Results 41 to 50 of about 1,641 (164)

Elongator and codon bias regulate protein levels in mammalian peripheral neurons

Nature Communications, 2018
Familial dysautonomia is linked to mutations in IKBKAP, a scaffolding protein for the Elongator complex, which regulates codon-biased gene translation in yeast. Here the authors show in mammalian neurons that IKBKAP loss alters expression of codon-biased
Joy Goffena, Frances Lefcort, Yongqing Zhang, Elin Lehrmann, Marta Chaverra, Jehremy Felig, Joseph Walters, Richard Buksch, Kevin G. Becker, Lynn George   +9 more
doaj   +1 more source

Phosphatidylserine enhancesIKBKAPtranscription by activating the MAPK/ERK signaling pathway [PDF]

Human Molecular Genetics, 2016
Familial dysautonomia (FD) is a genetic disorder manifested due to abnormal development and progressive degeneration of the sensory and autonomic nervous system. FD is caused by a point mutation in the IKBKAP gene encoding the IKAP protein, resulting in decreased protein levels. A promising potential treatment for FD is phosphatidylserine (PS); however,
Maya, Donyo, Dror, Hollander, Ziv, Abramovitch, Shiran, Naftelberg, Gil, Ast   +4 more
openaire   +2 more sources

Myocardial ischaemia reperfusion injury and cardioprotection in the presence of sensory neuropathy: Therapeutic options

British Journal of Pharmacology, Volume 177, Issue 23, Page 5336-5356, December 2020., 2020
During the last decades, mortality from acute myocardial infarction has been dramatically reduced. However, the incidence of post‐infarction heart failure is still increasing. Cardioprotection by ischaemic conditioning had been discovered more than three decades ago. Its clinical translation, however, is still an unmet need.
Péter Bencsik, Kamilla Gömöri, Tamara Szabados, Péter Sántha, Zsuzsanna Helyes, Gábor Jancsó, Péter Ferdinandy, Anikó Görbe   +7 more
wiley   +1 more source

Loss ofIkbkapCauses Slow, Progressive Retinal Degeneration in a Mouse Model of Familial Dysautonomia [PDF]

eneuro, 2016
AbstractFamilial dysautonomia (FD) is an autosomal recessive congenital neuropathy that is caused by a mutation in the gene for inhibitor of kappa B kinase complex-associated protein (IKBKAP). Although FD patients suffer from multiple neuropathies, a major debilitation that affects their quality of life is progressive blindness.
Yumi Ueki, Grisela Ramirez, Ernesto Salcedo, Maureen E. Stabio, Frances Lefcort   +4 more
openaire   +2 more sources

CircHivep2 contributes to microglia activation and inflammation via miR‐181a‐5p/SOCS2 signalling in mice with kainic acid‐induced epileptic seizures

Journal of Cellular and Molecular Medicine, Volume 24, Issue 22, Page 12980-12993, November 2020., 2020
Abstract Epilepsy is a chronic brain disease characterized by recurrent seizures. Circular RNA (circRNA) is a novel family of endogenous non‐coding RNAs that have been proposed to regulate gene expression. However, there is a lack of data on the role of circRNA in epilepsy. In this study, the circRNA profiles were evaluated by microarray analysis.
Gao Xiaoying, Mian Guo, Liu Jie, Zhu Yanmei, Cui Ying, Shu Shengjie, Gou Haiyan, Sun Feixiang, Qi Sihua, Sun Jiahang   +9 more
wiley   +1 more source

Genome-wide analysis of gene expression in primate taste buds reveals links to diverse processes. [PDF]

PLoS ONE, 2009
Efforts to unravel the mechanisms underlying taste sensation (gustation) have largely focused on rodents. Here we present the first comprehensive characterization of gene expression in primate taste buds.
Peter Hevezi, Bryan D Moyer, Min Lu, Na Gao, Evan White, Fernando Echeverri, Dalia Kalabat, Hortensia Soto, Bianca Laita, Cherry Li, Shaoyang Anthony Yeh, Mark Zoller, Albert Zlotnik   +12 more
doaj   +1 more source

Evaluation and classification of severity for 176 genes on an expanded carrier screening panel

Prenatal Diagnosis, Volume 40, Issue 10, Page 1246-1257, September 2020., 2020
Abstract Background Disease severity is important when considering genes for inclusion on reproductive expanded carrier screening (ECS) panels. We applied a validated and previously published algorithm that classifies diseases into four severity categories (mild, moderate, severe, and profound) to 176 genes screened by ECS.
Aishwarya Arjunan, Holly Bellerose, Raul Torres, Rotem Ben‐Shachar, Jodi D. Hoffman, Brad Angle, Robert Nathan Slotnick, Brittany N. Simpson, Andrea M. Lewis, Pilar L. Magoulas, Kelly Bontempo, Jeanine Schulze, Jennifer Tarpinian, Jessica A. Bucher, Richard Dineen, Allison Goetsch, Gabriel A. Lazarin, Katherine Johansen Taber   +17 more
wiley   +1 more source

Comprehensive in silico Analysis of IKBKAP gene that could potentially cause Familial dysautonomia [PDF]

, 2018
Abstract Background Familial dysautonomia (FD) is a rare neurodevelopmental genetic disorder within the larger classification of hereditary sensory and autonomic neuropathies. We aimed to identify the pathogenic SNPs in IKBKAP gene
Mustafa, Mujahed I., Osman, Enas A., Abdelmoneiom, Abdelrahman H., Hassn, Dania M., Yousif, Hadeel M., Mahgoub, Inshrah K., Badawi, Razan M., Albushra, Kutuf A., Abdelhameed, Tebyan A, Hassan, Mohamed A.   +9 more
openaire   +1 more source

IKBKAP shRNAs reduce levels of IKAP protein and IKBKAP mRNA in ovo.

, 2013
(A) Schematic combines the known partial chicken IKBKAP sequence with the human IKBKAP sequence and indicates the regions of chicken IKBKAP to which shRNAs were designed and the regions used as the immunogens for generation of both antibodies (P1D8 and ...
Marta Chaverra (331391), Frances Lefcort (331394), Barbara J. Hunnicutt (331390), Lynn George (331393)   +3 more
core   +1 more source

Phosphatidylserine improves axonal transport by inhibition of HDAC and has potential in treatment of neurodegenerative diseases

Neural Regeneration Research, 2017
Familial dysautonomia (FD) is a rare children neurodegenerative disease caused due to a point mutation in the IKBKAP gene that results in decreased IKK complex-associated protein (IKAP) protein production.
Shiran Naftelberg, Gil Ast, Eran Perlson
doaj   +1 more source