نتایج جستجو برای: narp

تعداد نتایج: 191  

Journal: :Biochemical Society transactions 2006
R N Whitehead J A Cole

The ability of Escherichia coli to use both nitrate and nitrite as terminal electron acceptors during anaerobic growth is mediated by the dual-acting two-component regulatory systems NarX-NarL and NarQ-NarP. In contrast, Neisseria gonorrhoeae responds only to nitrite: it expresses only NarQ-NarP. We have shown that although N. gonorrhoeae NarQ can phosphorylate E. coli NarL and NarP, the N. gon...

Journal: :The British journal of ophthalmology 1999
I Chowers T Lerman-Sagie O N Elpeleg A Shaag S Merin

AIMS Description of the ophthalmic manifestations of the NARP (neuropathy, ataxia, retinitis pigmentosa) syndrome that is associated with a point mutation in position 8993 of the mitochondrial DNA (mtDNA). METHODS A mother and her two children, all carrying the 8993 mtDNA mutation, were examined. Two had manifestations of the NARP syndrome. A complete ocular and systemic examination was perfo...

Journal: :Neuron 2013
Yu Gu Shiyong Huang Michael C. Chang Paul Worley Alfredo Kirkwood Elizabeth M. Quinlan

The immediate early gene neuronal activity-regulated pentraxin (NARP) is an α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor (AMPAR) binding protein that is specifically enriched at excitatory synapses onto fast-spiking parvalbumin-positive interneurons (FS [PV] INs). Here, we show that transgenic deletion of NARP decreases the number of excitatory synaptic inputs onto FS (PV) INs ...

Journal: :Journal of bacteriology 1998
A J Darwin E C Ziegelhoffer P J Kiley V Stewart

The expression of several Escherichia coli operons is activated by the Fnr protein during anaerobic growth and is further controlled in response to nitrate and nitrite by the homologous response regulators, NarL and NarP. Among these operons, the napF operon, encoding a periplasmic nitrate reductase, has unique features with respect to its Fnr-, NarL-, and NarP-dependent regulation. First, the ...

Journal: :Acta psychiatrica Scandinavica 2006
J Alaghband-Rad M Boroumand H Amini V Sharifi A Omid R Davari-Ashtiani A Seddigh F Momeni Z Aminipour

OBJECTIVE To investigate the concept of 'Non-affective Acute Remitting Psychosis' (NARP) in a group of patients with first episode psychosis in Iran. METHOD This is a 24-month follow-up study of 54 patients with first-episode psychosis admitted consecutively to a psychiatric hospital in Tehran, Iran. At the end of follow-up, consensus judgments were made on fulfillment of the NARP criteria as...

Journal: :The Journal of biological chemistry 2001
L G Nijtmans N S Henderson G Attardi I J Holt

Mutations in human mitochondrial DNA are a well recognized cause of disease. A mutation at nucleotide position 8993 of human mitochondrial DNA, located within the gene for ATP synthase subunit 6, is associated with the neurological muscle weakness, ataxia, and retinitis pigmentosa (NARP) syndrome. To enable analysis of this mutation in control nuclear backgrounds, two different cell lines were ...

Journal: :Neuron 2003
Desheng Xu Carsten Hopf Radhika Reddy Richard W. Cho Liping Guo Anthony Lanahan Ronald S. Petralia Robert J. Wenthold Richard J. O'Brien Paul Worley

Narp is a neuronal immediate early gene that plays a role in excitatory synaptogenesis. Here, we report that native Narp in brain is part of a pentraxin complex that includes NP1. These proteins are covalently linked by disulfide bonds into highly organized complexes, and their relative ratio in the complex is dynamically dependent upon the neuron's activity history and developmental stage. Com...

Journal: :Epileptic disorders : international epilepsy journal with videotape 2006
Tapani Keränen Hanna Kuusisto

The neurogenic muscle weakness, ataxia and retinitis pigmentosa (NARP) syndrome is a maternally inherited disorder attributable to a heteroplasmic mtDNA point mutation. Catastrophic epilepsy may accompany severe, early onset forms of NARP, but seizures seem to be rare in cases with adolescent and adult onset. We describe a patient who developed clumsiness and visual problems in her teens. She h...

Journal: :Human molecular genetics 2004
Marina Mattiazzi Chetan Vijayvergiya Carl D Gajewski Darryl C DeVivo Giorgio Lenaz Martin Wiedmann Giovanni Manfredi

A T8993G point mutation in the mtDNA results in a Leu156Arg substitution in the MTATP6 subunit of the mitochondrial F1F0-ATPase. The T8993G mutation causes impaired oxidative phosphorylation (OXPHOS) in two mitochondrial disorders, NARP (neuropathy, ataxia and retinitis pigmentosa) and MILS (maternally inherited Leigh's syndrome). It has been reported, in some studies, that the T8993G mutation ...

2013
Mark J. Rawle A.J. Larner

One member of a pedigree with NARP syndrome (neurogenic weakness, ataxia, and retinitis pigmentosa), a mitochondrial disorder due to a point mutation at position 8993 in the mitochondrial genome ATPase 6 gene, was reevaluated some 20 years after first being reported in the medical literature. Initially assessed at age 39 years, she had retinitis pigmentosa and a mild sensory axonal neuropathy, ...

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