Hereditary inclusion body myopathy (HIBM) is an adult onset, slowly progressive distal and proximal myopathy. Although the causing gene, GNE, encodes for a key enzyme in the biosynthesis of sialic acid, its primary function in HIBM remains unknown. To elucidate the pathological mechanisms leading from the mutated GNE to the HIBM phenotype, we attempted to identify and characterize early occurri...

The authors found that the neural cell adhesion molecule (NCAM) is hyposialylated in hereditary inclusion body myopathy (HIBM) muscle, as suggested by its decreased molecular weight by Western blot. This abnormality represented the only pathologic feature differentiating HIBM due to GNE mutations from other myopathies with similar clinical and pathologic characteristics. If further confirmed in...

INTRODUCTION Hereditary inclusion body myopathy (hIBM) refers to a group of clinically and genetically heterogeneous diseases. The overlapping histochemical features of hIBM with other genetic disorders lead to low diagnostic rates with targeted single-gene sequencing. This is true for the most prevalent form of hIBM, GNEpathy. Therefore, we used whole-exome sequencing (WES) to determine whethe...

Hereditary inclusion body myopathy (HIBM) is a unique disorder of unknown etiology that typically occurs in individuals of Persian Jewish descent. Distinguishing features of the disorder from other limb girdle myopathies include elderly age of onset, ethnic predisposition, and sparing of the quadriceps despite severe involvement of all other proximal leg muscles. Involved muscles demonstrate fi...

Hereditary inclusion body myopathy (HIBM) is an adult onset, slowly progressive distal and proximal myopathy. Although the causing gene, GNE, encodes for a key enzyme in the biosynthesis of sialic acid, its primary function in HIBM remains unknown. The goal of this study was to unravel new clues on the biological pathways leading to HIBM by proteomic comparison. Muscle cultures and biopsies wer...

Distal myopathy with rimmed vacuoles (DMRV), also called hereditary inclusion body myopathy (hIBM), is a moderately progressive hereditary muscle disorder affecting young adults. DMRV/hIBM is characterized clinically by muscle atrophy and weakness initially involving the distal muscles, and pathologically by the presence of small angular fibers, formation of rimmed vacuoles and deposition of va...

Distal myopathy with rimmed vacuoles (DMRV) or hereditary inclusion body myopathy (hIBM) is an early adult-onset distal myopathy caused by mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene which encodes for a bifunctional enzyme involved in sialic acid biosynthesis. It is pathologically characterized by the presence of rimmed vacuoles (RVs), especially i...

How frequently are computer jobs submitted to an industrial-scale datacenter? We investigate the trace that contains job requests and execution collected in one of large-scale industrial datacenters, which spans near half of a Terabyte. In this paper, we discover and explain two surprising patterns with respect to the inter-arrival time (IAT) of job requests: (a) multiple periodicities and (b) ...

How frequently are computer jobs submitted to an industrial-scale datacenter? We investigate the trace that contains job requests and execution collected in one of large-scale industrial datacenters, which spans near half of a Terabyte. In this paper, we discover and explain two surprising patterns with respect to the inter-arrival time (IAT) of job requests: (a) multiple periodicities and (b) ...

BACKGROUND Hereditary Inclusion Body Myopathy (HIBM) is an autosomal recessive, adult onset, non-inflammatory neuromuscular disorder with no effective treatment. The causative gene, GNE, codes for UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase, which catalyzes the first two reactions in the synthesis of sialic acid. Reduced sialylation of muscle glycoproteins, such as alpha-dyst...