Search Results - "Guenzel, Adam J."

FOXO3a regulates BNIP3 and modulates mitochondrial calcium, dynamics, and function in cardiac stress by Chaanine, Antoine H, Kohlbrenner, Erik, Gamb, Scott I, Guenzel, Adam J, Klaus, Katherine, Fayyaz, Ahmed U, Nair, K Sreekumaran, Hajjar, Roger J, Redfield, Margaret M

“…The forkhead box O3a (FOXO3a) transcription factor has been shown to regulate glucose metabolism, muscle atrophy, and cell death in postmitotic cells. Its role…”
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Familial variability of cerebrotendinous xanthomatosis lacking typical biochemical findings by Guenzel, Adam J., DeBarber, Andrea, Raymond, Kimiyo, Dhamija, Radhika

“…Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder of bile acid synthesis caused by pathogenic variants in the CYP27A1 gene encoding…”
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Mitochondrial Integrity and Function in the Progression of Early Pressure Overload-Induced Left Ventricular Remodeling by Chaanine, Antoine H, Sreekumaran Nair, K, Bergen, 3rd, Robert H, Klaus, Katherine, Guenzel, Adam J, Hajjar, Roger J, Redfield, Margaret M

“…Following pressure overload, compensatory concentric left ventricular remodeling (CR) variably transitions to eccentric remodeling (ER) and systolic…”
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The low excretor phenotype of glutaric acidemia type I is a source of false negative newborn screening results and challenging diagnoses by Guenzel, Adam J., Hall, Patricia L., Scott, Anna I., Lam, Christina, Chang, Irene J., Thies, Jenny, Ferreira, Carlos R., Pichurin, Pavel, Laxen, William, Raymond, Kimiyo, Gavrilov, Dimitar K., Oglesbee, Devin, Rinaldo, Piero, Matern, Dietrich, Tortorelli, Silvia

“…Background Glutaric acidemia type I (GA1) is an organic acidemia that is often unrecognized in the newborn period until patients suffer an acute…”
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The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease by Guenzel, Adam J., Turgeon, Coleman T., Nickander, Kim K., White, Amy L., Peck, Dawn S., Pino, Gisele B., Studinski, April L., Prasad, Vinod K., Kurtzberg, Joanne, Escolar, Maria L., Lasio, Maria Laura Duque, Pellegrino, Joan E., Sakonju, Ai, Hickey, Rachel E., Shallow, Natalie M., Ream, Margie A., Orsini, Joseph J., Gelb, Michael H., Raymond, Kimiyo, Gavrilov, Dimitar K., Oglesbee, Devin, Rinaldo, Piero, Tortorelli, Silvia, Matern, Dietrich

“…Purpose Newborn screening (NBS) for Krabbe disease (KD) is performed by measurement of galactocerebrosidase (GALC) activity as the primary test. This revealed…”
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Experimental cardiac radiation exposure induces ventricular diastolic dysfunction with preserved ejection fraction by Saiki, Hirofumi, Moulay, Gilles, Guenzel, Adam J, Liu, Weibin, Decklever, Teresa D, Classic, Kelly L, Pham, Linh, Chen, Horng H, Burnett, John C, Russell, Stephen J, Redfield, Margaret M

“…Breast cancer radiotherapy increases the risk of heart failure with preserved ejection fraction (HFpEF). Cardiomyocytes are highly radioresistant, but…”
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Long-term sex-biased correction of circulating propionic acidemia disease markers by adeno-associated virus vectors by Guenzel, Adam J, Collard, Renata, Kraus, Jan P, Matern, Dietrich, Barry, Michael A

“…Propionic academia (PA) occurs because of mutations in the PCCA or PCCB genes encoding the two subunits of propionyl-CoA carboxylase, a pivotal enzyme in the…”
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Pathogenic implications of dysregulated miRNAs in propionic acidemia related cardiomyopathy by Fulgencio-Covián, Alejandro, Alonso-Barroso, Esmeralda, Guenzel, Adam J., Rivera-Barahona, Ana, Ugarte, Magdalena, Pérez, Belén, Barry, Michael A., Pérez-Cerdá, Celia, Richard, Eva, Desviat, Lourdes R.

