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When the enzyme adenosine deaminase is deficient in the body, the result is a toxic build-up of metabolites that impair lymphocyte development and function. [9] Many ADA deficient children with SCID have been treated with the polyethylene glycol-conjugated adenosine deaminase (PEG-ADA) enzyme.
PDE5 inhibitors have shown promise in the treatment of heart failure with reduced ejection fraction through several beneficial effects on lung vasculature, cardiac remodelling and diastolic function. [3] A study showed that effective treatment of pulmonary arterial hypertension with sildenafil improved functional capacity and reduced right ...
A cholinesterase inhibitor (or "anticholinesterase") suppresses the action of the enzyme. Because of its essential function, chemicals that interfere with the action of cholinesterase are potent neurotoxins, causing excessive salivation and eye-watering in low doses, followed by muscle spasms and ultimately death (examples are some snake venoms ...
Adenosine monophosphate deaminase deficiency type 1 or AMPD1, is a human metabolic disorder in which the body consistently lacks the enzyme AMP deaminase, [1] in sufficient quantities. This may result in exercise intolerance, muscle pain and muscle cramping. The disease was formerly known as myoadenylate deaminase deficiency (MADD).
Myophosphorylase or glycogen phosphorylase, muscle associated (PYGM) is the muscle isoform of the enzyme glycogen phosphorylase and is encoded by the PYGM gene. This enzyme helps break down glycogen (a form of stored carbohydrate ) into glucose-1-phosphate (not glucose ), so it can be used within the muscle cell .
The gene was first reported by two independent research groups Aaltonen et al. and Nagamine et al. in 1997 who were able to isolate and clone the gene from human chromosome 21q22.3. Their work was able to show that mutations in the AIRE gene are responsible for the pathogenesis of Autoimmune polyglandular syndrome type I. [ 5 ] [ 8 ] More ...
Myozyme (alglucosidase alfa) is a recombinant form of the human enzyme acid alpha-glucosidase, and is also currently being used to replace the missing enzyme. In a study [23] which included the largest cohort of patients with Pompe disease treated with enzyme replacement therapy (ERT) to date findings showed that Myozyme treatment clearly ...
7172 22017 Ensembl ENSG00000137364 ENSMUSG00000021376 UniProt P51580 O55060 RefSeq (mRNA) NM_000367 NM_001346817 NM_001346818 NM_016785 RefSeq (protein) NP_000358 NP_001333746 NP_001333747 NP_058065 Location (UCSC) Chr 6: 18.13 – 18.16 Mb Chr 13: 47.18 – 47.2 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Thiopurine methyltransferase or thiopurine S-methyltransferase (TPMT) is ...