Results 21 to 30 of about 2,890 (187)

Hereditary Inclusion Body Myopathy: Single Patient Response to Intravenous Dosing of GNE Gene Lipoplex [PDF]

Human Gene Therapy, 2011
Hereditary inclusion body myopathy (HIBM) is an autosomal recessive adult-onset myopathy due to mutations in the GNE (UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase) gene. Affected patients have no therapeutic options. We have previously demonstrated in preclinical testing the ability to safely correct GNE gene function through ...
Gregory Nemunaitis, Chris Jay, Phillip B. Maples, William A. Gahl, Marjan Huizing, Tal Yardeni, Alex W. Tong, Anagha P. Phadke, Beena O. Pappen, Cynthia Bedell, Henry Allen, Cathy Hernandez, Nancy Smyth Templeton, Joseph A. Kuhn, Neil Senzer, John Nemunaitis   +15 more
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Clinical, pathological and genetic characteristics of GNE myopathy: a single-center observational study [PDF]

BMC Musculoskeletal Disorders
Introduction GNE myopathy is a rare autosomal recessive hereditary myopathy resulting in impaired sialic acid biosynthesis. The features of this condition include distal muscle weakness with relatively preserved quadriceps femoris strength and the ...
Jinliang Deng, Ning Wang, Yuhao Wu, Ziyan Hao, Hongran Wu, Shaojuan Ma, Juyi Liu, Guang Ji, Xueqin Song   +8 more
doaj   +2 more sources

eP017: GNE gene variants associated with thrombocytopenia with or without GNE myopathy [PDF]

Genetics in Medicine, 2022
Jessica Jang, Marjan Huizing, Andrea Bowling, Caitlin Yuan, Nuria Carrillo, William A. Gahl, Francis Rossignol   +6 more
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Preclinical Assessment of wt GNE Gene Plasmid for Management of Hereditary Inclusion Body Myopathy 2 (HIBM2) [PDF]

Gene Regulation and Systems Biology, 2008
Hereditary Inclusion Body Myopathy (HIBM2) is a chronic progressive skeletal muscle wasting disorder which generally leads to complete disability before the age of 50 years. There is currently no effective therapeutic treatment for HIBM2. Development of this disease is related to expression in family members of an autosomal recessive mutation of the ...
Chris Jay, Gregory Nemunaitis, John Nemunaitis, Neil Senzer, Stephan Hinderlich, Daniel Darvish, Julie Ogden, John Eager, Alex Tong, Phillip B. Maples   +9 more
openalex   +4 more sources

A novel variant in the GNE gene in a Malian patient presenting with distal myopathy [PDF]

Neurogenetics
Abstract Background: GNE myopathy (GM) is a rare autosomal recessive disorder caused by variants in the GNE gene and characterized by progressive distal muscle weakness and atrophy. We report a novel variant in theGNE gene causing GM in a consanguineous Malian family. Case presentation: A 19-year-old male patient from a consanguineous family of
Mahamadou Kotioumbé, Alassane Baneye Maīga, Salia Bamba, Lassana Cissé, Salimata Diarra, Salimata Diallo, Abdoulaye Yalcouyé, Fousseyni Kané, Seybou Hassane Diallo, Dramane Coulibaly, Thomas Coulibaly, Kékouta Dembélé, Boubacar Maïga, Cheick O. Guinto, Guida Landouré   +14 more
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Lessons from GNE-deficient embryonic stem cells: sialic acid biosynthesis is involved in proliferation and gene expression [PDF]

Glycobiology, 2009
Sialic acids are widely expressed as terminal carbohydrates on glycoconjugates of eukaryotic cells. They are involved in a variety of cellular functions, such as cell adhesion or signal recognition. The key enzyme of sialic acid biosynthesis is the bifunctional UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE), which catalyzes the ...
Wenke Weidemann, Christian Klukas, Andreas Klein, Andreas Simm, Falk Schreiber, Rüdiger Horstkorte   +5 more
openalex   +3 more sources

Deciphering the role of acetylation-related gene NAT10 in colon cancer progression and immune evasion: implications for overcoming drug resistance [PDF]

Discover Oncology
Background Colon cancer (CC) is one of the most common and lethal cancers worldwide, with rising incidence rates in both developed and developing countries.
Xuancheng Zhou, Xun Sang, Lai Jiang, Shengke Zhang, Chenglu Jiang, Yuheng Gu, Yipin Fu, Guanhu Yang, Jieyin Zhang, Hao Chi, Binbin Wang, Xiaolin Zhong   +11 more
doaj   +2 more sources

[<i>GNE</i> gene-related thrombocytopenia: a case report and literature review]. [PDF]

Zhongguo Dang Dai Er Ke Za Zhi
Lin S, Chen XJ.
europepmc   +3 more sources

Human Enterovirus D68 infection – the intricate dance of cells, genes, and invading bugs [PDF]

Frontiers in Cellular and Infection Microbiology
The respiratory tract is particularly vulnerable to infections from various pathogens, often leading to severe illnesses. Co-infections involving multiple pathogens are commonly observed in respiratory diseases, although their underlying mechanisms ...
Hanne Lillerovde Ørstenvik, Ann-Kristin Tveten, Yanran Cao   +2 more
doaj   +2 more sources

Human induced pluripotent stem cell line (FDHSi005-A) derived from a patient with a deep intronic variant in the GNE gene

Stem Cell Research
GlcNAc2-epimerase myopathy is a rare autosomal recessive myopathy characterized by distal involvement in the lower extremities. Our study reprogrammed human-induced pluripotent stem cells from peripheral blood mononuclear cells of a patient with GNE gene
Kexin Jiao, Jialong Zhang, Ningning Wang, Xingyu Gu, Xuechun Chang, Xingyu Xia, Bochen Zhu, Mingshi Gao, Nachuan Cheng, Chongbo Zhao, Jianying Xi, Wenhua Zhu   +11 more
doaj   +2 more sources