نتایج جستجو برای: narp

تعداد نتایج: 191  

Journal: :Processes 2021

The m.8993T>G mutation of the mitochondrial MT-ATP6 gene is associated with NARP syndrome (neuropathy, ataxia and retinitis pigmentosa). equivalent point introduced in yeast Saccharomyces cerevisiae DNA considerably reduced activity ATP synthase cytochrome-c-oxidase, preventing growth on oxidative substrates. overexpression oxodicarboxylate carrier (Odc1p) was able to rescue substrate by inc...

2013
Ashley M. Blouin Sungho Han Anne M. Pearce KaiLun Cheng JongAh J. Lee Alexander W. Johnson Chuansong Wang Matthew J. During Peter C. Holland Yavin Shaham Jay M. Baraban Irving M. Reti

Role of medial prefrontal cortex Narp in the extinction of morphine conditioned place preference Ashley M. Blouin, Sungho Han, Anne M. Pearce, KaiLun Cheng, JongAh J. Lee, Alexander W. Johnson, Chuansong Wang, Matthew J. During, Peter C. Holland, Yavin Shaham, Jay M. Baraban, and Irving M. Reti Department of Psychiatry and Behavioral Sciences, Johns Hopkins School of Medicine, Baltimore, Maryla...

Journal: :Cell 2015
Pradeep Reddy Alejandro Ocampo Keiichiro Suzuki Jinping Luo Sandra R. Bacman Sion L. Williams Atsushi Sugawara Daiji Okamura Yuji Tsunekawa Jun Wu David Lam Xiong Xiong Nuria Montserrat Concepcion Rodriguez Esteban Guang-Hui Liu Ignacio Sancho-Martinez Dolors Manau Salva Civico Francesc Cardellach Maria del Mar O’Callaghan Jaime Campistol Huimin Zhao Josep M. Campistol Carlos T. Moraes Juan Carlos Izpisua Belmonte

Mitochondrial diseases include a group of maternally inherited genetic disorders caused by mutations in mtDNA. In most of these patients, mutated mtDNA coexists with wild-type mtDNA, a situation known as mtDNA heteroplasmy. Here, we report on a strategy toward preventing germline transmission of mitochondrial diseases by inducing mtDNA heteroplasmy shift through the selective elimination of mut...

2017
Caroline Demily Charlyne Duwime Alice Poisson Nathalie Boddaert Arnold Munnich

Little is known regarding the management of psychotic disorders in NARP syndrome. We report the case of a 30 year-old Caucasian male, born from healthy unrelated parents. During his first year, he presented cerebellar ataxia with pyramidal syndrome. Sequencing his leukocyte and urinary mtDNA detected a heteroplasmicmutation (95%) in the MTATP6 gene (m.8993TNC) [1]. At 28 years, he presented a p...

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