Zobrazeno 1 - 10
of 185
pro vyhledávání: '"Marni J Falk"'
Autor:
Margaret A Gustafson, Elizabeth M McCormick, Lalith Perera, Matthew J Longley, Renkui Bai, Jianping Kong, Matthew Dulik, Lishuang Shen, Amy C Goldstein, Shana E McCormack, Benjamin L Laskin, Bart P Leroy, Xilma R Ortiz-Gonzalez, Meredith G Ellington, William C Copeland, Marni J Falk
Publikováno v:
PLoS ONE, Vol 14, Iss 9, p e0221829 (2019)
Mitochondrial DNA (mtDNA) genome integrity is essential for proper mitochondrial respiratory chain function to generate cellular energy. Nuclear genes encode several proteins that function at the mtDNA replication fork, including mitochondrial single
Externí odkaz:
https://doaj.org/article/63b1a4fb63464668996acd615bcb408a
Autor:
Zarazuela Zolkipli-Cunningham, Rui Xiao, Amy Stoddart, Elizabeth M McCormick, Amy Holberts, Natalie Burrill, Shana McCormack, Lauren Williams, Xiaoyan Wang, John L P Thompson, Marni J Falk
Publikováno v:
PLoS ONE, Vol 13, Iss 5, p e0197513 (2018)
BACKGROUND:Clinical treatment trials are increasingly being designed in primary mitochondrial disease (PMD), a phenotypically and genetically heterogeneous collection of inherited multi- system energy deficiency disorders that lack effective therapy.
Externí odkaz:
https://doaj.org/article/1a22933ebde349409113d28f859963aa
Publikováno v:
Frontiers in Genetics, Vol 6 (2015)
Desmin (DES) is a major muscle scaffolding protein that also functions to anchor mitochondria. Pathogenic DES mutations, however, have not previously been recognized as a cause of multi-systemic mitochondrial disease. Here, we describe a 45-year-old
Externí odkaz:
https://doaj.org/article/08934fa4a955404a818d30965d3c196b
Autor:
Jeffrey R. Boris, Edward C. Shadiack, Elizabeth M. McCormick, Laura MacMullen, Ibrahim George‐Sankoh, Marni J. Falk
Publikováno v:
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 13, Iss 14 (2024)
Background Limited data exist on long‐term outcomes in individuals with postural orthostatic tachycardia syndrome (POTS). We designed an electronic questionnaire assessing various aspects of outcomes among patients diagnosed and treated in a single
Externí odkaz:
https://doaj.org/article/d50bd2fe36f442e69ffcaf10c4b261af
Autor:
Zhe Zhang, Mai Tsukikawa, Min Peng, Erzsebet Polyak, Eiko Nakamaru-Ogiso, Julian Ostrovsky, Shana McCormack, Emily Place, Colleen Clarke, Gail Reiner, Elizabeth McCormick, Eric Rappaport, Richard Haas, Joseph A Baur, Marni J Falk
Publikováno v:
PLoS ONE, Vol 8, Iss 7, p e69282 (2013)
Primary mitochondrial respiratory chain (RC) diseases are heterogeneous in etiology and manifestations but collectively impair cellular energy metabolism. Mechanism(s) by which RC dysfunction causes global cellular sequelae are poorly understood. To
Externí odkaz:
https://doaj.org/article/c2e03b712d594c12b237fdd41b0d9428
Autor:
Marni J Falk, Julie R Rosenjack, Erzsebet Polyak, Wichit Suthammarak, Zhongxue Chen, Phil G Morgan, Margaret M Sedensky
Publikováno v:
PLoS ONE, Vol 4, Iss 8, p e6607 (2009)
Complex I dysfunction is a common, heterogeneous cause of human mitochondrial disease having poorly understood pathogenesis. The extensive conservation of complex I composition between humans and Caenorhabditis elegans permits analysis of individual
Externí odkaz:
https://doaj.org/article/ce4e7d1444054ec687394637313a46a5
Autor:
Min Peng, Marni J Falk, Volker H Haase, Rhonda King, Erzsebet Polyak, Mary Selak, Marc Yudkoff, Wayne W Hancock, Ray Meade, Ryoichi Saiki, Adam L Lunceford, Catherine F Clarke, David L Gasser
Publikováno v:
PLoS Genetics, Vol 4, Iss 4, p e1000061 (2008)
Coenzyme Q (CoQ) is an essential electron carrier in the respiratory chain whose deficiency has been implicated in a wide variety of human mitochondrial disease manifestations. Its multi-step biosynthesis involves production of polyisoprenoid diphosp
Externí odkaz:
https://doaj.org/article/4b0727f4f27f4e6eb1b2ffd376c6dd98
Publikováno v:
JIMD Reports, Vol 63, Iss 5, Pp 494-507 (2022)
Abstract Primary mitochondrial disease (PMD) encompasses a heterogeneous group of energy deficiency disorders that are typically progressive, with affected individuals experiencing an average of 16 multisystem symptoms. Clinical trials are emerging,
Externí odkaz:
https://doaj.org/article/38f8379391fe44e2ac65a11f9cdc47fe
Autor:
Chynna N. Broxton, Prabhjot Kaur, Manuela Lavorato, Smruthi Ganesh, Rui Xiao, Neal D. Mathew, Eiko Nakamaru-Ogiso, Vernon E. Anderson, Marni J. Falk
Publikováno v:
JCI Insight, Vol 7, Iss 20 (2022)
Dihydrolipoamide dehydrogenase (DLD) deficiency is a recessive mitochondrial disorder caused by depletion of DLD from α-ketoacid dehydrogenase complexes. Caenorhabditis elegans animal models of DLD deficiency generated by graded feeding of dld-1(RNA
Externí odkaz:
https://doaj.org/article/5b614ede15e547d7b1818c48a4c71263
Autor:
Isabella Peixoto de Barcelos, Dong Li, Deborah Watson, Elizabeth M. McCormick, Lisa Elden, Thomas S. Aleman, Erin C. O’Neil, Marni J. Falk, Hakon Hakonarson
Publikováno v:
Brain Sciences, Vol 13, Iss 8, p 1210 (2023)
We report a 20-year-old, female, adopted Indian patient with over 662 Mb regions of homozy-gosity who presented with intellectual disability, ataxia, schizophrenia, retinal dystrophy, moder-ate-to-severe progressive sensorineural hearing loss (SNHL),
Externí odkaz:
https://doaj.org/article/652b3ec6ac1142efa82a5536b544b19f