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  1. Article ; Online: Generation of two iPSC lines derived from two unrelated patients with Gaucher disease.

    Nagel, Maike / Reichbauer, Jennifer / Böhringer, Judith / Schelling, Yvonne / Krägeloh-Mann, Inge / Schüle, Rebecca / Ulmer, Ulrike

    Stem cell research

    2018  Volume 35, Page(s) 101336

    Abstract: Gaucher disease is the most common autosomal recessive lysosomal storage disorder, caused by mutations in the β-glucocerebrosidase gene GBA. Here we describe generation of iPSC from skin-derived fibroblasts from two unrelated individuals with ... ...

    Abstract Gaucher disease is the most common autosomal recessive lysosomal storage disorder, caused by mutations in the β-glucocerebrosidase gene GBA. Here we describe generation of iPSC from skin-derived fibroblasts from two unrelated individuals with neuronopathic forms of Gaucher disease. The donor for line iPSC-GBA-1, a 21 month old girl, carried the recurring GBA mutation c.1448 T > C, p.Leu483Pro at homozygous state; fibroblasts for line iPS-GBA-2 were obtained from a 4 year old girl compound heterozygous for the GBA mutations c.667 T > C, p.Trp223Arg and c.1226A > G, p.Asn409Ser. iPSCs were developed using integration free episomal vectors (OCT4, KLF4; L-MYC, SOX2 (OSKM) and LIN28). Resource table.
    MeSH term(s) Alleles ; Cell Line ; Child, Preschool ; Female ; Gaucher Disease/genetics ; Gaucher Disease/metabolism ; Gaucher Disease/pathology ; Glucosylceramidase/metabolism ; Homozygote ; Humans ; Induced Pluripotent Stem Cells/metabolism ; Induced Pluripotent Stem Cells/pathology ; Infant ; Mutation
    Chemical Substances Glucosylceramidase (EC 3.2.1.45)
    Language English
    Publishing date 2018-11-18
    Publishing country England
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ISSN 1876-7753
    ISSN (online) 1876-7753
    DOI 10.1016/j.scr.2018.10.021
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia.

    Wagner, Matias / Osborn, Daniel P S / Gehweiler, Ina / Nagel, Maike / Ulmer, Ulrike / Bakhtiari, Somayeh / Amouri, Rim / Boostani, Reza / Hentati, Faycal / Hockley, Maryam M / Hölbling, Benedikt / Schwarzmayr, Thomas / Karimiani, Ehsan Ghayoor / Kernstock, Christoph / Maroofian, Reza / Müller-Felber, Wolfgang / Ozkan, Ege / Padilla-Lopez, Sergio / Reich, Selina /
    Reichbauer, Jennifer / Darvish, Hossein / Shahmohammadibeni, Neda / Tafakhori, Abbas / Vill, Katharina / Zuchner, Stephan / Kruer, Michael C / Winkelmann, Juliane / Jamshidi, Yalda / Schüle, Rebecca

    Nature communications

    2019  Volume 10, Issue 1, Page(s) 4790

    Abstract: Alterations of ... ...

    Abstract Alterations of Ca
    MeSH term(s) Adolescent ; Adult ; Animals ; Calcium/metabolism ; Cell Line, Tumor ; Child ; Child, Preschool ; Endoplasmic Reticulum/metabolism ; Endoplasmic Reticulum-Associated Degradation/genetics ; Female ; Fibroblasts/metabolism ; Gene Knockdown Techniques ; High-Throughput Nucleotide Sequencing ; Humans ; Inositol 1,4,5-Trisphosphate/metabolism ; Inositol 1,4,5-Trisphosphate Receptors/metabolism ; Male ; Middle Aged ; Neurons/metabolism ; Primary Cell Culture ; Signal Transduction ; Skin/cytology ; Spastic Paraplegia, Hereditary/genetics ; Spastic Paraplegia, Hereditary/metabolism ; Ubiquitin-Protein Ligases/genetics ; Zebrafish
    Chemical Substances Inositol 1,4,5-Trisphosphate Receptors ; Inositol 1,4,5-Trisphosphate (85166-31-0) ; RNF170 protein, human (EC 2.3.2.27) ; Ubiquitin-Protein Ligases (EC 2.3.2.27) ; Calcium (SY7Q814VUP)
    Language English
    Publishing date 2019-10-21
    Publishing country England
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 2553671-0
    ISSN 2041-1723 ; 2041-1723
    ISSN (online) 2041-1723
    ISSN 2041-1723
    DOI 10.1038/s41467-019-12620-9
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

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