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  1. Book ; Online ; Thesis: <dc:title>Mutations in TBC1D8B affect Rab11-activity and cause nephrotic syndrome</dc:title>

    Kampf, Lina L. [Verfasser] / Hermle, Tobias Franz [Akademischer Betreuer] / Walz, Gerd [Akademischer Betreuer] / Walz, Gerd [Sonstige] / Simons, Matias [Sonstige]

    2023  

    Keywords Medizin, Gesundheit ; Medicine, Health
    Subject code sg610
    Language English
    Publisher Universität
    Publishing place Freiburg
    Document type Book ; Online ; Thesis
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  2. Article ; Online: Inhibition of endoplasmic reticulum stress signaling rescues cytotoxicity of human apolipoprotein-L1 risk variants in Drosophila.

    Gerstner, Lea / Chen, Mengmeng / Kampf, Lina L / Milosavljevic, Julian / Lang, Konrad / Schneider, Ronen / Hildebrandt, Friedhelm / Helmstädter, Martin / Walz, Gerd / Hermle, Tobias

    Kidney international

    2022  Volume 101, Issue 6, Page(s) 1216–1231

    Abstract: Risk variants of the apolipoprotein-L1 (APOL1) gene are associated with severe kidney disease, putting homozygous carriers at risk. Since APOL1 lacks orthologs in all major model organisms, a wide range of mechanisms frequently in conflict have been ... ...

    Abstract Risk variants of the apolipoprotein-L1 (APOL1) gene are associated with severe kidney disease, putting homozygous carriers at risk. Since APOL1 lacks orthologs in all major model organisms, a wide range of mechanisms frequently in conflict have been described for APOL1-associated nephropathies. The genetic toolkit in Drosophila allows unique in vivo insights into disrupted cellular homeostasis. To perform a mechanistic analysis, we expressed human APOL1 control and gain-of-function kidney risk variants in the podocyte-like garland cells of Drosophila nephrocytes and a wing precursor tissue. Expression of APOL1 risk variants was found to elevate endocytic function of garland cell nephrocytes that simultaneously showed early signs of cell death. Wild-type APOL1 had a significantly milder effect, while a control transgene with deletion of the short BH3 domain showed no overt phenotype. Nephrocyte endo-lysosomal function and slit diaphragm architecture remained unaffected by APOL1 risk variants, but endoplasmic reticulum (ER) swelling, chaperone induction, and expression of the reporter Xbp1-EGFP suggested an ER stress response. Pharmacological inhibition of ER stress diminished APOL1-mediated cell death and direct ER stress induction enhanced nephrocyte endocytic function similar to expression of APOL1 risk variants. We confirmed APOL1-dependent ER stress in the Drosophila wing precursor where silencing the IRE1-dependent branch of ER stress signaling by inhibition with Xbp1-RNAi abrogated cell death, representing the first rescue of APOL1-associated cytotoxicity in vivo. Thus, we uncovered ER stress as an essential consequence of APOL1 risk variant expression in vivo in Drosophila, suggesting a central role of this pathway in the pathogenesis of APOL1-associated nephropathies.
    MeSH term(s) Animals ; Apolipoprotein L1/genetics ; Drosophila/genetics ; Endoplasmic Reticulum Stress/genetics ; Humans ; Kidney Diseases/pathology ; Podocytes/pathology
    Chemical Substances APOL1 protein, human ; Apolipoprotein L1
    Language English
    Publishing date 2022-02-01
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 120573-0
    ISSN 1523-1755 ; 0085-2538
    ISSN (online) 1523-1755
    ISSN 0085-2538
    DOI 10.1016/j.kint.2021.12.031
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

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  3. Article ; Online: Nephrotic Syndrome Gene

    Milosavljevic, Julian / Lempicki, Camille / Lang, Konrad / Heinkele, Helena / Kampf, Lina L / Leroy, Claire / Chen, Mengmeng / Gerstner, Lea / Spitz, Dominik / Wang, Minxian / Knob, Andrea U / Kayser, Séverine / Helmstädter, Martin / Walz, Gerd / Pollak, Martin R / Hermle, Tobias

    Journal of the American Society of Nephrology : JASN

    2022  Volume 33, Issue 12, Page(s) 2174–2193

    Abstract: Background: Variants in : Methods: We generated a stable deletion in : Results: A null allele of : Conclusions: Variants ... ...

