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ASAH1 encodes a heterodimeric protein consisting of a nonglycosylated alpha subunit and a glycosylated beta subunit that is cleaved to the mature enzyme posttranslationally. Zusätzlich bieten wir Ihnen N-Acylsphingosine Amidohydrolase (Acid Ceramidase) 1 Antikörper (67) und N-Acylsphingosine Amidohydrolase (Acid Ceramidase) 1 Proteine (12) und viele weitere Produktgruppen zu diesem Protein an.
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ASAH1 variant Leu401Pro co-segregates with keloid phenotype in a large Yoruba family.
We report an atypical presentation of Farber disease with her pathology and associated genetic defect. This case expands the phenotypic spectrum of Farber disease to include novel mutations of ASAH1, which pose a diagnostic challenge.
This study describes for the first time the association between ASAH1 variants and an adult SMA (zeige SMN1 ELISA Kits) phenotype with no myoclonic epilepsy nor death in early age, thus expanding the phenotypic spectrum of ASAH1-related SMA (zeige SMN1 ELISA Kits).
Our findings indicate that hypomorphic mutations in ASAH1 may result in an osteoarticular phenotype with a juvenile phase resembling rheumatoid arthritis that evolves to osteolysis as the final stage in the absence of neurologic signs. This observation delineates a novel type of recessively inherited peripheral osteolysis and illustrates the long-term skeletal manifestations of acid ceramidase deficiency (Farber's disease
The present report describes a 9-year-old girl with novel clinical phenotype of a patient with polyarticular arthritis followed by symptoms of SMA due to acid ceramidase deficiency. Whole exome sequencing identified compound heterozygous pathogenic mutation in the N-acylsphingosine amidohydrolase 1 gene.
Data suggest up-regulation of ASAH1 activity by androgen in androgen-sensitive prostate cancer cells (not other cancer cells) is due to prolonged stability of ASAH1 by androgen-stimulated induction of USP2 (ubiquitin specific peptidase 2 (zeige USP2 ELISA Kits)) expression.
Genetic or pharmacological acid ceramidase inhibition promotes cisplatin cytotoxicity in head and neck tumor cells.
high ASAH1 expression is generally associated with an improved prognosis in invasive breast cancer independent of adjuvant treatment and could also be valuable as prognostic factor for pre-invasive DCIS.
novel ASAH1 mutations affecting polypyrimidine tract deletion, and exon skipping and resulting in Farber lipogranulomatosis
Acid ceramidase promotes nuclear export of PTEN through sphingosine 1-phosphate mediated Akt (zeige AKT1 ELISA Kits) signaling.
cells deficient in acid ceramidase (aCDase) also exhibited defects in CCL5 (zeige CCL5 ELISA Kits) induction, whereas cells deficient in sphingosine kinase-1 (zeige SPHK1 ELISA Kits) and -2 exhibited higher levels of CCL5 (zeige CCL5 ELISA Kits).
biochemistry of acid ceramidase reaction with acid sphingomyelinase (zeige SMPD1 ELISA Kits)
Acid and neutral sphingomyelinase (zeige SMPD2 ELISA Kits), ceramide synthase, and acid ceramidase have roles in cutaneous aging
These results provide the first characterization of the Acid Ceremidase promoter from any species and demonstrate that Kruppel-like factor 6 (KLF6 (zeige KLF6 ELISA Kits)) is one transcription factor involved in the regulation of AC gene expression.
acid ceramidase is an essential factor required for embryo survival that functions by removing ceramide from the newly formed embryos, thus inhibiting the default apoptosis pathway
This gene encodes a heterodimeric protein consisting of a nonglycosylated alpha subunit and a glycosylated beta subunit that is cleaved to the mature enzyme posttranslationally. The encoded protein catalyzes the synthesis and degradation of ceramide into sphingosine and fatty acid. Mutations in this gene have been associated with a lysosomal storage disorder known as Farber disease. Multiple transcript variants encoding several distinct isoforms have been identified for this gene.
, acid ceramidase
, acylsphingosine deacylase
, putative 32 kDa heart protein
, Acylsphingosine deacylase
, N-acylsphingosine amidohydrolase 1
, N-acylsphingosine amidohydrolase (acid ceramidase) 1