COS cell expression studies of P86L, P86R, P480L and P480Q Hunter's disease-causing mutations

AbstractThree missense mutations identified in the IDS gene of our Hunter's disease patients (P86L, P480L and P480Q) and the previously described P86R mutation were expressed in COS cells to evaluate their functional consequence on iduronate-2-sulfatase (IDS) activity and processing. The 86-proline residue belongs to the highly conserved pentapeptide C-X-P-S-R in which cysteine modification to a formylglycine is required for sulfatase activity. The substitution of the 86-proline residue led to a severe mutation as no mature form was targeted to the lysosome in agreement with the severe phenotype observed in patients carrying P86L and P86R mutations. Expression studies with P480L and P480Q mutant cDNAs showed the presence of a small amount of 55 kDa mature form in the lysosomes of transfected COS cells. IDS activity of the P480L and P480Q mutants in cell extracts represents 16.6% and 5.4% of the wild-type, respectively

Anomalies d'épissage dans les troubles du rythme et cardiomyopathies d'origine génétique (travail effectué dans le laboratoire de Cardiogénétique Moléculaire [du] Professeur Rousson, Centre de Biologie et Pathologie Est [des] Hospices Civils de Lyon)

LYON1-BU Santé (693882101) / SudocSudocFranceF

Régulation fonctionnelle des récepteurs à la mélatonine

National audienc

Ovine melatonin receptors (MT1 and MT2): Functional activity and potential role in the pineal gland

National audienc

Role of melatonin receptors (MT1 and MT2) in the ovine pineal gland.

International audienc

Régulation de la synthèse de la mélatonine par les récepteurs à la mélatonine

National audienc

Regulation of ovine melatonin receptors (MT1, MT2) activity in pinealocytes and glial cells

National audienc

Functional activity of ovine melatonin receptors (MT1 and MT2) in pineal gland

National audienc