“…Cardiac alterations (hypertrophic/dilated cardiomyopathy, and rhythm alterations) are one of the major causes of mortality and morbidity in propionic acidemia…”
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The phenotypic and genotypic spectrum of individuals with mono‐ or biallelic ANK3 variants by Furia, Francesca, Levy, Amanda M., Theunis, Miel, Bamshad, Michael J., Bartos, Meghan N., Bijlsma, Emilia K., Brancati, Francesco, Cejudo, Lucile, Chong, Jessica X., De Luca, Chiara, Dean, Sarah Joy, Egense, Alena, Goel, Himanshu, Guenzel, Adam J., Hüffmeier, Ulrike, Legius, Eric, Mancini, Grazia M. S., Marcos‐Alcalde, Iñigo, Niclass, Tanguy, Planes, Marc, Redon, Sylvia, Ros‐Pardo, David, Rouault, Karen, Schot, Rachel, Schuhmann, Sarah, Shen, Joseph J., Tao, Alice M., Thiffault, Isabelle, Van Esch, Hilde, Wentzensen, Ingrid M., Barakat, Tahsin Stefan, Møller, Rikke S., Gomez‐Puertas, Paulino, Chung, Wendy K., Gardella, Elena, Tümer, Zeynep

“…ANK3 encodes ankyrin‐G, a protein involved in neuronal development and signaling. Alternative splicing gives rise to three ankyrin‐G isoforms comprising…”
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Generation of a Hypomorphic Model of Propionic Acidemia Amenable to Gene Therapy Testing by Guenzel, Adam J, Hofherr, Sean E, Hillestad, Matthew, Barry, Mary, Weaver, Eric, Venezia, Sarah, Kraus, Jan P, Matern, Dietrich, Barry, Michael A

“…Propionic acidemia (PA) is a recessive genetic disease that results in an inability to metabolize certain amino acids and odd-chain fatty acids. Current…”
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Effects of adeno-associated virus serotype and tissue-specific expression on circulating biomarkers of propionic acidemia by Guenzel, Adam J, Hillestad, Matthew L, Matern, Dietrich, Barry, Michael A

“…Propionic acidemia (PA) is an autosomal recessive inborn error of metabolism caused by deficiency of propionyl-CoA carboxylase (PCC). This enzyme is composed…”
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Clinical utility of next generation sequencing to detect IGH/IL3 rearrangements [t(5;14)(q31.1;q32.1)] in B-lymphoblastic leukemia/lymphoma by Guenzel, Adam J., Smadbeck, James B., Golden, Crystal L., Williamson, Cynthia M., Benevides Demasi, Jonna C., Vasmatzis, George, Pearce, Kathryn E., Olteanu, Horatiu, Xu, Xinjie, Hoppman, Nicole L., Greipp, Patricia T., Baughn, Linda B., Ketterling, Rhett P., Peterson, Jess F.

“…The t(5;14)(q31.1;q32.1) associated with B-lymphoblastic leukemia/lymphoma (B-ALL/LBL) is a rare, recurrent genetic abnormality recognized as a distinct entity…”
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Mucosal vaccination by adenoviruses displaying reovirus sigma 1 by Weaver, Eric A, Camacho, Zenaido T, Hillestad, Matthew L, Crosby, Catherine M, Turner, Mallory A, Guenzel, Adam J, Fadel, Hind J, Mercier, George T, Barry, Michael A

“…Abstract We developed adenovirus serotype 5 (Ad5) vectors displaying the sigma 1 protein from reovirus as mucosal vaccines. Ad5-sigma retargets to JAM-1 and…”
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A vector-host system to fingerprint virus tropism by Hillestad, Matthew L, Guenzel, Adam J, Nath, Karl A, Barry, Michael A

“…Reporter genes are important tools for assessing vector pharmacology in vivo. Although useful, current systems are limited by (1) the need to generate a new…”
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Generation of a Hypomorphic Model of Propionic Acidemia Amenable to Gene Therapy Testing by Guenzel, Adam J, Hofherr, Sean E, Hillestad, Matthew, Barry, Mary, Weaver, Eric, Venezia, Sarah, Kraus, Jan P, Matern, Dietrich, Barry, Michael A

“…Propionic acidemia (PA) is a recessive genetic disease that results in an inability to metabolize certain amino acids and odd-chain fatty acids. Current…”
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Gene therapy for the treatment of propionic acidemia by Guenzel, Adam J

“…Propionic acidemia is an organic acidemia that results from mutations in the PCCA or PCCB genes responsible for the two protein subunits of the propionyl-CoA…”
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Abstract 15258: Radiation Induced Coronary Microvascular Compromise; a Novel Rodent Model of Heart Failure With Preserved Ejection Fraction by Saiki, Hirofumi, Moulay, Gilles T, Guenzel, Adam J, Liu, Weibin, Chaanine, Antoine H, Pham, Linh, Classic, Kelly L, Decklever, Teresa D, Chen, Horng H, Burnett, John C, Russell, Stephen J, Redfield, Margaret M

“…IntroductionComorbidity-driven, coronary microvascular endothelial inflammation may be the fundamental pathophysiologic mechanism in heart failure with…”
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Familial variability of cerebrotendinous xanthomatosis lacking typical biochemical findings by Guenzel, Adam J, DeBarber, Andrea, Raymond, Kimiyo, Dhamija, Radhika

“…Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder of bile acid synthesis caused by pathogenic variants in the CYP27A1 gene encoding…”
Get full text