Clinical presentation and management challenges of sphingosine-1-phosphate lyase insufficiency syndrome associated with an SGPL1 variant: a case report

Authors: Vahid Saeedi, Nahid Rahimzadeh, Fahimeh Ehsanipour, Neda Shalbaf, Amirhosein Farahi, Khalil Rashidi, Leila Kamalzadeh

Source: BMC Pediatrics, Vol 25, Iss 1, Pp 1-7 (2025)

Subject Terms: Sphingosine-1-phosphate lyase insufficiency syndrome (SPLIS), Sphingosine-1-phosphate lyase 1 (SGPL1), Sphingolipids, Nephrotic syndrome, Adrenal insufficiency, Case report, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://doaj.org/toc/1471-2431

Access URL: https://doaj.org/article/f45d6467f16d4c00a2f309f9a7107615

Factors influencing survival in sphingosine phosphate lyase insufficiency syndrome: a retrospective cross-sectional natural history study of 76 patients

Authors: Nancy Keller, Julian Midgley, Ehtesham Khalid, Harry Lesmana, Georgie Mathew, Christine Mincham, Norbert Teig, Zubair Khan, Indu Khosla, Sam Mehr, Tulay Guran, Kathrin Buder, Hong Xu, Khalid Alhasan, Gonul Buyukyilmaz, Nicole Weaver, Julie D. Saba

Source: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-17 (2024)

Subject Terms: SPLIS, SGPL1, Inborn error of metabolism, Nephrotic syndrome, Adrenal insufficiency, Kidney transplantation, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/001681b6efb54f18aee01a6b8c1590c9

A retrospective analysis of endocrine disease in sphingosine-1-phosphate lyase insufficiency: case series and literature review

Authors: Avinaash Maharaj, Ruth Kwong, Jack Williams, Christopher Smith, Helen Storr, Ruth Krone, Debora Braslavsky, Maria Clemente, Nanik Ram, Indraneel Banerjee, Semra Çetinkaya, Federica Buonocore, Tülay Güran, John C Achermann, Louise Metherell, Rathi Prasad

Source: Endocrine Connections, Vol 11, Iss 8, Pp 1-13 (2022)

Subject Terms: sphingosine-1-phosphate lyase, sgpl1, sphingolipids, primary adrenal insufficiency, primary gonadal insufficiency, primary hypothyroidism, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

File Description: electronic resource

Relation: https://ec.bioscientifica.com/view/journals/ec/11/8/EC-22-0250.xml; https://doaj.org/toc/2049-3614

Access URL: https://doaj.org/article/998cb49010bf449f9664169eafe1b31b

Combined novel homozygous variants in both SGPL1 and STAT1 presenting with severe combined immune deficiency: case report and literature review

Authors: Adriel Roa-Bautista, Mahreen Sohail, Emma Wakeling, Kimberly C. Gilmour, Mark Davis, Anthony Gait, Giovanna Lucchini, David Cox, Reem Elfeky, Maaike Kusters

Source: Frontiers in Immunology, Vol 14 (2023)

Subject Terms: case report, ichthyosis, lymphopenia, steroid-resistant nephrotic syndrome (SRNS), SGPL1 gene mutation, STAT1, Immunologic diseases. Allergy, RC581-607

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fimmu.2023.1186575/full; https://doaj.org/toc/1664-3224

Access URL: https://doaj.org/article/64535b3c0be948c49117b737d3543dc5

Sphingolipids

Contributors: van Echten-Deckert, Gerhild

Subject Terms: S1P receptor, inflammation, S1P transporter, spinster homolog 2, barrier dysfunction, anxiety, depression, sphingolipids, sphingomyelinase, ceramidase, Smpd1, acid sphingomyelinase, forebrain, depressive-like behavior, anxiety-like behavior, ceramide, ceramides, ceramidases, neurodegenerative diseases, infectious diseases, sphingosine 1-phoshate, sphingosine 1-phosphate receptor, S1P1–5, sphingosine 1-phosphate metabolism, sphingosine 1-phosphate antagonistst/inhibitors, sphingosine 1-phosphate signaling, stroke, multiple sclerosis, neurodegeneration, fingolimod, Sphingosine-1-phosphate, obesity, type 2 diabetes, insulin resistance, pancreatic β cell fate, hypothalamus, sphingosine-1-phosphate, ischemia/reperfusion, cardioprotection, vasoconstriction, coronary flow, myocardial function, myocardial infarct, albumin, type 1 diabetes, beta-cells, islets, insulin, cytokines, S1P, animal models, cystic fibrosis, autophagy, myriocin, Aspergillus fumigatus, CLN3 disease, Cln3Δex7/8 mice, flupirtine, allyl carbamate derivative, apoptosis, cancer, gangliosides, immunotherapy, metastasis, phenotype switching, sphingosine 1-phosphate, Sphingosine 1-phosphate (S1P), S1P-lyase (SGPL1), tau, calcium, histone acetylation, hippocampus, cortex, astrocytes, neurons, sphingosine kinase, G-protein-coupled receptors, Gαq/11, sphingosine kinase 1, SK1, microRNA, transcription factor, hypoxia, long non-coding RNA, Research and information: general, Biology, life sciences

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Access URL: https://directory.doabooks.org/handle/20.500.12854/76606
https://mdpi.com/books/pdfview/book/4051

