Results 61 to 70 of about 417 (116)

Hereditary inclusion body myopathy: novel GNE mutations in non-middle eastern patients [PDF]

, 2010
Autosomal recessive Hereditary Inclusion Body Myopathy (HIBM) is a progressive adult onset skeletal muscle wasting disorder characterized by limb weakness with sparing of the quadriceps.
Saechao, Chai Weun
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Localization of UDP-GlcNAc 2-epimerase/ManAc kinase (GNE) in the Golgi complex and the nucleus of mammalian cells

The bifunctional enzyme UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE) is essential for early embryonic development and catalyzes the rate limiting step in sialic acid biosynthesis. Although epimerase and kinase activities have been
Wiendl H, Mitrani-Rosenbaum S, Hinderlich S, Lochmuller H, Amsili S, Argov Z, Krause S, Horstkorte R   +7 more
core   +5 more sources

ANXA11 mutations are associated with amyotrophic lateral sclerosis-frontotemporal dementia. [PDF]

Front Neurol, 2022
Wang Y, Duan X, Zhou X, Wang R, Zhang X, Cao Z, Wang X, Zhou Z, Sun Y, Peng D.   +9 more
europepmc   +1 more source

Hypoglycosylation of alpha-dystroglycan in patients with hereditary IBM due to GNE mutations

, 2004
Hereditary inclusion body myopathy (HIBM) is an adult onset neuromuscular disorder associated with mutations in the gene UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE), whose product is the rate limiting bi-functional enzyme ...
Goldfarb, L, Gahl, WA, Sparks, SE, Mamali, L, Shatunov, A, Huizing, M, Dalakas, MC, Krasnewich, D, Rakocevic, G   +8 more
core   +1 more source

Autophagy in striated muscle diseases. [PDF]

Front Cardiovasc Med, 2022
Li H, Zhang L, Zhang L, Han R.
europepmc   +1 more source

Revealing the intratumoral heterogeneity of non-DS acute megakaryoblastic leukemia in single-cell resolution. [PDF]

Front Oncol, 2022
Su N, Li Z, Yang J, Fu Y, Zhu X, Miao H, Yu Y, Jiang W, Le J, Qian X, Wang H, Qian M, Zhai X.   +12 more
europepmc   +1 more source

Clinical features, lectin staining, and a novel GNE frameshift mutation in hereditary inclusion body myopathy.

, 2010
Item does not contain fulltextWe present a comprehensive report of two siblings with hereditary inclusion body myopathy (HIBM). The clinical features and histological characteristics of the muscle biopsies showed the typical pattern of predominantly ...
Engelen, B.G.M. van, Voermans, N.C., Lefeber, D.J., Padberg, G.W.A.M., Doedee, R., Lammens, M.M.Y., Huizing, M., Guillard, M., Wevers, R.A.   +8 more
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Inclusion body myositis: Update on the diagnostic and therapeutic landscape. [PDF]

Front Neurol, 2022
Naddaf E.
europepmc   +1 more source

Gene editing with 'pencil' rather than 'scissors' in human pluripotent stem cells. [PDF]

Stem Cell Res Ther, 2023
Park JC, Park MJ, Lee SY, Kim D, Kim KT, Jang HK, Cha HJ.   +6 more
europepmc   +1 more source

Hereditary inclusion body myopathy: single patient response to GNE gene Lipoplex therapy

, 2020
Background Hereditary inclusion body myopathy (HIBM) is an autosomal recessive adult onset myopathy. It is characterized by mutations of the GNE (UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase) gene. Afflicted patients have no therapeutic
Joseph Kuhn, Chris Jay, Justin Poling, Anagha P Phadke, Gregory Nemunaitis, John Nemunaitis, Phillip B Maples, Cynthia Bedell, Marjan Huizing, Neil Senzer, William A Gahl, Nancy S Templeton, Beena O Pappen, Alex W Tong   +13 more
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