Forskning
Udskriv Udskriv
Switch language
Region Hovedstaden - en del af Københavns Universitetshospital
Udgivet

Normal RNAi response in human fragile x fibroblasts

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

DOI

  1. Risk factors for development of nephropathy in patients with a diabetic Charcot foot

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Stroke secondary prevention, a non-surgical and non-pharmacological consensus definition: results of a Delphi study

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Danish doctors' reactions to 'internationalization' in clinical training in a public university hospital

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  1. Genetic disease is a common cause of bilateral childhood cataract in Denmark

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Causes of poor eye contact in infants: a population-based study.

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Clinical utility gene card for oculocutaneous (OCA) and ocular albinism (OA)-an update

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  4. Genotype-phenotype associations in Danish patients with ocular and oculocutaneous albinism

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  5. The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Vis graf over relationer

BACKGROUND: Fragile x syndrome is caused by loss of expression of the FMRP protein involved in the control of a large number of mRNA targets. The Drosophila ortholog dFXR interacts with a protein complex that includes Argonaute2, an essential component of the RNA-induced silencing complex (RISC). Furthermore dFXR associates with Dicer, another essential processing enzyme of the RNAi pathway. Both microRNA and microRNA precursors can co-immunoprecipitate with dFXR. Consequently it has been suggested that the Fragile x syndrome may be due to a defect in an RNAi-related apparatus.

FINDINGS: We have investigated the RNAi response in Fragile x patient cells lacking FMRP compared with normal controls. RNAi responses were successfully detected, but no statistically significant difference between the response in normal cells compared to patients cells was found - neither one nor two days after transfection.

CONCLUSION: Our data show that in human fibroblasts from Fragile x patients lacking FMRP the RNAi response is not significantly impaired.

OriginalsprogEngelsk
TidsskriftBMC Research Notes
Vol/bind2
Sider (fra-til)177
ISSN1756-0500
DOI
StatusUdgivet - 9 sep. 2009

ID: 61629773