Results 101 to 110 of about 1,067 (171)

Targeting GNE myopathy: A dual prodrug approach for the delivery of N-acetylmannosamine 6-phosphate [PDF]

, 2019
ProTides comprise an important class of prodrugs currently marketed and developed as antiviral and anticancer therapies. The ProTide technology employs phosphate masking groups capable of providing more favorable druglike properties and an intracellular ...
Carbajo, Rosangela, Crutcher, Patrick, Pertusati, Fabrizio, Valles-Ayoub, Yadira, Sedláková, Jana, Morozzi, Chiara, Serpi, Michaela, Thomas, Stephen, Sandoval, Lucia, Avigliano, Marialuce   +9 more
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Overlapping phenotype of GNE myopathy and dystrophinopathy: a rare case with dual variants from India

Journal of Rare Diseases
Purpose Distal myopathies are rare neuromuscular disorders, among which GNE myopathay (also known as Nonaka myopathy) results from autosomal recessive mutations in the GNE [glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase] gene, while ...
Tamali Halder, Deepika Joshi, Parimal Das   +2 more
doaj   +1 more source

Immunoblots and relative mRNA levels of VCP and linkers between UPS and autophagy in control and GNE myopathy muscle biopsies.

, 2013
The densitometry graphs are representative of only the one chosen in the corresponding blots. A: Immunoblots of muscle homogenates of normal control and GNE myopathy muscle biopsies demonstrate in GNE myopathy a much stronger expression of HDAC6, p62 ...
Shuping Liu (385280), Wei Li (7081), Chuanzhu Yan (385282), Xuemei Zhang (89768), Fuchen Liu (385279), Qi Chen (144168), Yuying Zhao (385281), Honghao Li (385278), Yaoqin Gong (164943)   +8 more
core   +1 more source

An Italian family with autosomal recessive inclusion-body myopathy and mutations in the GNE gene

, 2002
An Italian family with autosomal recessive inclusion-body myopathy and mutations in the GNE ...
Servidei, Serenella, D'Amico, Adele, Ricci, Enzo, Silvestri, Gabriella, Broccolini, Aldobrando, Mirabella, Massimiliano   +5 more
core   +1 more source

Immunoblots and relative mRNA levels of of endoplasmic reticulum molecular chaperones in normal control and GNE myopathy muscle biopsies.

, 2013
A: Immunoblots of muscle homogenates of two normal control and five GNE myopathy muscle biopsies demonstrate in GNE myopathy a much stronger expression of GRP94, GRP78, calnexin and calreticulin except for ERp72 as compared to control muscle biopsies. C =
Shuping Liu (385280), Wei Li (7081), Chuanzhu Yan (385282), Xuemei Zhang (89768), Fuchen Liu (385279), Qi Chen (144168), Yuying Zhao (385281), Honghao Li (385278), Yaoqin Gong (164943)   +8 more
core   +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
core  

The frequent variant A57F in the GNE gene in patients from Russia has Finno-Ugric Mari origin

Frontiers in Genetics
IntroductionGNE-myopathy is a distal myopathy with adult-onset and initial involvement of anterior leg compartment. A founder effect has been demonstrated for some patients from several large cohorts in different countries.MethodsIn this study, we ...
Dmitrii Subbotin, Sofya Ionova, Andrey Marakhonov, Elena Saifullina, Artem Borovikov, Leila Akhmadeeva, Polina Chausova, Oksana Ryzhkova, Rena Zinchenko, Sergey Kutsev, Aysylu Murtazina   +10 more
doaj   +1 more source

GNE myopathy [PDF]

, 2020
openaire   +1 more source

Results from a 3-year Non-interventional, Observational Disease Monitoring Program in Adults with GNE Myopathy [PDF]

Background: GNE myopathy is a rare, autosomal recessive, muscle disease caused by mutations in GNE and is characterized by rimmed vacuoles on muscle biopsy and progressive distal to proximal muscle weakness.
Horváth R, Bedrosian C, Behin A, Pogoryelova O, Lochmüller H, Kakkis E, Tournev I, Mozaffar T, Koutsoukos T, Skrinar A, Tarnopolsky M, Shah J   +11 more
core  

The Role of intracellular amyloid β-peptide in the pathophysiology of GNE myopathy and Alzheimer's disease [PDF]

, 2015
The Amyloid β-peptide (Aβ) is accumulated in several diseases including GNE myopathy and Alzheimer’s disease (AD). GNE myopathy is a skeletal muscle disorder caused by biallelic mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine ...
Bosch Morató, Mònica, 1986-, Bosch Morató, Mònica   +1 more
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