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Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency. 2017
Svjetlana Lovric, and
Sara Goncalves, and
Heon Yung Gee, and
Babak Oskouian, and
Honnappa Srinivas, and
Won-Il Choi, and
Shirlee Shril, and
Shazia Ashraf, and
Weizhen Tan, and
Jia Rao, and
Merlin Airik, and
David Schapiro, and
Daniela A Braun, and
Carolin E Sadowski, and
Eugen Widmeier, and
Tilman Jobst-Schwan, and
Johanna Magdalena Schmidt, and
Vladimir Girik, and
Guido Capitani, and
Jung H Suh, and
Noëlle Lachaussée, and
Christelle Arrondel, and
Julie Patat, and
Olivier Gribouval, and
Monica Furlano, and
Olivia Boyer, and
Alain Schmitt, and
Vincent Vuiblet, and
Seema Hashmi, and
Rainer Wilcken, and
Francois P Bernier, and
A Micheil Innes, and
Jillian S Parboosingh, and
Ryan E Lamont, and
Julian P Midgley, and
Nicola Wright, and
Jacek Majewski, and
Martin Zenker, and
Franz Schaefer, and
Navina Kuss, and
Johann Greil, and
Thomas Giese, and
Klaus Schwarz, and
Vilain Catheline, and
Denny Schanze, and
Ingolf Franke, and
Yves Sznajer, and
Anne S Truant, and
Brigitte Adams, and
Julie Désir, and
Ronald Biemann, and
York Pei, and
Elisabet Ars, and
Nuria Lloberas, and
Alvaro Madrid, and
Vikas R Dharnidharka, and
Anne M Connolly, and
Marcia C Willing, and
Megan A Cooper, and
Richard P Lifton, and
Matias Simons, and
Howard Riezman, and
Corinne Antignac, and
Julie D Saba, and
Friedhelm Hildebrandt
Steroid-resistant nephrotic syndrome (SRNS) causes 15% of chronic kidney disease cases. A mutation in 1 of over 40 monogenic genes can be detected in approximately 30% of individuals with SRNS whose symptoms manifest before 25 years of age. However, in many patients, the genetic etiology remains unknown. Here, we have performed whole exome sequencing to identify recessive causes of SRNS. In 7 families with SRNS and facultative ichthyosis, adrenal insufficiency, immunodeficiency, and neurological defects, we identified 9 different recessive mutations in SGPL1, which encodes sphingosine-1-phosphate (S1P) lyase. All mutations resulted in reduced or absent SGPL1 protein and/or enzyme activity. Overexpression of cDNA representing SGPL1 mutations resulted in subcellular mislocalization of SGPL1. Furthermore, expression of WT human SGPL1 rescued growth of SGPL1-deficient dpl1Δ yeast strains, whereas expression of disease-associated variants did not. Immunofluorescence revealed SGPL1 expression in mouse podocytes and mesangial cells. Knockdown of Sgpl1 in rat mesangial cells inhibited cell migration, which was partially rescued by VPC23109, an S1P receptor antagonist. In Drosophila, Sply mutants, which lack SGPL1, displayed a phenotype reminiscent of nephrotic syndrome in nephrocytes. WT Sply, but not the disease-associated variants, rescued this phenotype. Together, these results indicate that SGPL1 mutations cause a syndromic form of SRNS.