Steroid-resistant nephrotic syndrome associated with certain SGPL1 variants in a family: Case report and literature review

Authors: Siying Yang, Yonghua He, Jianhua Zhou, Huiqing Yuan, Liru Qiu

Source: Frontiers in Pediatrics, Vol 11 (2023)

Subject Terms: steroid-resistant nephrotic syndrome, proteinuria, SGPL1 gene mutation, clinical phenotype, genotype, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2023.1079758/full; https://doaj.org/toc/2296-2360

Access URL: https://doaj.org/article/d4457dcd68814ccd8ec5812ca0f1041a

S1P Lyase Deficiency in the Brain Promotes Astrogliosis and NLRP3 Inflammasome Activation via Purinergic Signaling

Authors: Shah Alam, Sumaiya Yasmeen Afsar, Maya Anik Wolter, Luisa Michelle Volk, Daniel Nicolae Mitroi, Dagmar Meyer zu Heringdorf, Gerhild van Echten-Deckert

Source: Cells, Vol 12, Iss 14, p 1844 (2023)

Subject Terms: sphingosine 1-phosphate (S1P), S1P-lyase (SGPL1), astrogliosis, P2Y1 receptor (P2Y1R), neuroinflammation, NLRP3 inflammasome, Cytology, QH573-671

File Description: electronic resource

Relation: https://www.mdpi.com/2073-4409/12/14/1844; https://doaj.org/toc/2073-4409

Access URL: https://doaj.org/article/08f9df6a206044d48bc12ef5a27d545d

A Murine Point Mutation of Sgpl1 Skin Is Enriched With Vγ6 IL17-Producing Cell and Revealed With Hyperpigmentation After Imiquimod Treatment

Authors: Wenyi Yang, Binhui Zhou, Qi Liu, Taozhen Liu, Huijie Wang, Pei Zhang, Liaoxun Lu, Lichen Zhang, Fanghui Zhang, Rong Huang, Jitong Zhou, Tianzhu Chao, Yanrong Gu, Songhua Lee, Hui Wang, Yinming Liang, Le He

Source: Frontiers in Immunology, Vol 13 (2022)

Subject Terms: sgpl1, psoriasis, IL17, γδT cell, SPLIS, Immunologic diseases. Allergy, RC581-607

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fimmu.2022.728455/full; https://doaj.org/toc/1664-3224

Access URL: https://doaj.org/article/1f738e50087640e796dfa1026e99931d

Fifty years of lyase and a moment of truth: sphingosine phosphate lyase from discovery to disease[S]

Authors: Julie D. Saba

Source: Journal of Lipid Research, Vol 60, Iss 3, Pp 456-463 (2019)

Subject Terms: sphingolipids, sphingosine-1-phosphate, SGPL1, sphingosine phosphate lyase insufficiency syndrome, Biochemistry, QD415-436

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0022227520326080; https://doaj.org/toc/0022-2275

Access URL: https://doaj.org/article/5f245d71c25b40f98216ba907893242f

A Sphingosine-1-Phosphate Lyase Mutation Associated With Congenital Nephrotic Syndrome and Multiple Endocrinopathy

Authors: Avinaash Maharaj, Demetria Theodorou, Indraneel (Indi) Banerjee, Louise A. Metherell, Rathi Prasad, Dean Wallace

Source: Frontiers in Pediatrics, Vol 8 (2020)

Subject Terms: SGPL1, sphingosine-1-phosphate lyase, congenital nephrotic syndrome, primary adrenal insufficiency, multiple endocrinopathy, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fped.2020.00151/full; https://doaj.org/toc/2296-2360

Access URL: https://doaj.org/article/67e3de037d144841a33ef8cbcf0f167b

Spns2 Transporter Contributes to the Accumulation of S1P in Cystic Fibrosis Human Bronchial Epithelial Cells

Authors: Aida Zulueta, Michele Dei Cas, Francesco Luciano, Alessandra Mingione, Francesca Pivari, Ilaria Righi, Letizia Morlacchi, Lorenzo Rosso, Paola Signorelli, Riccardo Ghidoni, Rita Paroni, Anna Caretti

Source: Biomedicines, Vol 9, Iss 9, p 1121 (2021)

Subject Terms: Spns2, S1P, sphingosine, SphK1, SGPL1, cystic fibrosis, Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://www.mdpi.com/2227-9059/9/9/1121; https://doaj.org/toc/2227-9059

Access URL: https://doaj.org/article/b1bef89aafea47b38a89236a50173078

Neurodegeneration Caused by S1P-Lyase Deficiency Involves Calcium-Dependent Tau Pathology and Abnormal Histone Acetylation

Authors: Shah Alam, Antonia Piazzesi, Mariam Abd El Fatah, Maren Raucamp, Gerhild van Echten-Deckert

Source: Cells, Vol 9, Iss 10, p 2189 (2020)

Subject Terms: Sphingosine 1-phosphate (S1P), S1P-lyase (SGPL1), tau, calcium, histone acetylation, hippocampus, Cytology, QH573-671

File Description: electronic resource

Relation: https://www.mdpi.com/2073-4409/9/10/2189; https://doaj.org/toc/2073-4409

Access URL: https://doaj.org/article/28e37ca43e0346fbb37a17263afb15b9

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