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TranscriptomicsSEPN1-related myopathy depends on the ER oxidase ERO1 alpha and is responsive to the chemical chaperone TUDCA
SEPN1 is a type II protein of the endoplasmic reticulum (ER) whose loss of function gives rise to a collection of debilitating autosomal recessive myopathies gathered under the umbrella term of SEPN1-related myopathy (RM). At the moment, SEPN1-RM lacks an effective pharmacological treatment; thus, t...
ORGANISM(S): Mus musculus 
2024-02-14 | E-MTAB-12460 | biostudies-arrayexpress
TranscriptomicsGene-expression profiling of SEPN1 knockout or wild type mice injected with either ERO1 or PBS
Endoplasmic reticulum (ER) and oxidative stress are two related phenomena that have important metabolic consequences. As many skeletal muscle diseases are triggered by oxidative stress, we explored the chain of events linking a hyper oxidized ER (which causes ER and oxidative stress) with skeletal m...
ORGANISM(S): Mus musculus 
2016-10-01 | E-MTAB-4933 | biostudies-arrayexpress
ProteomicsSEPN1-related myopathy depends on the oxidoreductase ERO1 alpha and is druggable with the chemical chaperone TUDCA
SEPN1-related myopathy depends on the oxidoreductase ERO1 alpha and is druggable with the chemical chaperone TUDCA
ORGANISM(S): Homo sapiens (Human) 
2024-05-24 | PXD047157 | Pride
Tudca Multi mini-core disease Er stress Ero1 Sepn1 Core myopathy 
GenomicsSEPN1-related myopathy depends on the ER oxidase ERO1 alpha and is responsive to the chemical chaperone TUDCA
SEPN1-related myopathy depends on the ER oxidase ERO1 alpha and is responsive to the chemical chaperone TUDCA
PRJEB64682 | ENA
UnknownSEPN1-related myopathy depends on the oxidoreductase ERO1A and is druggable with the chemical chaperone TUDCA.
Not available
S-EPMC10982971 | biostudies-literature
UnknownIntegrative analysis of SEPN1 in glioma: Prognostic roles, functional implications, and potential therapeutic interventions.
Not available
S-EPMC11805447 | biostudies-literature
UnknownThe clinical, histologic, and genotypic spectrum of SEPN1-related myopathy: A case series.
Not available
S-EPMC7713742 | biostudies-literature
UnknownProtocol for measuring force in skinned diaphragm muscle fibers of myopathic SEPN1 knockout mice following chronic tauroursodeoxycholic acid treatment.
Not available
S-EPMC12266584 | biostudies-literature
UnknownIncreased muscle stress-sensitivity induced by selenoprotein N inactivation in mouse: a mammalian model for SEPN1-related myopathy.
Not available
S-EPMC3152547 | biostudies-literature
UnknownTargeted next generation sequencing identifies two novel mutations in SEPN1 in rigid spine muscular dystrophy 1.
Not available
S-EPMC5356628 | biostudies-literature
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