Results 121 to 130 of about 7,033 (216)
ASAH2 deficiency affects sphingolipid homeostasis and neuromotor control, causing a progressive neurological disorder. [PDF]
HGG AdvScala M +10 more
europepmc +1 more source
Acid ceramidase ASAH1 is a key regulator of epidermal ceramide levels and composition. [PDF]
J Biol ChemNobumoto W +5 more
europepmc +1 more source
Background and ObjectivesSpinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) due to acid ceramidase deficiency is a rare disorder, allelic with Farber disease, resulting from recessive ASAH1 variants. Patients present in early childhood with muscle weakness due to anterior horn degeneration and/or progressive drug-resistant myoclonic ...
Cuinat, Silvestre +16 more
openaire +1 more source
Deciphering Neutral Ceramidase-Dependent Mechanism of Response to Aromatic Fungicides Stress in <i>Neurospora crassa</i>. [PDF]
J Fungi (Basel)Chen P +8 more
europepmc +1 more source
Acid ceramidase expression and biomarker potential in patients with locally advanced rectal cancer. [PDF]
Biomol BiomedBjelanovic J +4 more
europepmc +1 more source
Sphingosine-1-Phosphate Regulation to Alleviate Sickle Cell Disease Severity: A Promising Therapeutic Approach. [PDF]
Saudi Med JChathoth S.
europepmc +1 more source
Evolutionary diversity of sphingolipid metabolism proteins in fungi. [PDF]
IMA FungusPłecha M +8 more
europepmc +1 more source
Sphingolipids in Gaucher disease: a systematic review. [PDF]
Orphanet J Rare DisLake A, Fuller M.
europepmc +1 more source