Aceneuramic Acid Extended Release Administration Maintains Upper Limb Muscle Strength in a 48-week Study of Subjects with GNE Myopathy: Results from a Phase 2, Randomized, Controlled Study.
Argov, Zohar; Caraco, Yoseph; Lau, Heather; Pestronk, Alan; Shieh, Perry B; Skrinar, Alison; Koutsoukos, Tony; Ahmed, Ruhi; Martinisi, Julia; Kakkis, Emil.
J Neuromuscul Dis
; 3(1): 49-66, 2016 03 03.
Artigo em Inglês | MEDLINE | ID: mdl-27854209
[Therapeutic development for GNE myopathy.]
Safety, pharmacokinetics and sialic acid production after oral administration of N-acetylmannosamine (ManNAc) to subjects with GNE myopathy.
Peracetylated N-acetylmannosamine, a synthetic sugar molecule, efficiently rescues muscle phenotype and biochemical defects in mouse model of sialic acid-deficient myopathy.
Sialic acid supplementation ameliorates puromycin aminonucleoside nephrosis in rats.
[Sialic acid supplementation therapy for distal myopathy with rimmed vacuoles (GNE myopathy)].
Sialyllactose ameliorates myopathic phenotypes in symptomatic GNE myopathy model mice.
[Animal model of distal myopathy with rimmed vacuoles/hereditary inclusion body myopathy and preclinical trial with sugar compounds].
Molecular modeling of methyl-α-Neu5Ac analogues docked against cholera toxin--a molecular dynamics study.
Syntheses of 2-deoxy-2,3-didehydro-N-acetylneuraminic acid analogues modified by α-acylaminoamido groups at the C-4 position using isocyanide-based four-component coupling and biological evaluation as inhibitors of human parainfluenza virus type 1.
[Sialic Acid Replacement Therapy for Distal Myopathy with Rimmed Vacuoles].