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

Result code in 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>

Alternative codes found

RIV/00064165:_____/11:9890

Result on the web

<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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Result language

angličtina

Original language name

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

Original language description

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

Czech name

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Czech description

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Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

EB - Genetics and molecular biology

OECD FORD branch

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Project

Result was created during the realization of more than one project. More information in the Projects tab.

Continuities

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

Publication year

2011

Confidentiality

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

Name of the periodical

Molecular Genetics and Metabolism

ISSN

1096-7192

e-ISSN

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Volume of the periodical

102

Issue of the periodical within the volume

1

Country of publishing house

US - UNITED STATES

Number of pages

8

Pages from-to

61-68

UT code for WoS article

000286363500012

EID of the result in the Scopus database

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