All

What are you looking for?

All
Projects
Results
Organizations

Quick search

  • Projects supported by TA ČR
  • Excellent projects
  • Projects with the highest public support
  • Current projects

Smart search

  • That is how I find a specific +word
  • That is how I leave the -word out of the results
  • “That is how I can find the whole phrase”

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

  • Czech description

Classification

  • Type

    J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

  • CEP classification

    CE - Biochemistry

  • OECD FORD branch

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

  • 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