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Sara Goncalves, and
Heon Yung Gee, and
Babak Oskouian, and
Honnappa Srinivas, and
Won-Il Choi, and
Shirlee Shril, and
Shazia Ashraf, and
Weizhen Tan, and
Jia Rao, and
Merlin Airik, and
David Schapiro, and
Daniela A Braun, and
Carolin E Sadowski, and
Eugen Widmeier, and
Tilman Jobst-Schwan, and
Johanna Magdalena Schmidt, and
Vladimir Girik, and
Guido Capitani, and
Jung H Suh, and
Noëlle Lachaussée, and
Christelle Arrondel, and
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Olivier Gribouval, and
Monica Furlano, and
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Alain Schmitt, and
Vincent Vuiblet, and
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Rainer Wilcken, and
Francois P Bernier, and
A Micheil Innes, and
Jillian S Parboosingh, and
Ryan E Lamont, and
Julian P Midgley, and
Nicola Wright, and
Jacek Majewski, and
Martin Zenker, and
Franz Schaefer, and
Navina Kuss, and
Johann Greil, and
Thomas Giese, and
Klaus Schwarz, and
Vilain Catheline, and
Denny Schanze, and
Ingolf Franke, and
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Julie Désir, and
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York Pei, and
Elisabet Ars, and
Nuria Lloberas, and
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Friedhelm Hildebrandt
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Honnappa Srinivas, and
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Shirlee Shril, and
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Weizhen Tan, and
Jia Rao, and
Merlin Airik, and
David Schapiro, and
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Carolin E Sadowski, and
Eugen Widmeier, and
Tilman Jobst-Schwan, and
Johanna Magdalena Schmidt, and
Vladimir Girik, and
Guido Capitani, and
Jung H Suh, and
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Christelle Arrondel, and
Julie Patat, and
Olivier Gribouval, and
Monica Furlano, and
Olivia Boyer, and
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Vincent Vuiblet, and
Seema Hashmi, and
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A Micheil Innes, and
Jillian S Parboosingh, and
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Nicola Wright, and
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Thomas Giese, and
Klaus Schwarz, and
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Shazia Ashraf, and
Weizhen Tan, and
Jia Rao, and
Merlin Airik, and
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Daniela A Braun, and
Carolin E Sadowski, and
Eugen Widmeier, and
Tilman Jobst-Schwan, and
Johanna Magdalena Schmidt, and
Vladimir Girik, and
Guido Capitani, and
Jung H Suh, and
Noëlle Lachaussée, and
Christelle Arrondel, and
Julie Patat, and
Olivier Gribouval, and
Monica Furlano, and
Olivia Boyer, and
Alain Schmitt, and
Vincent Vuiblet, and
Seema Hashmi, and
Rainer Wilcken, and
Francois P Bernier, and
A Micheil Innes, and
Jillian S Parboosingh, and
Ryan E Lamont, and
Julian P Midgley, and
Nicola Wright, and
Jacek Majewski, and
Martin Zenker, and
Franz Schaefer, and
Navina Kuss, and
Johann Greil, and
Thomas Giese, and
Klaus Schwarz, and
Vilain Catheline, and
Denny Schanze, and
Ingolf Franke, and
Yves Sznajer, and
Anne S Truant, and
Brigitte Adams, and
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York Pei, and
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Nuria Lloberas, and
Alvaro Madrid, and
Vikas R Dharnidharka, and
Anne M Connolly, and
Marcia C Willing, and
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Weizhen Tan, and
