Molecular characterization of the AdeI mutant of Chinese hamster ovary cells: A cellular model of adenylosuccinate lyase deficiency

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F11%3A9890" target="_blank" >RIV/00216208:11110/11:9890 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00064165:_____/11:9890

Výsledek na webu

<a href="http://dx.doi.org/10.1016/j.ymgme.2010.08.022" target="_blank" >http://dx.doi.org/10.1016/j.ymgme.2010.08.022</a>

DOI - Digital Object Identifier

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Jazyk výsledku

angličtina

Název v původním jazyce

Molecular characterization of the AdeI mutant of Chinese hamster ovary cells: A cellular model of adenylosuccinate lyase deficiency

Popis výsledku v původním jazyce

Adenylosuccinate lyase carries out two non-sequential steps in de novo AMP synthesis. Mutations in ADSL lead to an inborn error of metabolism originally characterized by developmental delay. There is no effective treatment for ADSL deficiency. One important approach to understand ADSL deficiency is to develop cell culture models that allow investigation of the properties of ADSL mutants and the consequences of ADSL deficiency at the cellular level. We previously reported the isolation and initial characterization of mutants of Chinese hamster ovary (CHO-K1) cells (AdeI) that lack detectable ADSL activity, accumulate ADSL substrates, and require adenine for growth. Here we report the cDNA sequences of ADSL from CHO-K1 and AdeI cells and describe a mutation resulting in an alanine to valine amino acid substitution at position 291 (A291V) in AdeI ADSL. This substitution lies in the ?signature sequence? of ADSL, inactivates the enzyme, and validates AdeI as a cellular model of ADSL deficie

Název v anglickém jazyce

Molecular characterization of the AdeI mutant of Chinese hamster ovary cells: A cellular model of adenylosuccinate lyase deficiency

Popis výsledku anglicky

Adenylosuccinate lyase carries out two non-sequential steps in de novo AMP synthesis. Mutations in ADSL lead to an inborn error of metabolism originally characterized by developmental delay. There is no effective treatment for ADSL deficiency. One important approach to understand ADSL deficiency is to develop cell culture models that allow investigation of the properties of ADSL mutants and the consequences of ADSL deficiency at the cellular level. We previously reported the isolation and initial characterization of mutants of Chinese hamster ovary (CHO-K1) cells (AdeI) that lack detectable ADSL activity, accumulate ADSL substrates, and require adenine for growth. Here we report the cDNA sequences of ADSL from CHO-K1 and AdeI cells and describe a mutation resulting in an alanine to valine amino acid substitution at position 291 (A291V) in AdeI ADSL. This substitution lies in the ?signature sequence? of ADSL, inactivates the enzyme, and validates AdeI as a cellular model of ADSL deficie

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

EB - Genetika a molekulární biologie

OECD FORD obor

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Projekt

Výsledek vznikl pri realizaci vícero projektů. Více informací v záložce Projekty.

Návaznosti

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)<br>Z - Vyzkumny zamer (s odkazem do CEZ)

Rok uplatnění

2011

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Molecular Genetics and Metabolism

ISSN

1096-7192

e-ISSN

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Svazek periodika

102

Číslo periodika v rámci svazku

1

Stát vydavatele periodika

US - Spojené státy americké

Počet stran výsledku

8

Strana od-do

61-68

Kód UT WoS článku

000286363500012

EID výsledku v databázi Scopus

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