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  • 1
    Publication Date: 2014-02-01
    Description: Hereditary spastic paraplegias (HSPs) are neurodegenerative motor neuron diseases characterized by progressive age-dependent loss of corticospinal motor tract function. Although the genetic basis is partly understood, only a fraction of cases can receive a genetic diagnosis, and a global view of HSP is lacking. By using whole-exome sequencing in combination with network analysis, we identified 18 previously unknown putative HSP genes and validated nearly all of these genes functionally or genetically. The pathways highlighted by these mutations link HSP to cellular transport, nucleotide metabolism, and synapse and axon development. Network analysis revealed a host of further candidate genes, of which three were mutated in our cohort. Our analysis links HSP to other neurodegenerative disorders and can facilitate gene discovery and mechanistic understanding of disease.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4157572/" target="_blank"〉〈img src="https://static.pubmed.gov/portal/portal3rc.fcgi/4089621/img/3977009" border="0"〉〈/a〉   〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4157572/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Novarino, Gaia -- Fenstermaker, Ali G -- Zaki, Maha S -- Hofree, Matan -- Silhavy, Jennifer L -- Heiberg, Andrew D -- Abdellateef, Mostafa -- Rosti, Basak -- Scott, Eric -- Mansour, Lobna -- Masri, Amira -- Kayserili, Hulya -- Al-Aama, Jumana Y -- Abdel-Salam, Ghada M H -- Karminejad, Ariana -- Kara, Majdi -- Kara, Bulent -- Bozorgmehri, Bita -- Ben-Omran, Tawfeg -- Mojahedi, Faezeh -- Mahmoud, Iman Gamal El Din -- Bouslam, Naima -- Bouhouche, Ahmed -- Benomar, Ali -- Hanein, Sylvain -- Raymond, Laure -- Forlani, Sylvie -- Mascaro, Massimo -- Selim, Laila -- Shehata, Nabil -- Al-Allawi, Nasir -- Bindu, P S -- Azam, Matloob -- Gunel, Murat -- Caglayan, Ahmet -- Bilguvar, Kaya -- Tolun, Aslihan -- Issa, Mahmoud Y -- Schroth, Jana -- Spencer, Emily G -- Rosti, Rasim O -- Akizu, Naiara -- Vaux, Keith K -- Johansen, Anide -- Koh, Alice A -- Megahed, Hisham -- Durr, Alexandra -- Brice, Alexis -- Stevanin, Giovanni -- Gabriel, Stacy B -- Ideker, Trey -- Gleeson, Joseph G -- HHSN268200782096C/PHS HHS/ -- HHSN268201100011/PHS HHS/ -- N01-CO-12400/CO/NCI NIH HHS/ -- P01 HD070494/HD/NICHD NIH HHS/ -- P01HD070494/HD/NICHD NIH HHS/ -- P30NS047101/NS/NINDS NIH HHS/ -- R01NS041537/NS/NINDS NIH HHS/ -- R01NS048453/NS/NINDS NIH HHS/ -- R01NS052455/NS/NINDS NIH HHS/ -- U54 HG006504/HG/NHGRI NIH HHS/ -- U54HG003067/HG/NHGRI NIH HHS/ -- U54HG006504/HG/NHGRI NIH HHS/ -- Howard Hughes Medical Institute/ -- New York, N.Y. -- Science. 2014 Jan 31;343(6170):506-11. doi: 10.1126/science.1247363.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA 92093, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/24482476" target="_blank"〉PubMed〈/a〉
    Keywords: Animals ; Axons/physiology ; Biological Transport/genetics ; Cohort Studies ; Exome/*genetics ; Gene Regulatory Networks ; *Genetic Association Studies ; Humans ; Motor Neuron Disease/*genetics ; Mutation ; Neurons/*metabolism ; Nucleotides/genetics/metabolism ; Pyramidal Tracts/*metabolism ; Sequence Analysis, DNA ; Spastic Paraplegia, Hereditary/*genetics ; Synapses/physiology ; Transcriptome ; Zebrafish
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
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  • 2
    ISSN: 1550-7408
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Biology
    Notes: Fish parasites microsporidia are distributed among fifteen genera. In most cases, the infectious focus present a cyst-like structure. According to the stage of evolution, the infection focus is either a xenoma or a granuloma. Specific host-parasite interaction is at the origin of a large diversity of foci form and tissue specificity.In this context, we describe Microgemma tincae n. sp. in the peacock wrasse, Symphodus tinca, fished near the Tunisian coasts. M. tincae is found in the liver of its host. Parasite characterization is based on the ultrastructural description of the life cycle (Transmission Electronic Microscopy) as well as on a part of the rDNA sequence (840 bp of the ssu gene). The inflammatory reaction responsible for the transition from xenoma to granuloma is carefully described. Prevalence is high and small fishes present high level of infection (several foci). One of the parameters responsible for the distribution of the number of foci per fish is the ratio between secondary and new infection.We studied the Spraguea lophii infection to address this question at the molecular level in the angler fish, Lophius spp. We wanted to know if the reaction set up by the host was sufficient to stop the parasite propagation. The analysis was made in two-dimensional (2D) PFGE at an infection focus scale (1-mm3 samples). We compared 2D genome images from samples isolated from different parts of one or several infection foci of the same or different fish origin. We conclude that the fish immune system cannot avoid secondary infection.
    Type of Medium: Electronic Resource
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