Jia Rao, and
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Carolin E Sadowski, and
Eugen Widmeier, and
Tilman Jobst-Schwan, and
Johanna Magdalena Schmidt, and
Vladimir Girik, and
Guido Capitani, and
Jung H Suh, and
Noëlle Lachaussée, and
Christelle Arrondel, and
Julie Patat, and
Olivier Gribouval, and
Monica Furlano, and
Olivia Boyer, and
Alain Schmitt, and
Vincent Vuiblet, and
Seema Hashmi, and
Rainer Wilcken, and
Francois P Bernier, and
A Micheil Innes, and
Jillian S Parboosingh, and
Ryan E Lamont, and
Julian P Midgley, and
Nicola Wright, and
Jacek Majewski, and
Martin Zenker, and
Franz Schaefer, and
Navina Kuss, and
Johann Greil, and
Thomas Giese, and
Klaus Schwarz, and
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Denny Schanze, and
Ingolf Franke, and
Yves Sznajer, and
Anne S Truant, and
Brigitte Adams, and
Julie Désir, and
Ronald Biemann, and
York Pei, and
Elisabet Ars, and
Nuria Lloberas, and
Alvaro Madrid, and
Vikas R Dharnidharka, and
Anne M Connolly, and
Marcia C Willing, and
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Matias Simons, and
Howard Riezman, and
Corinne Antignac, and
Julie D Saba, and
Friedhelm Hildebrandt
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Shirlee Shril, and
Shazia Ashraf, and
Weizhen Tan, and
Jia Rao, and
Merlin Airik, and
David Schapiro, and
Daniela A Braun, and
Carolin E Sadowski, and
Eugen Widmeier, and
Tilman Jobst-Schwan, and
Johanna Magdalena Schmidt, and
Vladimir Girik, and
Guido Capitani, and
Jung H Suh, and
Noëlle Lachaussée, and
Christelle Arrondel, and
Julie Patat, and
Olivier Gribouval, and
Monica Furlano, and
Olivia Boyer, and
Alain Schmitt, and
Vincent Vuiblet, and
Seema Hashmi, and
Rainer Wilcken, and
Francois P Bernier, and
A Micheil Innes, and
Jillian S Parboosingh, and
Ryan E Lamont, and
Julian P Midgley, and
Nicola Wright, and
Jacek Majewski, and
Martin Zenker, and
Franz Schaefer, and
Navina Kuss, and
Johann Greil, and
Thomas Giese, and
Klaus Schwarz, and
Vilain Catheline, and
Denny Schanze, and
Ingolf Franke, and
Yves Sznajer, and
Anne S Truant, and
Brigitte Adams, and
Julie Désir, and
Ronald Biemann, and
York Pei, and
Elisabet Ars, and
Nuria Lloberas, and
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Francois P Bernier, and
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Jillian S Parboosingh, and
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Nicola Wright, and
Jacek Majewski, and
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Franz Schaefer, and
Navina Kuss, and
Johann Greil, and
Thomas Giese, and
Klaus Schwarz, and
Vilain Catheline, and
Denny Schanze, and
Ingolf Franke, and
Yves Sznajer, and
Anne S Truant, and
Brigitte Adams, and
Julie Désir, and
Ronald Biemann, and
York Pei, and
Elisabet Ars, and
Nuria Lloberas, and
Alvaro Madrid, and
Vikas R Dharnidharka, and
Anne M Connolly, and
Marcia C Willing, and
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Howard Riezman, and
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Svjetlana Lovric, and
Sara Goncalves, and
Heon Yung Gee, and
Babak Oskouian, and
Honnappa Srinivas, and
Won-Il Choi, and
Shirlee Shril, and
Shazia Ashraf, and
Weizhen Tan, and
Jia Rao, and
Merlin Airik, and
David Schapiro, and
Daniela A Braun, and
Carolin E Sadowski, and
Eugen Widmeier, and
Tilman Jobst-Schwan, and
Johanna Magdalena Schmidt, and
Vladimir Girik, and
Guido Capitani, and
Jung H Suh, and
Noëlle Lachaussée, and
Christelle Arrondel, and
Julie Patat, and
Olivier Gribouval, and
Monica Furlano, and
Olivia Boyer, and
