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TranscriptomicsTranscription profiling of mouse Hexose-6-phosphate dehydrogenase knockout muscle at 4 weeks
Hexose-6-phosphate dehydrogenase (H6PD)is the initial component of a pentose phosphate pathway inside the endoplasmic reticulum (ER) that generates NADPH for ER enzymes. In liver, H6PD is required for the 11-oxoreductase activity of 11ss-hydroxysteroid dehydrogenase type 1 (11ss-HSD1), which convert...
ORGANISM(S): Mus musculus 
2008-06-11 | E-GEOD-10347 | biostudies-arrayexpress
UnknownPathological mechanisms of vacuolar aggregate myopathy arising from a Casq1 mutation.
Not available
S-EPMC8138327 | biostudies-literature
UnknownAutophagic vacuolar myopathy is a common feature of CLN3 disease.
Not available
S-EPMC6243389 | biostudies-literature
UnknownRepeat Expansions in PLIN4 Cause Autosomal Dominant Vacuolar Myopathy With Sarcolemmal Features.
Not available
S-EPMC12516251 | biostudies-literature
UnknownAutophagic vacuolar pathology in desminopathies.
Not available
S-EPMC4355324 | biostudies-literature
UnknownCharacterization of Two Human Skeletal Calsequestrin Mutants Implicated in Malignant Hyperthermia and Vacuolar Aggregate Myopathy.
Not available
S-EPMC4661382 | biostudies-literature
UnknownDifferential diagnosis of vacuolar myopathies in the NGS era.
Not available
S-EPMC8017999 | biostudies-literature
UnknownAutophagy is affected in patients with hypokalemic periodic paralysis: an involvement in vacuolar myopathy?
Not available
S-EPMC8201813 | biostudies-literature
TranscriptomicsDefective Autophagy in GNE Myopathy is Reversed by Inhibition of Supplementary mTOR Activation [cells RNA-seq]
GNE myopathy, a recessive autosomal disease caused by mutations in Glucosamine-(UDP-N-Acetyl)-2-Epimerase/N-Acetylmannosamine Kinase (GNE), is characterized by deficient sialic acid (SA) production and the formation of rimmed vacuoles. Similar to other autophagic vacuolar myopathies, defective autop...
ORGANISM(S): Mus musculus 
2026-05-15 | GSE278862 | GEO
TranscriptomicsDefective Autophagy in GNE Myopathy is Reversed by Inhibition of Supplementary mTOR Activation [organoids RNA-seq]
GNE myopathy, a recessive autosomal disease caused by mutations in Glucosamine-(UDP-N-Acetyl)-2-Epimerase/N-Acetylmannosamine Kinase (GNE), is characterized by deficient sialic acid (SA) production and the formation of rimmed vacuoles. Similar to other autophagic vacuolar myopathies, defective autop...
ORGANISM(S): Homo sapiens 
2026-06-30 | GSE300471 | GEO
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