Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Ester Perales‐Clemente"'
Autor:
Ester Perales‐Clemente, Angela L. Hewitt, April L. Studinski, Jan‐Mendelt Tillema, William J. Laxen, Devin Oglesbee, Arne H. Graff, Piero Rinaldo, Brendan C. Lanpher
Publikováno v:
JIMD Reports, Vol 58, Iss 1, Pp 21-28 (2021)
Abstract Introduction Nonaccidental trauma (NAT) is considered when pediatric patients present with intracranial injuries and a negative history of an accidental injury or concomitant medical diagnosis. The evaluation of NAT should include the consid
Externí odkaz:
https://doaj.org/article/051f413ccae14ef8906e30cecd0550a0
Autor:
Teun M. Klein Gunnewiek, Eline J.H. Van Hugte, Monica Frega, Gemma Solé Guardia, Katharina Foreman, Daan Panneman, Britt Mossink, Katrin Linda, Jason M. Keller, Dirk Schubert, David Cassiman, Richard Rodenburg, Noemi Vidal Folch, Devin Oglesbee, Ester Perales-Clemente, Timothy J. Nelson, Eva Morava, Nael Nadif Kasri, Tamas Kozicz
Publikováno v:
Cell Reports, Vol 31, Iss 3, Pp - (2020)
Summary: Epilepsy, intellectual and cortical sensory deficits, and psychiatric manifestations are the most frequent manifestations of mitochondrial diseases. How mitochondrial dysfunction affects neural structure and function remains elusive, mostly
Externí odkaz:
https://doaj.org/article/db72172982f844a182028f325789bcff
Autor:
Adela Guarás, Ester Perales-Clemente, Enrique Calvo, Rebeca Acín-Pérez, Marta Loureiro-Lopez, Claire Pujol, Isabel Martínez-Carrascoso, Estefanía Nuñez, Fernando García-Marqués, María Angeles Rodríguez-Hernández, Ana Cortés, Francisca Diaz, Acisclo Pérez-Martos, Carlos T. Moraes, Patricio Fernández-Silva, Aleksandra Trifunovic, Plácido Navas, Jesús Vazquez, Jose A. Enríquez
Publikováno v:
Cell Reports, Vol 15, Iss 1, Pp 197-209 (2016)
Electrons feed into the mitochondrial electron transport chain (mETC) from NAD- or FAD-dependent enzymes. A shift from glucose to fatty acids increases electron flux through FAD, which can saturate the oxidation capacity of the dedicated coenzyme Q (
Externí odkaz:
https://doaj.org/article/398fede521514fbaa72a53db1ef4ebdc
Autor:
Piero Rinaldo, Devin Oglesbee, Angela L. Hewitt, William Laxen, April Studinski, Jan Mendelt Tillema, Ester Perales-Clemente, Arne H. Graff, Brendan C. Lanpher
Publikováno v:
JIMD Reports, Vol 58, Iss 1, Pp 21-28 (2021)
JIMD Reports
JIMD Reports
Introduction Nonaccidental trauma (NAT) is considered when pediatric patients present with intracranial injuries and a negative history of an accidental injury or concomitant medical diagnosis. The evaluation of NAT should include the consideration o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83d361e0068b27f46132bfdcbc5d2ad9
https://doaj.org/article/051f413ccae14ef8906e30cecd0550a0
https://doaj.org/article/051f413ccae14ef8906e30cecd0550a0
Autor:
Dietrich Matern, Devin Oglesbee, Kimiyo Raymond, Piero Rinaldo, Dimitar Gavrilov, April Studinski, Silvia Radenkovic, Eva Morava, Ester Perales-Clemente, Kristen Liedtke, Silvia Tortorelli
Publikováno v:
Journal of inherited metabolic diseaseREFERENCES. 44(5)
Phosphoglucomutase 1 (PGM1) catalyzes the interconversion of glucose-6-phosphate to glucose-1-phosphate and is a key enzyme of glycolysis, glycogenesis, and glycogenolysis. PGM1 deficiency (OMIM: 614921) was initially defined as a glycogen storage di
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ae164cda7f380bbd2578562793ae83e
https://pubmed.ncbi.nlm.nih.gov/34043239
https://pubmed.ncbi.nlm.nih.gov/34043239
Autor:
