Computational study of missense mutations in phenylalanine hydroxylase
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14740%2F15%3A00083364" target="_blank" >RIV/00216224:14740/15:00083364 - isvavai.cz</a>
Result on the web
<a href="http://download.springer.com/static/pdf/105/art%253A10.1007%252Fs00894-015-2620-6.pdf?originUrl=http%3A%2F%2Flink.springer.com%2Farticle%2F10.1007%2Fs00894-015-2620-6&token2=exp=1441358136~acl=%2Fstatic%2Fpdf%2F105%2Fart%25253A10.1007%25252Fs00894-015-26" target="_blank" >http://download.springer.com/static/pdf/105/art%253A10.1007%252Fs00894-015-2620-6.pdf?originUrl=http%3A%2F%2Flink.springer.com%2Farticle%2F10.1007%2Fs00894-015-2620-6&token2=exp=1441358136~acl=%2Fstatic%2Fpdf%2F105%2Fart%25253A10.1007%25252Fs00894-015-26</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1007/s00894-015-2620-6" target="_blank" >10.1007/s00894-015-2620-6</a>
Alternative languages
Result language
angličtina
Original language name
Computational study of missense mutations in phenylalanine hydroxylase
Original language description
Hyperphenylalaninemia (HPA) is one of the most common metabolic disorders. HPA, which is transmitted by an autosomal recessive mode of inheritance, is caused by mutations of the phenylalanine hydroxylase gene. Most mutations are missense and lead to reduced protein stability and/or impaired catalytic function. The impact of such mutations varies, ranging from classical phenylketonuria (PKU), mild PKU, to non-PKU HPA phenotypes. Despite the fact that HPA is a monogenic disease, clinical data show that one PKU genotype can be associated with more in vivo phenotypes, which indicates the role of other (still unknown) factors. To better understand the phenotype?genotype relationships, we analyzed computationally the impact of missense mutations in homozygotes stored in the BIOPKU database.
Czech name
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Czech description
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Classification
Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
CE - Biochemistry
OECD FORD branch
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Result continuities
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)
Others
Publication year
2015
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Journal of Molecular Modeling
ISSN
1610-2940
e-ISSN
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Volume of the periodical
21
Issue of the periodical within the volume
4
Country of publishing house
US - UNITED STATES
Number of pages
10
Pages from-to
"nestránkováno"
UT code for WoS article
000351477800004
EID of the result in the Scopus database
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