Enhanced deoxysphingobase production in HSN1 results in sensory nerve toxicity through deficits in both cell autonomous and axoglial signalling, ameliorated by serine treatment - - GEO DataSets

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Enhanced deoxysphingobase production in HSN1 results in sensory nerve toxicity through deficits in both cell autonomous and axoglial signalling, ameliorated by serine treatment

(Submitter supplied) Hereditary sensory neuropathy type 1 (HSN1) is caused by mutations in either the SPTLC1 or SPTLC2 sub-units of the enzyme Serine Palmitoyl Transferase resulting in the production of Deoxyshingobases (DSBs). Exogenous DSBs are toxic when acutely applied to neurons however it’s unknown whether endogenous DSBs are neurotoxic and the mechanism of such toxicity. Using induced pleuripotent stem cells (iPSC) from HSN1 patients we found increased DSB production from both hepatocytes and sensory neurons. more...

Organism:: Homo sapiens

Type:: Expression profiling by high throughput sequencing

Platform:: GPL20301
35 Samples

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Accession:: GSE144208

ID:: 200144208

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Enhanced deoxysphingobase production in HSN1 results in sensory nerve toxicity t...
Enhanced deoxysphingobase production in HSN1 results in sensory nerve toxicity through deficits in both cell autonomous and axoglial signalling, ameliorated by serine treatment
Accession: GSE144208

GEO DataSets
"disease state"[All Fields] AND "Homo Sapiens"[porgn] AND ("Senso... (1)
"disease state"[All Fields] AND "Homo Sapiens"[porgn] AND ("Sensory Neuropathy Type 1"[MeSH Terms] OR "Sensory Neuropathy Type 1"[All Fields]) AND ("gds"[Filter] OR "gse"[Filter] OR "gsm"[Filter]) AND ("Expression profiling by array"[Filter] OR Expression profiling by high throughput sequencing[Filter])
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