Sphingosine phosphate lyase insufficiency syndrome (SPLIS): A novel inborn error of sphingolipid metabolism

scientific article published on 25 September 2018

Sphingosine phosphate lyase insufficiency syndrome (SPLIS): A novel inborn error of sphingolipid metabolism is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1016/J.JBIOR.2018.09.004
P932PMC publication ID6347531
P698PubMed publication ID30274713

P2093author name stringJulie D Saba
Youn-Jeong Choi
P2860cites workHuman sphingosine-1-phosphate lyase: cDNA cloning, functional expression studies and mapping to chromosome 10q22(1)Q24290363
Sphingosine-1-phosphate is a missing cofactor for the E3 ubiquitin ligase TRAF2Q24336131
The sphingolipid salvage pathway in ceramide metabolism and signalingQ24642219
Sphingosine-1-phosphate receptor 1 signalling in T cells: trafficking and beyondQ27011857
Structure and function of sphingosine-1-phosphate lyase, a key enzyme of sphingolipid metabolismQ27664005
The BST1 gene of Saccharomyces cerevisiae is the sphingosine-1-phosphate lyaseQ27930762
The Sjögren-Larsson syndrome gene encodes a hexadecenal dehydrogenase of the sphingosine 1-phosphate degradation pathway.Q27933383
Identification of the first mammalian sphingosine phosphate lyase gene and its functional expression in yeastQ28261678
Principles of bioactive lipid signalling: lessons from sphingolipidsQ28265743
Essential role for sphingosine kinases in neural and vascular developmentQ28505987
The PDGF signaling pathway controls multiple steroid-producing lineagesQ28587022
PDGF signaling specificity is mediated through multiple immediate early genesQ28593571
Sphingosine 1-phosphate lyase ablation disrupts presynaptic architecture and function via an ubiquitin- proteasome mediated mechanism.Q30829642
SGPL1 (sphingosine phosphate lyase 1) modulates neuronal autophagy via phosphatidylethanolamine productionQ30853652
Genetic testing in steroid-resistant nephrotic syndrome: when and how?Q33361808
Incomplete inhibition of sphingosine 1-phosphate lyase modulates immune system function yet prevents early lethality and non-lymphoid lesionsQ33396938
Protein misfolding and degradation in genetic diseases.Q33728820
Regulation of histone acetylation in the nucleus by sphingosine-1-phosphate.Q33773569
Sphingosine 1-phosphate lyase deficiency disrupts lipid homeostasis in liverQ33796272
A prokaryotic S1P lyase degrades extracellular S1P in vitro and in vivo: implication for treating hyperproliferative disordersQ33988392
Oral L-serine supplementation reduces production of neurotoxic deoxysphingolipids in mice and humans with hereditary sensory autonomic neuropathy type 1.Q34229460
Oxysterol binding protein-dependent activation of sphingomyelin synthesis in the golgi apparatus requires phosphatidylinositol 4-kinase IIα.Q34360965
An update on sphingosine-1-phosphate and other sphingolipid mediatorsQ34402916
Oral fingolimod (FTY720) for relapsing multiple sclerosisQ34565985
Sphingosine-1-phosphate lyase deficiency produces a pro-inflammatory response while impairing neutrophil trafficking.Q34606305
Sphingosine-1-phosphate receptors and the development of the vascular systemQ34691550
Phosphatidylethanolamine positively regulates autophagy and longevityQ35079520
Sphingosine-1-phosphate lyase downregulation promotes colon carcinogenesis through STAT3-activated microRNAsQ35145464
Ceramide-rich platforms in transmembrane signalingQ35633883
Redirection of sphingolipid metabolism toward de novo synthesis of ethanolamine in LeishmaniaQ35752867
HDL-bound sphingosine-1-phosphate restrains lymphopoiesis and neuroinflammationQ35862820
Sustained pyridoxine response in primary hyperoxaluria type 1 recipients of kidney alone transplantQ35977167
Sphingosine-1-phosphate lyase expression in embryonic and adult murine tissuesQ36145233
Sphingosine 1-phosphate and ceramide 1-phosphate: expanding roles in cell signalingQ36284042
Sphingolipid metabolism cooperates with BAK and BAX to promote the mitochondrial pathway of apoptosisQ36422392
Immunohistochemical analysis of sphingosine phosphate lyase expression during murine developmentQ36581831
Sphingosine-1-phosphate links persistent STAT3 activation, chronic intestinal inflammation, and development of colitis-associated cancer.Q36627430
Sply regulation of sphingolipid signaling molecules is essential for Drosophila developmentQ44408457
Substrate reduction intervention by L-cycloserine in twitcher mice (globoid cell leukodystrophy) on a B6;CAST/Ei backgroundQ44514406
Lymphocyte sequestration through S1P lyase inhibition and disruption of S1P gradientsQ46265539
Degradation of sphingoid long-chain base 1-phosphates (LCB-1Ps): functional characterization and expression of AtDPL1 encoding LCB-1P lyase involved in the dehydration stress response in Arabidopsis.Q46320194
Ceramide Is Metabolized to Acylceramide and Stored in Lipid DropletsQ47951459
S1P Lyase Regulation of Thymic Egress and Oncogenic Inflammatory SignalingQ48247517
Steroid-resistant nephrotic syndrome: past and current perspectivesQ49500608
Deficiency of the sphingosine-1-phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcifications.Q50456678
Targeting Glucosylceramide Synthesis in the Treatment of Rare and Common Renal Disease.Q51732049
A novel mutation in sphingosine-1-phosphate lyase causing congenital brain malformation.Q52675937
