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A disintegrin and metalloprotease 17 (ADAM17), also called TACE (tumor necrosis factor-α-converting enzyme), is a 70-kDa enzyme that belongs to the ADAM protein family of disintegrins and metalloproteases, activated by substrate presentation.
ADAMs (short for a disintegrin and metalloproteinase) are a family of single-pass transmembrane and secreted metalloendopeptidases. [1] [2] All ADAMs are characterized by a particular domain organization featuring a pro-domain, a metalloprotease, a disintegrin, a cysteine-rich, an epidermal-growth factor like and a transmembrane domain, as well as a C-terminal cytoplasmic tail. [3]
GLUT1 deficiency syndrome, also known as GLUT1-DS, De Vivo disease or Glucose transporter type 1 deficiency syndrome, is an autosomal dominant genetic metabolic disorder associated with a deficiency of GLUT1, the protein that transports glucose across the blood brain barrier. [1]
MICPCH in males may occur with or without severe epileptic encephalopathy (Ohtahara syndrome, West syndrome, or early myoclonic epilepsy) in addition to severe-to-profound developmental delay. When seizures are present, they occur early and may be intractable. [7] Prognosis is poor for males with this condition. [8]
Snyder–Robinson syndrome (SRS) is an extremely rare inherited genetic disorder [1] characterized by muscular and skeletal abnormalities, varying degrees of intellectual disability, seizures, [2] and slow development. [3] SRS is caused by a mutated SMS gene at chromosome Xp21.3-p22.12, which carries instructions for producing the enzyme ...
The prognosis can vary wildly for CII deficiency: In those who present earlier, the prognosis is worse, and especially for the biallelic form, few reach the age of 4. [1] Those presenting with Leigh syndrome or greater neurological involvement have worse outcomes. In severe cases where multiple organ systems are affected, death can occur in ...
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Adenylosuccinate lyase deficiency is responsible for a range of symptoms that involve psychomotor retardation, often accompanied by epileptic seizures, and autistic features. Two common theories were proposed to account for these effects, the first is that they result from decreased concentrations of purine nucleotides needed for purine ...