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  1. Article ; Online: The road to lysosome-related organelles: Insights from Hermansky-Pudlak syndrome and other rare diseases.

    Bowman, Shanna L / Bi-Karchin, Jing / Le, Linh / Marks, Michael S

    Traffic (Copenhagen, Denmark)

    2019  Volume 20, Issue 6, Page(s) 404–435

    Abstract: Lysosome-related organelles (LROs) comprise a diverse group of cell type-specific, membrane-bound subcellular organelles that derive at least in part from the endolysosomal system but that have unique contents, morphologies and functions to support ... ...

    Abstract Lysosome-related organelles (LROs) comprise a diverse group of cell type-specific, membrane-bound subcellular organelles that derive at least in part from the endolysosomal system but that have unique contents, morphologies and functions to support specific physiological roles. They include: melanosomes that provide pigment to our eyes and skin; alpha and dense granules in platelets, and lytic granules in cytotoxic T cells and natural killer cells, which release effectors to regulate hemostasis and immunity; and distinct classes of lamellar bodies in lung epithelial cells and keratinocytes that support lung plasticity and skin lubrication. The formation, maturation and/or secretion of subsets of LROs are dysfunctional or entirely absent in a number of hereditary syndromic disorders, including in particular the Hermansky-Pudlak syndromes. This review provides a comprehensive overview of LROs in humans and model organisms and presents our current understanding of how the products of genes that are defective in heritable diseases impact their formation, motility and ultimate secretion.
    MeSH term(s) Animals ; Hermanski-Pudlak Syndrome/metabolism ; Hermanski-Pudlak Syndrome/pathology ; Humans ; Lysosomes/metabolism ; Lysosomes/ultrastructure ; Melanosomes/metabolism ; Melanosomes/ultrastructure ; Weibel-Palade Bodies/metabolism ; Weibel-Palade Bodies/ultrastructure
    Language English
    Publishing date 2019-08-14
    Publishing country England
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Review
    ZDB-ID 1483852-7
    ISSN 1600-0854 ; 1398-9219
    ISSN (online) 1600-0854
    ISSN 1398-9219
    DOI 10.1111/tra.12646
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 5634: Show issues Location:
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  2. Article ; Online: Surgeon, and Institution Characteristics Associated Surgical Preferences in the Pediatric KIDney Stone Care Improvement Network.

    Fernandez, Nicolas / Ellison, Jonathan S / Wang, Zi / Huang, Jing / Chu, David I / Sturm, Renea / Stec, Andrew A / Hsi, Ryan S / Wu, Wayland / Nelson, Caleb / Ching, Christina / Augelli, Brian / Lorenzo, Matt / Bi-Karchin, Jing / Tasian, Gregory E

    Urology

    2024  

    Abstract: Objective: To reveal barriers and opportunities to implement evidence for the management of pediatric kidney stone disease, we determined surgeon and institutional factors associated with preferences for the type of surgical intervention for kidney and ... ...

    Abstract Objective: To reveal barriers and opportunities to implement evidence for the management of pediatric kidney stone disease, we determined surgeon and institutional factors associated with preferences for the type of surgical intervention for kidney and ureteral stones.
    Methods: We conducted a cross-sectional study of urologists participating in the Pediatric KIDney Stone Care Improvement Network (PKIDS) trial. Questionnaires ascertained strengths of urologists' preferences for types of surgery as well as characteristics of participating urologists and institutions. The outcome was the strength of preferences for ureteroscopy, shockwave lithotripsy, and percutaneous nephrolithotomy for four scenarios for which two alternative procedures are recommended by the AUA guidelines: (1) 2 cm kidney stone, (2) 9 mm proximal ureteral stone, (3) 1.5 cm lower pole kidney stone, (4) 1 cm nonlower pole kidney stone. Principal component analysis was performed to identify unique clusters of factors that explain surgical preferences.
    Results: One hundred forty-eight urologists at 29 sites completed surveys. Stated preferences were highly skewed except for the choice between ureteroscopy and percutaneous nephrolithotomy for a 1.5 cm kidney stone. Shockwave lithotripsy ownership and local practice patterns most frequently associated with the strength of surgeons' preferences for the type of surgery. Principal component analysis revealed that three clusters of stone, patient, and heterogenous characteristics explained 30% of the variance in preferences.
    Conclusion: There is wide variation in the strengths of preferences for surgical interventions supported by current guidelines that are partially explained by surgeon and institutional characteristics. These results reveal opportunities to develop strategies for guidelines that consider real-world drivers of care.
    Language English
    Publishing date 2024-03-06
    Publishing country United States
    Document type Journal Article
    ZDB-ID 192062-5
    ISSN 1527-9995 ; 0090-4295
    ISSN (online) 1527-9995
    ISSN 0090-4295
    DOI 10.1016/j.urology.2024.02.040
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 1142: Show issues Location:
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    Zs.MO 275: Show issues

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  3. Article ; Online: Phosphatidylinositol-4-kinase IIα licenses phagosomes for TLR4 signaling and MHC-II presentation in dendritic cells.