Sphingosine-1-phosphate receptors and innate immunity.Q52677659
Reduced Activity of Sphingosine-1-Phosphate Lyase Induces Podocyte-related Glomerular Proteinuria, Skin Irritation, and Platelet Activation.Q53633118
Biphasic regulation of type II phosphatidylinositol-4 kinase by sphingosine: cross talk between glycero- and sphingolipids in the kidney.Q54388822
Targeting sphingosine-1-phosphate lyase as an anabolic therapy for bone lossQ57399036
Sphingolipid hydrolyzing enzymes in the gastrointestinal tractQ73186737
Adrenal insufficiency in association with congenital nephrotic syndrome: a case reportQ87451003
Sphingosine 1-phosphate and cancerQ89059771
Sphingolipids and neuronal degeneration in lysosomal storage disordersQ89360246
Nephrotic syndrome and adrenal insufficiency caused by a variant in SGPL1Q90845514
Sphingosine-1-phosphate regulation of mammalian development.Q36924324
Subcellular origin of sphingosine 1-phosphate is essential for its toxic effect in lyase-deficient neuronsQ37160896
Ceramide kinase and the ceramide-1-phosphate/cPLA2alpha interaction as a therapeutic targetQ37239622
Role of sphingosine kinases and lipid phosphate phosphatases in regulating spatial sphingosine 1-phosphate signalling in health and diseaseQ37259737
Production and characterization of monoclonal anti-sphingosine-1-phosphate antibodiesQ37382152
Lyase to live by: sphingosine phosphate lyase as a therapeutic targetQ37414484
Dendritic cell sphingosine-1-phosphate lyase regulates thymic egressQ37415213
Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiencyQ37672116
Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndromeQ37672138
PLP-dependent enzymes as entry and exit gates of sphingolipid metabolismQ37895205
Sphingosine-1-phosphate and its receptors: structure, signaling, and influenceQ38092862
Disentangling biological signaling networks by dynamic coupling of signaling lipids to modifying enzymesQ38157461
The chaperone role of the pyridoxal 5'-phosphate and its implications for rare diseases involving B6-dependent enzymes.Q38172732
The therapeutic potential of chemical chaperones in protein folding diseases.Q38211124
Causes and pathogenesis of focal segmental glomerulosclerosisQ38275115
The therapeutic effects of 4-phenylbutyric acid in maintaining proteostasisQ38347258
Sphingosine-1-phosphate links glycosphingolipid metabolism to neurodegeneration via a calpain-mediated mechanismQ38391849
Recent advances and novel treatments for sphingolipidosesQ38635135
Unwinding focal segmental glomerulosclerosisQ38685434
The sphingosine 1-phosphate breakdown product, (2E)-hexadecenal, forms protein adducts and glutathione conjugates in vitroQ38739843
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disordersQ38802675
Cholesterol interactions with ceramide and sphingomyelin.Q38821945
Epithelial cell extrusion: Pathways and pathologies.Q38841415
Epigenetic regulation of pro-inflammatory cytokine secretion by sphingosine 1-phosphate (S1P) in acute lung injury: Role of S1P lyaseQ38976359
Ceramidases, roles in sphingolipid metabolism and in health and diseaseQ38988326
Sphingosine 1-phosphate lyase deficiency causes Charcot-Marie-Tooth neuropathy.Q39026251
Partial deficiency of sphingosine-1-phosphate lyase confers protection in experimental autoimmune encephalomyelitisQ39356027
Characterization of secreted sphingosine-1-phosphate lyases required for virulence and intracellular survival of Burkholderia pseudomalleiQ39385841
New developments in Charcot-Marie-Tooth neuropathy and related diseasesQ39415070
A Legionella effector acquired from protozoa is involved in sphingolipids metabolism and is targeted to the host cell mitochondria.Q39852238
Therapeutic Gene Editing Safety and Specificity.Q40045823
The coordination of prostaglandin E2 production by sphingosine-1-phosphate and ceramide-1-phosphateQ40420944
Sphingosine-1-phosphate lyase SPL is an endoplasmic reticulum-resident, integral membrane protein with the pyridoxal 5'-phosphate binding domain exposed to the cytosol.Q40496768
Sphingosine-phosphate lyaseQ40850218
Sphingolipids--the enigmatic lipid class: biochemistry, physiology, and pathophysiologyQ41328049
Roles of sphingosine-1-phosphate signaling in angiogenesisQ41812316
The sphingolipid degradation product trans-2-hexadecenal forms adducts with DNA.Q42212613
Discontinued postnatal thymocyte development in sphingosine 1-phosphate-lyase-deficient mice.Q43277471
Sphingosine phosphate lyase expression is essential for normal development in Caenorhabditis elegansQ44394459
P407language of work or nameEnglishQ1860
P921main subjectsphingolipidsQ410395
P304page(s)128-140
P577publication date2018-09-25
P1433published inAdvances in Biological RegulationQ26854003
P1476titleSphingosine phosphate lyase insufficiency syndrome (SPLIS): A novel inborn error of sphingolipid metabolism
P478volume71

Reverse relations

cites work (P2860)
Q93166960A Sphingosine-1-Phosphate Lyase Mutation Associated With Congenital Nephrotic Syndrome and Multiple Endocrinopathy
Q90328179S1P and plasmalogen derived fatty aldehydes in cellular signaling and functions
Q90280804SGPL1 Deficiency: A Rare Cause of Primary Adrenal Insufficiency
Q92711711Sphingosine 1-Phosphate Receptors and Metabolic Enzymes as Druggable Targets for Brain Diseases

Search more.