Deficient phosphorylation of mannose residues of mannan in fibroblasts of patients with mucolipidoses II and III.
Incorporation of 32P from [gamma 32P]ATP into mannan could not be detected in homogenates of cultivated skin fibroblasts from patients with mucolipidosis II, and accounted for only up to 10% of normal control activity in cell lysates from patients with mucolipidosis III. Parents of patients with mucolipidosis II demonstrated 60-70% of normal control activity. On high-voltage electrophoresis, the hydrolysed mannan from reactions performed with normal cells, over the pH range 5.5-7.5, yielded a radioactive band migrating with the same mobility as mannose 6-phosphate, whereas no such product could be demonstrated in fibroblasts of patients with mucolipidosis II.
D002478:Cells, Cultured; D004590:Electrophoresis, Paper; D005347:Fibroblasts / Q000378:metabolism; D005947:Glucose / Q000378:metabolism; D006801:Humans; D008351:Mannans / Q000378:metabolism*; D008358:Mannose / Q000378:metabolism*; D009081:Mucolipidoses / Q000378:metabolism*; D010766:Phosphorylation; D011134:Polysaccharides / Q000378:metabolism*; D012867:Skin / Q000378:metabolism
D008351:Mannans; D011134:Polysaccharides; D005947:Glucose; D008358:Mannose