    López-Haber, Cynthia / Levin-Konigsberg, Roni / Zhu, Yueyao / Bi-Karchin, Jing / Balla, Tamas / Grinstein, Sergio / Marks, Michael S / Mantegazza, Adriana R

    Proceedings of the National Academy of Sciences of the United States of America

    2020  Volume 117, Issue 45, Page(s) 28251–28262

    Abstract: Toll-like receptor (TLR) recruitment to phagosomes in dendritic cells (DCs) and downstream TLR signaling are essential to initiate antimicrobial immune responses. However, the mechanisms underlying TLR localization to phagosomes are poorly characterized. ...

    Abstract Toll-like receptor (TLR) recruitment to phagosomes in dendritic cells (DCs) and downstream TLR signaling are essential to initiate antimicrobial immune responses. However, the mechanisms underlying TLR localization to phagosomes are poorly characterized. We show herein that phosphatidylinositol-4-kinase IIα (PI4KIIα) plays a key role in initiating phagosomal TLR4 responses in murine DCs by generating a phosphatidylinositol-4-phosphate (PtdIns4P) platform conducive to the binding of the TLR sorting adaptor Toll-IL1 receptor (TIR) domain-containing adaptor protein (TIRAP). PI4KIIα is recruited to maturing lipopolysaccharide (LPS)-containing phagosomes in an adaptor protein-3 (AP-3)-dependent manner, and both PI4KIIα and PtdIns4P are detected on phagosomal membrane tubules. Knockdown of PI4KIIα-but not the related PI4KIIβ-impairs TIRAP and TLR4 localization to phagosomes, reduces proinflammatory cytokine secretion, abolishes phagosomal tubule formation, and impairs major histocompatibility complex II (MHC-II) presentation. Phagosomal TLR responses in PI4KIIα-deficient DCs are restored by reexpression of wild-type PI4KIIα, but not of variants lacking kinase activity or AP-3 binding. Our data indicate that PI4KIIα is an essential regulator of phagosomal TLR signaling in DCs by ensuring optimal TIRAP recruitment to phagosomes.
    MeSH term(s) 1-Phosphatidylinositol 4-Kinase/metabolism ; Animals ; Bone Marrow Cells ; Cytokines/metabolism ; Dendritic Cells/immunology ; Lipopolysaccharides ; Major Histocompatibility Complex/physiology ; Mice ; Phagosomes/metabolism ; Signal Transduction ; Toll-Like Receptor 4/genetics ; Toll-Like Receptor 4/metabolism ; Toll-Like Receptors/metabolism
    Chemical Substances Cytokines ; Lipopolysaccharides ; Tlr4 protein, mouse ; Toll-Like Receptor 4 ; Toll-Like Receptors ; 1-Phosphatidylinositol 4-Kinase (EC 2.7.1.67)
    Language English
    Publishing date 2020-10-27
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, N.I.H., Intramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 209104-5
    ISSN 1091-6490 ; 0027-8424
    ISSN (online) 1091-6490
    ISSN 0027-8424
    DOI 10.1073/pnas.2001948117
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 1148: Show issues Location:
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  4. Article ; Online: Steroid-Resistant Nephrotic Syndrome-Associated

    Liu, Pei-Ju / Gunther, Laura K / Garone, Michael E / Zhang, Chunling / Perez, Diana / Bi-Karchin, Jing / Pellenz, Christopher D / Chase, Sharon E / Presti, Maria F / Plante, Eric L / Martin, Claire E / Lovric, Svjetlana / Yengo, Christopher M / Hildebrandt, Friedhelm / Krendel, Mira

    Journal of the American Society of Nephrology : JASN

    2022  Volume 33, Issue 11, Page(s) 1989–2007

    Abstract: Background: Myo1e is a nonmuscle motor protein enriched in podocytes. Mutations in : Methods: EGFP-tagged human : Results: Both mutants were expressed as full-length proteins in the Myo1e-KO cells. However, unlike wild-type (WT) Myo1e, the T119I ... ...

