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Ubiquitous Neural Cell Adhesion Molecule (NCAM): Potential Mechanism and Valorisation in Cancer Pathophysiology, Drug Targeting and Molecular Transductions
Neural cell adhesion molecule, an integrated molecule of immunoglobulin protein superfamily involved in cell-cell adhesion, undergoes various...
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Exome sequencing identifies novel and known mutations in families with intellectual disability
BackgroundIntellectual disability (ID) is a phenotypically and genetically heterogeneous disorder.
MethodsIn this study, genome wide SNP microarray...
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A Dominant C150Y Mutation in FHL1 Induces Structural Alterations in LIM2 Domain Causing Protein Aggregation In Human and Drosophila Indirect Flight Muscles
FHL1-related myopathies are rare X-linked dominant myopathies. Though clinically classified into several subgroups, spinal and scapuloperoneal muscle...
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GNE Myopathy: Etiology, Diagnosis, and Therapeutic Challenges
GNE myopathy, previously known as hereditary inclusion body myopathy (HIBM), or Nonaka myopathy, is a rare autosomal recessive muscle disease...
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Generation and Characterization of a Skeletal Muscle Cell-Based Model Carrying One Single Gne Allele: Implications in Actin Dynamics
UDP-N-Acetyl glucosamine-2 epimerase/N-acetyl mannosamine kinase (GNE) catalyzes key enzymatic reactions in the biosynthesis of sialic acid. Mutation...
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GNE myopathy in Chinese population: hotspot and novel mutations
GNE myopathy is a rare autosomal recessive distal myopathy caused by mutations in UDP- N -acetylglucosamine 2-epimerase/ N -acetylmannosamine kinase...
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Past, Present, and Future Perspective of Targeting Myostatin and Related Signaling Pathways to Counteract Muscle Atrophy
Myostatin was identified more than 20 years ago as a negative regulator of muscle mass in mice and cattle. Since then, a wealth of studies have...
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GNE Myopathy and Cell Apoptosis: A Comparative Mutation Analysis
In a number of genetic disorders such as GNE myopathy, it is not clear how mutations in target genes result in disease phenotype. GNE myopathy is a...
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Sialylation of N-glycans: mechanism, cellular compartmentalization and function
Sialylated N-glycans play essential roles in the immune system, pathogen recognition and cancer. This review approaches the sialylation of N-glycans...
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The Interaction of UDP-N-Acetylglucosamine 2-Epimerase/N-Acetylmannosamine Kinase (GNE) and Alpha-Actinin 2 Is Altered in GNE Myopathy M743T Mutant
UDP- N -acetylglucosamine 2-epimerase/ N -acetylmannosamine kinase (GNE) is the gene mutated in GNE myopathy. In an attempt to elucidate GNE functions...
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Genetics of GNE myopathy in the non-Jewish Persian population
GNE myopathy is an autosomal recessive adult-onset disorder characterized by progressive muscle atrophy and weakness, initially involving the distal...
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Role of UDP-N-Acetylglucosamine2-Epimerase/N-Acetylmannosamine Kinase (GNE) in β1-Integrin-Mediated Cell Adhesion
Hereditary inclusion body myopathy (GNE myopathy) is a neuromuscular disorder due to mutation in key sialic acid biosynthetic enzyme, GNE. The...
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Correction of the Middle Eastern M712T Mutation Causing GNE Myopathy by Trans-Splicing
GNE myopathy is a rare neuromuscular autosomal recessive disease, resulting from mutations in the gene UDP N -acetylglucosamine 2-epimerase/ N -acetylman...
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Variable Phenotypes of Knockin Mice Carrying the M712T Gne Mutation
GNE myopathy is a recessive adult onset, slowly progressive distal and proximal myopathy, caused by mutations in the GNE gene. The most frequent...
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Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE
BackgroundMany myopathies share clinical features in common, and diagnosis often requires genetic testing. We ascertained a family in which five...
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Genetic screening in the Persian Jewish community: A pilot study
Purpose: Israeli investigators have identified several relatively frequent disorders due to founder point mutations in Persian (Iranian) Jews, who,...
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Prophylactic treatment with sialic acid metabolites precludes the development of the myopathic phenotype in the DMRV-hIBM mouse model
Distal myopathy with rimmed vacuoles (DMRV)–hereditary inclusion body myopathy (hIBM) is an adult-onset, moderately progressive autosomal recessive...
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Gene therapy for myositis
The inflammatory myopathies, polymyositis (PM), dermatomyositis (DM) and inclusion body myositis (IBM), lead to moderate to severe muscle weakness...
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The hereditary inclusion body myopathy enigma and its future therapy
Hereditary inclusion body myopathy (HIBM) is a genetic muscle disease due to mutations in the gene encoding the enzyme complex UDP- N -acetylglucosamine...
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