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Specific Deoxyceramide Species Correlate with Expression of Macular Telangiectasia Type 2 (MacTel2) in a SPTLC2 Carrier HSAN1 Family

https://doi.org/10.3390/genes14040931
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What this work says

Outgoing claims: the papers this work cites, builds on, or argues with.

inferredcites →https://doi.org/10.1002/acn3.51110openalex-snapshot
Demyelination in hereditary sensory neuropathy type‐1C
inferredcites →https://doi.org/10.1007/978-1-4614-0631-0_70openalex-snapshot
Ceramide Signaling in Retinal Degeneration
inferredcites →https://doi.org/10.1007/bf02540132openalex-snapshot
Methods for methanolysis of sphingolipids and direct determination of long‐chain bases by gas chromatography
inferredcites →https://doi.org/10.1007/s12017-016-8423-9openalex-snapshot
Increased Plasma Levels of Select Deoxy-ceramide and Ceramide Species are Associated with Increased Odds of Diabetic Neuropathy in Type 1 Diabetes: A Pilot Study
inferredcites →https://doi.org/10.1007/s12017-019-08534-wopenalex-snapshot
A Novel Variant (Asn177Asp) in SPTLC2 Causing Hereditary Sensory Autonomic Neuropathy Type 1C
inferredcites →https://doi.org/10.1007/s12017-021-08698-4openalex-snapshot
Deoxysphingolipids Upregulate MMP-1, Downregulate TIMP-1, and Induce Cytotoxicity in Human Schwann Cells
inferredcites →https://doi.org/10.1016/b978-0-444-52902-2.00050-3openalex-snapshot
Hereditary sensory and autonomic neuropathies
inferredcites →https://doi.org/10.1016/j.ajhg.2010.09.010openalex-snapshot
Mutations in the SPTLC2 Subunit of Serine Palmitoyltransferase Cause Hereditary Sensory and Autonomic Neuropathy Type I
inferredcites →https://doi.org/10.1016/j.bbalip.2016.08.016openalex-snapshot
Regulation of glucose homeostasis and insulin action by ceramide acyl-chain length: A beneficial role for very long-chain sphingolipid species
inferredcites →https://doi.org/10.1016/j.exer.2020.108204openalex-snapshot
Spectacle: An interactive resource for ocular single-cell RNA sequencing data analysis
inferredcites →https://doi.org/10.1016/j.mito.2017.02.002openalex-snapshot
Mitochondrial function in Müller cells - Does it matter?
inferredcites →https://doi.org/10.1016/j.oret.2019.03.014openalex-snapshot
OCT Angiography Findings of Tamoxifen Retinopathy
inferredcites →https://doi.org/10.1016/j.oret.2022.08.004openalex-snapshot
Tamoxifen Retinopathy and Macular Telangiectasia Type 2
inferredcites →https://doi.org/10.1016/j.plipres.2006.01.004openalex-snapshot
Fatty acid elongases in mammals: Their regulation and roles in metabolism
inferredcites →https://doi.org/10.1016/j.xcrm.2021.100345openalex-snapshot
An iPSC model of hereditary sensory neuropathy-1 reveals L-serine-responsive deficits in neuronal ganglioside composition and axoglial interactions
inferredcites →https://doi.org/10.1038/jid.2011.333openalex-snapshot
Decrease of Ceramides with Very Long–Chain Fatty Acids and Downregulation of Elongases in a Murine Atopic Dermatitis Model
inferredcites →https://doi.org/10.1038/s41586-022-05637-6openalex-snapshot
Insulin-regulated serine and lipid metabolism drive peripheral neuropathy
inferredcites →https://doi.org/10.1038/s41594-020-00551-9openalex-snapshot
Structural insights into the regulation of human serine palmitoyltransferase complexes
inferredcites →https://doi.org/10.1038/s41598-020-69164-yopenalex-snapshot
Systemic lipid dysregulation is a risk factor for macular neurodegenerative disease
inferredcites →https://doi.org/10.1038/s41598-022-25330-yopenalex-snapshot
Long chain ceramides raise the main phase transition of monounsaturated phospholipids to physiological temperature
inferredcites →https://doi.org/10.1038/s42003-021-01788-wopenalex-snapshot
Identification of genetic factors influencing metabolic dysregulation and retinal support for MacTel, a retinal disorder
inferredcites →https://doi.org/10.1038/s42255-019-0134-8openalex-snapshot
Metabolic Messengers: ceramides
inferredcites →https://doi.org/10.1038/s42255-021-00361-3openalex-snapshot
Serine biosynthesis defect due to haploinsufficiency of PHGDH causes retinal disease
inferredcites →https://doi.org/10.1039/c8np00019kopenalex-snapshot
Sphingolipid biosynthesis in man and microbes
inferredcites →https://doi.org/10.1042/bj20070025openalex-snapshot
Is the mammalian serine palmitoyltransferase a high-molecular-mass complex?
inferredcites →https://doi.org/10.1056/nejmoa1815111openalex-snapshot
Serine and Lipid Metabolism in Macular Disease and Peripheral Neuropathy