Alain Schmitt, and
Vincent Vuiblet, and
Seema Hashmi, and
Rainer Wilcken, and
Francois P Bernier, and
A Micheil Innes, and
Jillian S Parboosingh, and
Ryan E Lamont, and
Julian P Midgley, and
Nicola Wright, and
Jacek Majewski, and
Martin Zenker, and
Franz Schaefer, and
Navina Kuss, and
Johann Greil, and
Thomas Giese, and
Klaus Schwarz, and
Vilain Catheline, and
Denny Schanze, and
Ingolf Franke, and
Yves Sznajer, and
Anne S Truant, and
Brigitte Adams, and
Julie Désir, and
Ronald Biemann, and
York Pei, and
Elisabet Ars, and
Nuria Lloberas, and
Alvaro Madrid, and
Vikas R Dharnidharka, and
Anne M Connolly, and
Marcia C Willing, and
Megan A Cooper, and
Richard P Lifton, and
Matias Simons, and
Howard Riezman, and
Corinne Antignac, and
Julie D Saba, and
Friedhelm Hildebrandt
October 2020,
AJNR. American journal of neuroradiology,
Svjetlana Lovric, and
Sara Goncalves, and
Heon Yung Gee, and
Babak Oskouian, and
Honnappa Srinivas, and
Won-Il Choi, and
Shirlee Shril, and
Shazia Ashraf, and
Weizhen Tan, and
Jia Rao, and
Merlin Airik, and
David Schapiro, and
Daniela A Braun, and
Carolin E Sadowski, and
Eugen Widmeier, and
Tilman Jobst-Schwan, and
Johanna Magdalena Schmidt, and
Vladimir Girik, and
Guido Capitani, and
Jung H Suh, and
Noëlle Lachaussée, and
Christelle Arrondel, and
Julie Patat, and
Olivier Gribouval, and
Monica Furlano, and
Olivia Boyer, and
Alain Schmitt, and
Vincent Vuiblet, and
Seema Hashmi, and
Rainer Wilcken, and
Francois P Bernier, and
A Micheil Innes, and
Jillian S Parboosingh, and
Ryan E Lamont, and
Julian P Midgley, and
Nicola Wright, and
Jacek Majewski, and
Martin Zenker, and
Franz Schaefer, and
Navina Kuss, and
Johann Greil, and
Thomas Giese, and
Klaus Schwarz, and
Vilain Catheline, and
Denny Schanze, and
Ingolf Franke, and
Yves Sznajer, and
Anne S Truant, and
Brigitte Adams, and
Julie Désir, and
Ronald Biemann, and
York Pei, and
Elisabet Ars, and
Nuria Lloberas, and
Alvaro Madrid, and
Vikas R Dharnidharka, and
Anne M Connolly, and
Marcia C Willing, and
Megan A Cooper, and
Richard P Lifton, and
Matias Simons, and
Howard Riezman, and
Corinne Antignac, and
Julie D Saba, and
Friedhelm Hildebrandt
May 2023,
World journal of pediatrics : WJP,
Svjetlana Lovric, and
Sara Goncalves, and
Heon Yung Gee, and
Babak Oskouian, and
Honnappa Srinivas, and
Won-Il Choi, and
Shirlee Shril, and
Shazia Ashraf, and
Weizhen Tan, and
Jia Rao, and
Merlin Airik, and
David Schapiro, and
Daniela A Braun, and
Carolin E Sadowski, and
Eugen Widmeier, and
Tilman Jobst-Schwan, and
Johanna Magdalena Schmidt, and
Vladimir Girik, and
Guido Capitani, and
Jung H Suh, and
Noëlle Lachaussée, and
Christelle Arrondel, and
Julie Patat, and
Olivier Gribouval, and
Monica Furlano, and
Olivia Boyer, and
Alain Schmitt, and
Vincent Vuiblet, and
Seema Hashmi, and
Rainer Wilcken, and
Francois P Bernier, and
A Micheil Innes, and
Jillian S Parboosingh, and
Ryan E Lamont, and
Julian P Midgley, and
Nicola Wright, and
Jacek Majewski, and
Martin Zenker, and
Franz Schaefer, and
Navina Kuss, and
Johann Greil, and
Thomas Giese, and
Klaus Schwarz, and
Vilain Catheline, and
Denny Schanze, and
Ingolf Franke, and
Yves Sznajer, and
Anne S Truant, and
Brigitte Adams, and
Julie Désir, and
Ronald Biemann, and
York Pei, and
Elisabet Ars, and
Nuria Lloberas, and
Alvaro Madrid, and
Vikas R Dharnidharka, and
Anne M Connolly, and
Marcia C Willing, and
Megan A Cooper, and
Richard P Lifton, and
Matias Simons, and
Howard Riezman, and
Corinne Antignac, and
Julie D Saba, and
Friedhelm Hildebrandt
January 2010,
Advances in enzyme regulation,
