ALBERT

All Library Books, journals and Electronic Records Telegrafenberg

X
feed icon rss

Your email was sent successfully. Check your inbox.

An error occurred while sending the email. Please try again.

Proceed reservation?

Export
  • 1
    facet.materialart.
    Unknown
    Truncating neurotrypsin mutation in autosomal recessive nonsyndromic mental retardation (2002)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2002-12-03
    Description: A 4-base pair deletion in the neuronal serine protease neurotrypsin gene was associated with autosomal recessive nonsyndromic mental retardation (MR). In situ hybridization experiments on human fetal brains showed that neurotrypsin was highly expressed in brain structures involved in learning and memory. Immuno-electron microscopy on adult human brain sections revealed that neurotrypsin is located in presynaptic nerve endings, particularly over the presynaptic membrane lining the synaptic cleft. These findings suggest that neurotrypsin-mediated proteolysis is required for normal synaptic function and suggest potential insights into the pathophysiological bases of mental retardation.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Molinari, Florence -- Rio, Marlene -- Meskenaite, Virginia -- Encha-Razavi, Ferechte -- Auge, Joelle -- Bacq, Delphine -- Briault, Sylvain -- Vekemans, Michel -- Munnich, Arnold -- Attie-Bitach, Tania -- Sonderegger, Peter -- Colleaux, Laurence -- New York, N.Y. -- Science. 2002 Nov 29;298(5599):1779-81.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Unite de Recherches sur les Handicaps Genetiques de l'Enfant, INSERM U-393, et Departement de Genetique, Hopital Necker-Enfants Malades, Paris, France.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/12459588" target="_blank"〉PubMed〈/a〉
    Keywords: Adolescent ; Adult ; Brain/embryology/*metabolism ; Female ; Fetus/metabolism ; Gene Expression ; Genes, Recessive ; Humans ; Immunohistochemistry ; Intellectual Disability/*genetics/metabolism ; Male ; Microsatellite Repeats ; Microscopy, Immunoelectron ; Pedigree ; *Sequence Deletion ; Serine Endopeptidases/chemistry/*genetics/metabolism ; Spinal Cord/embryology/metabolism ; Synapses/*metabolism/ultrastructure ; Synaptic Membranes/metabolism
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
    Published by American Association for the Advancement of Science (AAAS)
    Location Call Number Expected Availability
    BibTip Others were also interested in ...
    PAPER CURRENT
  • 2
    facet.materialart.
    Unknown
    MED23 mutation links intellectual disability to dysregulation of immediate early gene expression (2011)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2011-08-27
    Description: MED23 is a subunit of the Mediator complex, a key regulator of protein-coding gene expression. Here, we report a missense mutation (p. R617Q) in MED23 that cosegregates with nonsyndromic autosomal recessive intellectual disability. This mutation specifically impaired the response of JUN and FOS immediate early genes (IEGs) to serum mitogens by altering the interaction between enhancer-bound transcription factors (TCF4 and ELK1, respectively) and Mediator. Transcriptional dysregulation of these genes was also observed in cells derived from patients presenting with other neurological disorders linked to mutations in other Mediator subunits or proteins interacting with MED. These findings highlight the crucial role of Mediator in brain development and functioning and suggest that altered IEG expression might be a common molecular hallmark of cognitive deficit.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Hashimoto, Satoru -- Boissel, Sarah -- Zarhrate, Mohammed -- Rio, Marlene -- Munnich, Arnold -- Egly, Jean-Marc -- Colleaux, Laurence -- New York, N.Y. -- Science. 2011 Aug 26;333(6046):1161-3. doi: 10.1126/science.1206638.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Institut de Genetique et de Biologie Moleculaire et Cellulaire, CNRS/INSERM/Universite de Strasbourg, BP 163, 67404 Illkirch Cedex, C. U. Strasbourg, France.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/21868677" target="_blank"〉PubMed〈/a〉
    Keywords: Basic Helix-Loop-Helix Leucine Zipper Transcription Factors/metabolism ; Cells, Cultured ; Chromatin Immunoprecipitation ; Early Growth Response Protein 1/genetics ; Female ; *Gene Expression Regulation ; *Genes, Immediate-Early ; Genes, fos ; Genes, jun ; Histones/metabolism ; Humans ; Intellectual Disability/*genetics ; Male ; Mediator Complex/*genetics ; *Mutation, Missense ; Pedigree ; Promoter Regions, Genetic ; Transcription Factors/metabolism ; Transcriptional Activation ; ets-Domain Protein Elk-1/metabolism
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
    Published by American Association for the Advancement of Science (AAAS)
    Location Call Number Expected Availability
    BibTip Others were also interested in ...
    PAPER CURRENT
Close ⊗
This website uses cookies and the analysis tool Matomo. More information can be found here...