebecca, Synofzik, Matthis, Maisonobe, Thierry, Stojkovic, Tanya, Auer-Grumbach, Michaela, Abdelhamed, Mohamed A., Hamed, Sherifa A., Zhang, Ruxu, Manganelli, Fiore, Santoro, Lucio, Taroni, Franco, Pareyson, Davide, Houlden, Henry, Herrmann, David N., Reilly, Mary M., Shy, Michael E., Zhai, R. Grace, Zuchner, Stephan

“…An amendment to this paper has been published and can be accessed via a link at the top of the paper…”
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Author Correction: Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia by Cortese, Andrea, Simone, Roberto, Sullivan, Roisin, Vandrovcova, Jana, Tariq, Huma, Yau, Wai Yan, Humphrey, Jack, Jaunmuktane, Zane, Sivakumar, Prasanth, Polke, James, Ilyas, Muhammad, Tribollet, Eloise, Tomaselli, Pedro J., Devigili, Grazia, Callegari, Ilaria, Versino, Maurizio, Salpietro, Vincenzo, Efthymiou, Stephanie, Kaski, Diego, Wood, Nick W., Andrade, Nadja S., Buglo, Elena, Rebelo, Adriana, Rossor, Alexander M., Bronstein, Adolfo, Fratta, Pietro, Marques, Wilson J., Züchner, Stephan, Reilly, Mary M., Houlden, Henry

“…In the version of this article initially published, the name of author Wai Yan Yau was misspelled. The error has been corrected in the HTML and PDF versions of…”
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New Angular Polycyclic Aromatic Boron Heterocycle Ring Systems by Nourie, Hannah C., Buglo, Elena, Groziak, Michael P., Sarina, Evan A., Olmstead, Marilyn M.

“…2‐Formylphenylboronic acid condenses with salicyloyl and anthraniloyl hydrazines directly to generate dibenzo‐fused versions of…”
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Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia by Farazi Fard, Mohammad Ali, Rebelo, Adriana P., Buglo, Elena, Nemati, Hamid, Dastsooz, Hassan, Gehweiler, Ina, Reich, Selina, Reichbauer, Jennifer, Quintáns, Beatriz, Ordóñez-Ugalde, Andrés, Cortese, Andrea, Courel, Steve, Abreu, Lisa, Powell, Eric, Danzi, Matt C., Martuscelli, Nicole B., Bis-Brewer, Dana M., Tao, Feifei, Zarei, Fariba, Habibzadeh, Parham, Yavarian, Majid, Modarresi, Farzaneh, Silawi, Mohammad, Tabatabaei, Zahra, Yousefi, Masoume, Farpour, Hamid Reza, Kessler, Christoph, Mangold, Elisabeth, Kobeleva, Xenia, Tournev, Ivailo, Chamova, Teodora, Mueller, Amelie J., Haack, Tobias B., Tarnopolsky, Mark, Gan-Or, Ziv, Rouleau, Guy A., Synofzik, Matthis, Sobrido, María-Jesús, Jordanova, Albena, Schüle, Rebecca, Zuchner, Stephan, Faghihi, Mohammad Ali

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