Hereditary Inclusion Body Myopathy: A decade of progress
- 30 September 2009
- journal article
- review article
- Published by Elsevier BV in Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
- Vol. 1792 (9), 881-887
- https://doi.org/10.1016/j.bbadis.2009.07.001
Abstract
No abstract availableKeywords
This publication has 78 references indexed in Scilit:
- UDP-N-Acetylglucosamine 2-Epimerase/N-Acetylmannosamine Kinase (GNE) Binds to Alpha-Actinin 1: Novel Pathways in Skeletal Muscle?PLOS ONE, 2008
- Prediction of three different isoforms of the human UDP‐N‐acetylglucosamine 2‐epimerase/N‐acetylmannosamine kinaseFEBS Letters, 2007
- Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamineJCI Insight, 2007
- Sizing up sialic acid in glomerular diseaseJCI Insight, 2007
- Influence of UDP-GlcNAc 2-Epimerase/ManNAc Kinase Mutant Proteins on Hereditary Inclusion Body MyopathyBiochemistry, 2006
- Mutation analysis of the GNE gene in Korean patients with distal myopathy with rimmed vacuolesJournal of Human Genetics, 2005
- Phenotypic variability in a Chinese family with rimmed vacuolar distal myopathyJournal of Neurology, Neurosurgery & Psychiatry, 2005
- No overall hyposialylation in hereditary inclusion body myopathy myoblasts carrying the homozygous M712T GNE mutationBiochemical and Biophysical Research Communications, 2005
- The homozygous M712T mutation of UDP‐N‐acetylglucosamine 2‐epimerase/N‐acetylmannosamine kinase results in reduced enzyme activities but not in altered overall cellular sialylation in hereditary inclusion body myopathyFEBS Letters, 2004
- Hereditary disorders among Iranian JewsAmerican Journal of Medical Genetics, 1995