Safety and efficacy of N-acetylmannosamine (ManNAc) in patients with GNE myopathy: an open-label phase 2 study

Population Pharmacokinetic Model of N-acetylmannosamine (ManNAc) and N-acetylneuraminic acid (Neu5Ac) in Subjects with GNE Myopathy

(2021) Scott Van Wart et al.   DRUGS IN R&D

Glycosylation in health and disease

(2019) Colin Reily et al.   Nature Reviews Nephrology

Quantitation of cytidine‐5’‐monophospho‐N‐acetylneuraminic acid in human leukocytes using LC‐MS/MS: method development and validation

(2019) Meng Fang et al.   BIOMEDICAL CHROMATOGRAPHY

Quantification of lectin fluorescence in GNE myopathy muscle biopsies

(2018) Petcharat Leoyklang et al.   MUSCLE & NERVE

Role of IGF-1R in ameliorating apoptosis of GNE deficient cells

(2018) Reema Singh et al.   Scientific Reports

GNE Myopathy: Etiology, Diagnosis, and Therapeutic Challenges

(2018) Nuria Carrillo et al.   Neurotherapeutics

Bayesian model of disease progression in GNE myopathy

(2018) M. Quintana et al.   STATISTICS IN MEDICINE

Sialic acid deficiency is associated with oxidative stress leading to muscle atrophy and weakness in GNE myopathy

(2017) Anna Cho et al.   HUMAN MOLECULAR GENETICS

ST6Gal-I sialyltransferase promotes tumor necrosis factor (TNF)-mediated cancer cell survival via sialylation of the TNF receptor 1 (TNFR1) death receptor

(2017) Andrew T. Holdbrooks et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Safety, pharmacokinetics and sialic acid production after oral administration of N -acetylmannosamine (ManNAc) to subjects with GNE myopathy

(2017) Xin Xu et al.   MOLECULAR GENETICS AND METABOLISM

Quantitative hydrophilic interaction chromatography–mass spectrometry analysis of N-acetylneuraminic acid and N-acetylmannosamine in human plasma

(2015) Yifan Shi et al.   JOURNAL OF CHROMATOGRAPHY B-ANALYTICAL TECHNOLOGIES IN THE BIOMEDICAL AND LIFE SCIENCES

Muscle wasting in disease: molecular mechanisms and promising therapies

(2015) Shenhav Cohen et al.   NATURE REVIEWS DRUG DISCOVERY

Reliability of the Adult Myopathy Assessment Tool in Individuals With Myositis

(2015) Michael O. Harris-Love et al.   ARTHRITIS CARE & RESEARCH

GNE myopathy: current update and future therapy

(2014) Ichizo Nishino et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Oral monosaccharide therapies to reverse renal and muscle hyposialylation in a mouse model of GNE myopathy

(2012) Terren K. Niethamer et al.   MOLECULAR GENETICS AND METABOLISM

Lessons from GNE-deficient embryonic stem cells: sialic acid biosynthesis is involved in proliferation and gene expression

(2009) Wenke Weidemann et al.   GLYCOBIOLOGY

Prophylactic treatment with sialic acid metabolites precludes the development of the myopathic phenotype in the DMRV-hIBM mouse model

(2009) May Christine V Malicdan et al.   NATURE MEDICINE

TNF-α acts via TNFR1 and muscle-derived oxidants to depress myofibrillar force in murine skeletal muscle

(2008) Brian J. Hardin et al.   JOURNAL OF APPLIED PHYSIOLOGY

Hyposialylation of neprilysin possibly affects its expression and enzymatic activity in hereditary inclusion-body myopathy muscle

(2008) Aldobrando Broccolini et al.   JOURNAL OF NEUROCHEMISTRY