inferredcites →https://doi.org/10.1074/jbc.m109.092973openalex-snapshot
Hereditary Sensory Neuropathy Type 1 Is Caused by the Accumulation of Two Neurotoxic Sphingolipids
inferredcites →https://doi.org/10.1074/jbc.m111568200openalex-snapshot
Membrane Restructuring via Ceramide Results in Enhanced Solute Efflux
inferredcites →https://doi.org/10.1074/jbc.m114.603860openalex-snapshot
l-Serine Deficiency Elicits Intracellular Accumulation of Cytotoxic Deoxysphingolipids and Lipid Body Formation
inferredcites →https://doi.org/10.1074/jbc.r115.658823openalex-snapshot
1-Deoxysphingolipids Encountered Exogenously and Made de Novo: Dangerous Mysteries inside an Enigma
inferredcites →https://doi.org/10.1080/15548627.2020.1804677openalex-snapshot
1-Deoxysphingolipids cause autophagosome and lysosome accumulation and trigger NLRP3 inflammasome activation
inferredcites →https://doi.org/10.1093/bioinformatics/btv362openalex-snapshot
IBS: an illustrator for the presentation and visualization of biological sequences
inferredcites →https://doi.org/10.1093/hmg/ddv611openalex-snapshot
HSAN1 mutations in serine palmitoyltransferase reveal a close structure–function–phenotype relationship
inferredcites →https://doi.org/10.1093/hmg/ddy239openalex-snapshot
Identifying core biological processes distinguishing human eye tissues with precise systems-level gene expression analyses and weighted correlation networks
inferredcites →https://doi.org/10.1093/jb/mvp100openalex-snapshot
Structural Insights into the Enzymatic Mechanism of Serine Palmitoyltransferase from Sphingobacterium multivorum
inferredcites →https://doi.org/10.1093/nar/gkac1052openalex-snapshot
UniProt: the Universal Protein Knowledgebase in 2023
inferredcites →https://doi.org/10.1097/iae.0000000000000082openalex-snapshot
FIRST SYMPTOMS AND THEIR AGE OF ONSET IN MACULAR TELANGIECTASIA TYPE 2
inferredcites →https://doi.org/10.1111/jns.12315openalex-snapshot
Hereditary sensory and autonomic neuropathy type IC accompanied by upper motor neuron abnormalities and type II juxtafoveal retinal telangiectasias
inferredcites →https://doi.org/10.1111/jns.12508openalex-snapshot
Description of a patient cohort with Hereditary Sensory Neuropathy type 1 without retinal disease Macular Telangiectasia type 2 ‐ implications for retinal screening in HSN1
inferredcites →https://doi.org/10.1186/s13073-021-00848-4openalex-snapshot
Genetic disruption of serine biosynthesis is a key driver of macular telangiectasia type 2 aetiology and progression
inferredcites →https://doi.org/10.1530/erc-19-0510openalex-snapshot
Serine synthesis influences tamoxifen response in ER+ human breast carcinoma
inferredcites →https://doi.org/10.2147/opth.s373538openalex-snapshot
Macular Telangiectasia Type 2: A Comprehensive Review
inferredcites →https://doi.org/10.2337/db14-1325openalex-snapshot
Lowering Plasma 1-Deoxysphingolipids Improves Neuropathy in Diabetic Rats
inferredcites →https://doi.org/10.2337/db17-1034openalex-snapshot
ELOVL4-Mediated Production of Very Long-Chain Ceramides Stabilizes Tight Junctions and Prevents Diabetes-Induced Retinal Vascular Permeability
inferredcites →https://doi.org/10.3390/cells9030674openalex-snapshot
The Intersection of Serine Metabolism and Cellular Dysfunction in Retinal Degeneration
inferredcites →https://doi.org/10.3390/ijms16035076openalex-snapshot
Ceramide-Induced Apoptosis in Renal Tubular Cells: A Role of Mitochondria and Sphingosine-1-Phoshate

What points at this work

Incoming claims: where this work appears in other papers’ reference lists and arguments.

inferred← citeshttps://doi.org/10.2139/ssrn.4794969openalex-extracted
(1-Deoxy)Ceramides in Bilayers Containing Sphingomyelin and Cholesterol
inferred← citeshttps://doi.org/10.1016/j.celrep.2024.115054openalex-snapshot
SPTLC3 regulates plasma membrane sphingolipid composition to facilitate hepatic gluconeogenesis
inferred← citeshttps://doi.org/10.1016/j.colsurfb.2024.114155openalex-snapshot
(1-Deoxy)ceramides in bilayers containing sphingomyelin and cholesterol
inferred← citeshttps://doi.org/10.1016/j.jlr.2026.101141openalex-snapshot
Mechanisms of deoxysphinganine cytotoxicity in lymphoma cells
inferred← citeshttps://doi.org/10.1136/bcr-2023-259447openalex-snapshot
Exudative variant of non-proliferative MacTel type 2A in a SPTLC2 carrier with hereditary sensory and autonomic neuropathy
inferred← citeshttps://doi.org/10.3390/ijms26020684openalex-snapshot
Genetic Background of Macular Telangiectasia Type 2
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