Timothy J. Nelson, Noemi Vidal Folch, David Cassiman, Britt Mossink, Dirk Schubert, Monica Frega, Daan M. Panneman, Tamas Kozicz, Ester Perales-Clemente, Eva Morava, Eline J.H. van Hugte, Nael Nadif Kasri, Jason M. Keller, Katharina Foreman, Devin Oglesbee, Gemma Solé Guardia, Katrin Linda, Richard J. Rodenburg, T. M. Klein Gunnewiek
Publikováno v:
Cell reports, 31(3):107538. Cell Press
Cell Reports, 31
Cell Reports, 31, 3
Cell Reports, Vol 31, Iss 3, Pp-(2020)
Cell Reports, 31
Cell Reports, 31, 3
Cell Reports, Vol 31, Iss 3, Pp-(2020)
Summary: Epilepsy, intellectual and cortical sensory deficits, and psychiatric manifestations are the most frequent manifestations of mitochondrial diseases. How mitochondrial dysfunction affects neural structure and function remains elusive, mostly
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ac8022c99a563d5e6f6c2f8e602b2fa
https://hdl.handle.net/2066/218624
https://hdl.handle.net/2066/218624
Autor:
Timothy J. Nelson, Frank J. Secreto, Alyson J. Smith, Bonnie K. Arendt, Sybil C. L. Hrstka, Ester Perales-Clemente, Emma B. Brandt, Elizabeth S. Bruinsma, Xing Li, Gresin Hawse, Saji Oommen, Dennis A. Wigle
Publikováno v:
Stem Cells Translational Medicine
Human induced pluripotent stem cells (hiPSC) hold great promise in diagnostic and therapeutic applications. However, translation of hiPSC technology depends upon a means of assessing hiPSC quality that is quantitative, high-throughput, and can deciph
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0d8d1987156c9fa8e03ceea4491f669
http://europepmc.org/articles/PMC6430057
http://europepmc.org/articles/PMC6430057
Autor:
Nael Nadif Kasri, David Cassiman, Daan M. Panneman, T. M. Klein Gunnewiek, Gemma Solé Guardia, Katrin Linda, Eva Morava, Timothy J. Nelson, Jason M. Keller, Eline J.H. van Hugte, Dirk Schubert, Katharina Foreman, Tamas Kozicz, Britt Mossink, Monica Frega, Richard J. Rodenburg, Ester Perales-Clemente
SummaryEpilepsy, intellectual and cortical sensory deficits and psychiatric manifestations are among the most frequent manifestations of mitochondrial diseases. Yet, how mitochondrial dysfunction affects neural structure and function remains largely
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b74385f6ee5308995adce0b69ece25d3
https://doi.org/10.1101/720227
https://doi.org/10.1101/720227
Autor:
Jarryd M. Campbell, Weibin Liu, Noemi Vidal-Folch, Karl J. Clark, Xiaolei Xu, Stephen C. Ekker, Timothy J. Nelson, Devin Oglesbee, Hirotaka Ata, Ester Perales-Clemente
Summary ParagraphMitochondria are a network of critical intracellular organelles with diverse functions ranging from energy production to cell signaling. The mitochondrial genome (mtDNA) consists of 37 genes that support oxidative phosphorylation and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e49d190a0a6ad3c3737d841f6d8d906
https://doi.org/10.1101/287342
https://doi.org/10.1101/287342
Autor:
Sybil C. L. Hrstka, Ester Perales-Clemente, Clifford D.L. Folmes, Almudena Martinez-Fernandez, Timothy J. Nelson, Amber McDonald, Xing Li, Carmen Perez-Terzic, Andre Terzic, Devin Oglesbee
Publikováno v:
Stem Cells. 31:1298-1308
Mitochondrial diseases display pathological phenotypes according to the mixture of mutant versus wild-type mitochondrial DNA (mtDNA), known as heteroplasmy. We herein examined the impact of nuclear reprogramming and clonal isolation of induced plurip
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c015808bcc202a00dc01e8aae1f136a
https://doi.org/10.1002/stem.1389
https://doi.org/10.1002/stem.1389