    Abstract Background: Myo1e is a nonmuscle motor protein enriched in podocytes. Mutations in
    Methods: EGFP-tagged human
    Results: Both mutants were expressed as full-length proteins in the Myo1e-KO cells. However, unlike wild-type (WT) Myo1e, the T119I variant was not enriched at the cell junctions or clathrin-coated vesicles (CCVs). In contrast, D388H variant localization was similar to that of WT. The rate of dissociation of the D388H variant from cell-cell junctions and CCVs was decreased, suggesting this mutation affects Myo1e interactions with binding partners. ATPase activity and ability to translocate actin filaments were drastically reduced for the D388H mutant, supporting findings from cell-based experiments.
    Conclusions: T119I and D388H mutations are deleterious to Myo1e functions. The experimental approaches used in this study can be applied to future characterization of novel
    MeSH term(s) Animals ; Humans ; Mice ; Mutation ; Myosin Type I/genetics ; Myosin Type I/metabolism ; Nephrotic Syndrome/genetics ; Steroids
    Chemical Substances Myosin Type I (EC 3.6.1.-) ; Steroids ; MYO1E protein, human (EC 3.6.1.-)
    Language English
    Publishing date 2022-09-09
    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.2021111505
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 3344: Show issues Location:
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  5. Article ; Online: Transgenic expression of human APOL1 risk variants in podocytes induces kidney disease in mice.

    Beckerman, Pazit / Bi-Karchin, Jing / Park, Ae Seo Deok / Qiu, Chengxiang / Dummer, Patrick D / Soomro, Irfana / Boustany-Kari, Carine M / Pullen, Steven S / Miner, Jeffrey H / Hu, Chien-An A / Rohacs, Tibor / Inoue, Kazunori / Ishibe, Shuta / Saleem, Moin A / Palmer, Matthew B / Cuervo, Ana Maria / Kopp, Jeffrey B / Susztak, Katalin

    Nature medicine

    2017  Volume 23, Issue 4, Page(s) 429–438

    Abstract: African Americans have a heightened risk of developing chronic and end-stage kidney disease, an association that is largely attributed to two common genetic variants, termed G1 and G2, in the APOL1 gene. Direct evidence demonstrating that these APOL1 ... ...

    Abstract African Americans have a heightened risk of developing chronic and end-stage kidney disease, an association that is largely attributed to two common genetic variants, termed G1 and G2, in the APOL1 gene. Direct evidence demonstrating that these APOL1 risk alleles are pathogenic is still lacking because the APOL1 gene is present in only some primates and humans; thus it has been challenging to demonstrate experimental proof of causality of these risk alleles for renal disease. Here we generated mice with podocyte-specific inducible expression of the APOL1 reference allele (termed G0) or each of the risk-conferring alleles (G1 or G2). We show that mice with podocyte-specific expression of either APOL1 risk allele, but not of the G0 allele, develop functional (albuminuria and azotemia), structural (foot-process effacement and glomerulosclerosis) and molecular (gene-expression) changes that closely resemble human kidney disease. Disease development was cell-type specific and likely reversible, and the severity correlated with the level of expression of the risk allele. We further found that expression of the risk-variant APOL1 alleles interferes with endosomal trafficking and blocks autophagic flux, which ultimately leads to inflammatory-mediated podocyte death and glomerular scarring. In summary, this is the first demonstration that the expression of APOL1 risk alleles is causal for altered podocyte function and glomerular disease in vivo.
    MeSH term(s) Albuminuria/genetics ; Alleles ; Animals ; Apolipoprotein L1 ; Apolipoproteins/genetics ; Autophagy/genetics ; Azotemia/genetics ; Blotting, Western ; Endocytosis/genetics ; Endosomes/metabolism ; Fluorescent Antibody Technique ; Genetic Predisposition to Disease ; Genetic Variation ; Glomerulosclerosis, Focal Segmental/genetics ; Glomerulosclerosis, Focal Segmental/pathology ; HEK293 Cells ; HeLa Cells ; Humans ; Immunohistochemistry ; In Situ Nick-End Labeling ; Kidney Glomerulus/metabolism ; Kidney Glomerulus/pathology ; Kidney Glomerulus/ultrastructure ; Lipoproteins, HDL/genetics ; Mice ; Mice, Transgenic ; Microscopy, Electron ; Podocytes/metabolism ; Podocytes/ultrastructure ; Renal Insufficiency, Chronic/genetics ; Renal Insufficiency, Chronic/pathology
    Chemical Substances APOL1 protein, human ; Apolipoprotein L1 ; Apolipoproteins ; Lipoproteins, HDL
    Language English
    Publishing date 2017-02-20
    Publishing country United States
    Document type Journal Article
    ZDB-ID 1220066-9
    ISSN 1546-170X ; 1078-8956
    ISSN (online) 1546-170X
    ISSN 1078-8956
    DOI 10.1038/nm.4287
    Database MEDical Literature Analysis and Retrieval System OnLINE

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