Substantial deficiency of free sialic acid in muscles of patients with GNE myopathy and in a mouse model

Hereditary inclusion-body myopathies

(2015) Aldobrando Broccolini et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Expression of sialic acids in human adult skeletal muscle tissue

(2014) Mirca Marini et al.   ACTA HISTOCHEMICA

Sialylation of Thomsen–Friedenreich antigen is a noninvasive blood-based biomarker for GNE myopathy

(2014) Petcharat Leoyklang et al.   Biomarkers in Medicine

Sialyllactose ameliorates myopathic phenotypes in symptomatic GNE myopathy model mice

(2014) Takahiro Yonekawa et al.   BRAIN

GNE myopathy: current update and future therapy

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

GNE myopathy: New name and new mutation nomenclature

(2014) Marjan Huizing et al.   NEUROMUSCULAR DISORDERS

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

Variable Phenotypes of Knockin Mice Carrying the M712T Gne Mutation

(2012) Ilan Sela et al.   NEUROMOLECULAR MEDICINE

PeracetylatedN-Acetylmannosamine, a Synthetic Sugar Molecule, Efficiently Rescues Muscle Phenotype and Biochemical Defects in Mouse Model of Sialic Acid-deficient Myopathy

(2011) May Christine V. Malicdan et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Analysis of NCAM helps identify unusual phenotypes of hereditary inclusion-body myopathy

(2010) A. Broccolini et al.   NEUROLOGY

Hereditary Inclusion Body Myopathy: A decade of progress

(2009) Marjan Huizing et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Regulation and pathophysiological implications of UDP-GlcNAc 2-epimerase/ManNAc kinase (GNE) as the key enzyme of sialic acid biosynthesis

(2009) Stefan O. Reinke et al.   BIOLOGICAL CHEMISTRY

Hereditary inclusion-body myopathy: Clues on pathogenesis and possible therapy

(2009) Aldobrando Broccolini et al.   MUSCLE & NERVE

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

Mitochondrial processes are impaired in hereditary inclusion body myopathy

(2008) Iris Eisenberg et al.   HUMAN MOLECULAR GENETICS

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

(2008) Aldobrando Broccolini et al.   JOURNAL OF NEUROCHEMISTRY

UDP-N-Acetylglucosamine 2-Epimerase/N-Acetylmannosamine Kinase (GNE) Binds to Alpha-Actinin 1: Novel Pathways in Skeletal Muscle?

(2008) Shira Amsili et al.   PLoS One