Journal of Research in Medical Sciences, 2014 Hereditary inclusion body myopathy (hIBM) is an adult-onset hereditary myopathy, usually with distal onset and quadriceps sparing. This myopathy is autosomal recessive and associated to UPD-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE)
Mahdiyeh Behnam +5 more
doaj
Molecular cell stress mechanisms in hereditary inclusion body myopathy
, 2012 Mutationen im UDP-N-acetylglucosamine-2-epimerase/Nacetylmannosaminekinase (GNE)-Gen sind die kausale Pathogenese bei der hereditären Einschlusskörpermyopathie (hIBM) (Synonym: Nonaka Disease, distal myopathy with rimmed vacuoles [DMRV]).
Fischer, Charlotte Viola
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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 myopathy [PDF]
, 2004 Hereditary inclusion body myopathy (HIBM) is a neuromuscular disorder, caused by mutations in UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase, the key enzyme of sialic acid biosynthesis.
Menachem Sadeh +21 more
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, 2018 Distal myopathy with rimmed vacuoles/hereditary inclusion body myopathy (DMRV/hIBM), characterized by progressive muscle atrophy, weakness, and degeneration, is due to mutations in GNE, a gene encoding a bifunctional enzyme critical in sialic acid ...
Nonaka, Ikuya +6 more
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Knowledge and Attitudes Towards Hereditary Inclusion Body Myopathy and Genetic Carrier Screening [PDF]
, 2016 Includes bibliographical references (pages 79-93)ABSTRACT Knowledge and Attitudes Towards Hereditary Inclusion Body Myopathy and Genetic Carrier Screening By Caroline S. Hebron Master of Public Health in Health Education Hereditary inclusion body
Hebron, Caroline
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A study of human disorders in the sialic acid synthesis pathway
, 2011 GNE is a bifunctional enzyme responsible for the first committed, rate limiting step in the synthesis of sialic acid, the most common terminal monosaccharide in cellular glycosylation.
Patzel, Katherine A
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Editorial for the Genetics of Muscular Dystrophies from the Pathogenesis to Gene Therapy Special Issue. [PDF]
Genes (Basel), 2023 Politano L, Santorelli FM.
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Immunofluorescence shows AβPP and p-tau aggregates and molecule chaperones in GNE myopathy muscle.
, 2013 Single-label immunofluorescence illustrates strongly immunoreactive aggregates of AβPP (a1) in GNE myopathy, nonspecific staining in muscle interstitial of normal control (a2), aggregates of p-tau (a3) in GNE myopathy and nonspecific staining in muscle ...
Shuping Liu (385280) +8 more
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Inclusion body myositis: from genetics to clinical trials. [PDF]
J Neurol, 2023 Nagy S, Khan A, Machado PM, Houlden H.
europepmc +1 more source
Myosin Myopathy Presenting as Chronic Progressive External Ophthalmoplegia. [PDF]
Ann Indian Acad Neurol, 2023 Maniyar AMH +5 more
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