    Abstract Background: Variants in
    Methods: We generated a stable deletion in
    Results: A null allele of
    Conclusions: Variants in
    MeSH term(s) Mice ; Animals ; Nephrotic Syndrome/genetics ; Nephrotic Syndrome/metabolism ; Drosophila ; Glomerulosclerosis, Focal Segmental/metabolism ; Membrane Proteins/genetics ; Membrane Proteins/metabolism ; Podocytes/metabolism ; Endocytosis ; Endosomes/metabolism
    Chemical Substances nephrin ; Membrane Proteins
    Language English
    Publishing date 2022-09-22
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1085942-1
    ISSN 1533-3450 ; 1046-6673
    ISSN (online) 1533-3450
    ISSN 1046-6673
    DOI 10.1681/ASN.2022030275
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 3344: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (2.OG)
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  4. Article ; Online: TBC1D8B

    Kampf, Lina L / Schneider, Ronen / Gerstner, Lea / Thünauer, Roland / Chen, Mengmeng / Helmstädter, Martin / Amar, Ali / Onuchic-Whitford, Ana C / Loza Munarriz, Reyner / Berdeli, Afig / Müller, Dominik / Schrezenmeier, Eva / Budde, Klemens / Mane, Shrikant / Laricchia, Kristen M / Rehm, Heidi L / MacArthur, Daniel G / Lifton, Richard P / Walz, Gerd /
    Römer, Winfried / Bergmann, Carsten / Hildebrandt, Friedhelm / Hermle, Tobias

    Journal of the American Society of Nephrology : JASN

    2019  Volume 30, Issue 12, Page(s) 2338–2353

    Abstract: Background: Mutations in about 50 genes have been identified as monogenic causes of nephrotic syndrome, a frequent cause of CKD. These genes delineated the pathogenetic pathways and rendered significant insight into podocyte biology.: Methods: We ... ...

    Abstract Background: Mutations in about 50 genes have been identified as monogenic causes of nephrotic syndrome, a frequent cause of CKD. These genes delineated the pathogenetic pathways and rendered significant insight into podocyte biology.
    Methods: We used whole-exome sequencing to identify novel monogenic causes of steroid-resistant nephrotic syndrome (SRNS). We analyzed the functional significance of an SRNS-associated gene
    Results: We identified hemizygous missense mutations in the gene
    Conclusions: Novel mutations in
    MeSH term(s) Animals ; Autophagy ; Calcium-Binding Proteins/genetics ; Cell Line, Transformed ; Dogs ; Drosophila Proteins/metabolism ; Drosophila melanogaster/metabolism ; Exocytosis ; Gene Silencing ; HEK293 Cells ; Humans ; Immunoglobulins/metabolism ; Madin Darby Canine Kidney Cells ; Membrane Proteins/metabolism ; Mutation, Missense ; Nephrotic Syndrome/genetics ; Nephrotic Syndrome/metabolism ; Phenotype ; Podocytes/metabolism ; Protein Interaction Mapping ; RNA Interference ; RNA, Small Interfering/pharmacology ; Transport Vesicles/physiology ; Vesicular Transport Proteins/genetics ; Whole Exome Sequencing ; rab GTP-Binding Proteins/metabolism
    Chemical Substances Calcium-Binding Proteins ; Drosophila Proteins ; Immunoglobulins ; Membrane Proteins ; RNA, Small Interfering ; SNS protein, Drosophila ; TBC1D8B protein, human ; Vesicular Transport Proteins ; nephrin ; rab11 protein (EC 3.6.1.-) ; rab GTP-Binding Proteins (EC 3.6.5.2)
    Language English
    Publishing date 2019-11-15
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 1085942-1
    ISSN 1533-3450 ; 1046-6673
    ISSN (online) 1533-3450
    ISSN 1046-6673
    DOI 10.1681/ASN.2019040414
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 3344: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (2.OG)
    ab Jg. 2022: Lesesaal (EG)

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