Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Randall C. Mazzarino"'
Autor:
Paula Perez-Corredor, Timothy E. Vanderleest, Guido N. Vacano, Justin S. Sanchez, Nelson D. Villalba-Moreno, Claudia Marino, Susanne Krasemann, Miguel A. Mendivil-Perez, David Aguillón, Marlene Jiménez-Del-Río, Ana Baena, Diego Sepulveda-Falla, Francisco Lopera, Yakeel T. Quiroz, Joseph F. Arboleda-Velasquez, Randall C. Mazzarino
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 17 (2024)
A patient with the PSEN1 E280A mutation and homozygous for APOE3 Christchurch (APOE3Ch) displayed extreme resistance to Alzheimer’s disease (AD) cognitive decline and tauopathy, despite having a high amyloid burden. To further investigate the diffe
Externí odkaz:
https://doaj.org/article/5a75deb4bb57460d9fea9624ee74d0f7
Autor:
Randall C. Mazzarino
Publikováno v:
Frontiers in Immunology, Vol 12 (2021)
We are currently experiencing a deadly novel viral pandemic with no efficacious, readily available anti-viral therapies to SARS-CoV-2. Viruses will hijack host cellular machinery, including metabolic processes. Here, I provide theory and evidence for
Externí odkaz:
https://doaj.org/article/bf8c61600dba4833b1a3c48e59c265ad
Autor:
Randall C. Mazzarino, Veronika Baresova, Marie Zikánová, Nathan Duval, Terry G. Wilkinson, II, David Patterson, Guido N. Vacano
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 25, Iss , Pp 100642- (2020)
In de novo purine biosynthesis (DNPS), 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase (EC 2.1.2.3)/inosine monophosphate cyclohydrolase (EC 3.5.4.10) (ATIC) catalyzes the last two reactions of the pathway: conversion of 5-aminoimidaz
Externí odkaz:
https://doaj.org/article/9d371210153f41a2a86d1a26c04d6739
Autor:
Randall C. Mazzarino, Veronika Baresova, Marie Zikánová, Nathan Duval, Terry G. Wilkinson, II, David Patterson, Guido N. Vacano
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 21, Iss , Pp - (2019)
Adenylosuccinate lyase (ADSL) catalyzes two steps in de novo purine synthesis (DNPS). Mutations in ADSL can result in inborn errors of metabolism characterized by developmental delay and disorder phenotypes, with no effective treatment options. Recen
Externí odkaz:
https://doaj.org/article/888860c192834a11b698b87f3b09b951
Autor:
Lilia A. Koza, Aimee N. Winter, Jessica Holsopple, Angela N. Baybayon-Grandgeorge, Claudia Pena, Jeffrey R. Olson, Randall C. Mazzarino, David Patterson, Daniel A. Linseman
Publikováno v:
Nutrients, Vol 12, Iss 6, p 1824 (2020)
Amyotrophic lateral sclerosis (ALS) is a devastating disorder characterized by motor neuron apoptosis and subsequent skeletal muscle atrophy caused by oxidative and nitrosative stress, mitochondrial dysfunction, and neuroinflammation. Anthocyanins ar
Externí odkaz:
https://doaj.org/article/97838af746bb4f69b6fae23792e48ad6
Autor:
Francisco Lopera, Claudia Marino, Anita S. Chandrahas, Michael O’Hare, Nelson David Villalba-Moreno, David Aguillon, Ana Baena, Justin S. Sanchez, Clara Vila-Castelar, Liliana Ramirez Gomez, Natalia Chmielewska, Gabriel M. Oliveira, Jessica Lisa Littau, Kristin Hartmann, Kyungeun Park, Susanne Krasemann, Markus Glatzel, Dorothee Schoemaker, Lucia Gonzalez-Buendia, Santiago Delgado-Tirado, Said Arevalo-Alquichire, Kahira L. Saez-Torres, Dhanesh Amarnani, Leo A. Kim, Randall C. Mazzarino, Harper Gordon, Yamile Bocanegra, Andres Villegas, Xiaowu Gai, Moiz Bootwalla, Jianling Ji, Lishuang Shen, Kenneth S. Kosik, Yi Su, Yinghua Chen, Aaron Schultz, Reisa A. Sperling, Keith Johnson, Eric M. Reiman, Diego Sepulveda-Falla, Joseph F. Arboleda-Velasquez, Yakeel T. Quiroz
Publikováno v:
Nature Medicine. 29:1243-1252
We characterized the world’s second case with ascertained extreme resilience to autosomal dominant Alzheimer’s disease (ADAD). Side-by-side comparisons of this male case and the previously reported female case with ADAD homozygote for the APOE3 C
Autor:
Randall C. Mazzarino, Veronika Baresova, Guido N. Vacano, Marie Zikanova, Terry G. Wilkinson, Nathan Duval, David Patterson
Publikováno v:
PLoS ONE
PLoS ONE, Vol 16, Iss 7, p e0247227 (2021)
PLoS ONE, Vol 16, Iss 7, p e0247227 (2021)
In humans, GART [phosphoribosylglycinamide formyltransferase (EC 2.1.2.2) / phosphoribosylglycinamide synthetase (EC 6.3.4.13) / phosphoribosylaminoimidazole synthetase (EC 6.3.3.1)] is a trifunctional protein which catalyzes the second, third, and f
Autor:
Ilia Kurochkin, Anna Tkachev, Vita Stepanova, Ekaterina Khrameeva, David Patterson, Svante Pääbo, Oliver Baker, Nathan Duval, Linda Dombrowski, Stephan Riesenberg, Guido N. Vacano, Terry G. Wilkinson, Ronald Naumann, Elena Stekolshchikova, Dmitri Zubkov, Kaja Ewa Moczulska, Maria Schörnig, Xiangchun Ju, Anna Vanushkina, Philipp Khaitovich, Randall C. Mazzarino, Tomislav Maricic, Patrick Giavalisco, Dominik Macak, Konstantinos Anastassiadis, Alina Egorova
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7042b30ed9c19c778a1b4f97e24e9589
https://doi.org/10.7554/elife.58741.sa2
https://doi.org/10.7554/elife.58741.sa2
Autor:
Svante Pääbo, Philipp Khaitovich, Dominik Macak, Nathan Duval, Stephan Riesenberg, Guido N. Vacano, Terry G. Wilkinson, Maria Schörnig, Dmitri Zubkov, Xiangchun Ju, Ronald Naumann, Oliver Baker, Ilia Kurochkin, Randall C. Mazzarino, Ekaterina Khrameeva, Anna Vanyushkina, Linda Dombrowski, Patrick Giavalisco, Elena Stekolschikova, Konstantinos Anastassiadis, Kaja Ewa Moczulska, Vita V. Stepanova, David Patterson, Tomislav Maricic
We analyze the metabolomes of humans, chimpanzees and macaques in muscle, kidney and three different regions of the brain. Whereas several compounds in amino acid metabolism occur at either higher or lower concentrations in humans than in the other p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd3ede6407f756aed3013f8da3e125c7
https://doi.org/10.1101/2020.05.11.087338
https://doi.org/10.1101/2020.05.11.087338
Autor:
Terry G. Wilkinson, Veronika Baresova, Randall C. Mazzarino, Guido N. Vacano, David Patterson, Marie Zikanova, Nathan Duval
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 21, Iss, Pp-(2019)
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports
Adenylosuccinate lyase (ADSL) catalyzes two steps in de novo purine synthesis (DNPS). Mutations in ADSL can result in inborn errors of metabolism characterized by developmental delay and disorder phenotypes, with no effective treatment options. Recen