Results 31 to 40 of about 15,103 (215)

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
  +6 more sources

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

Aeromonas hydrophila flagella glycosylation: involvement of a lipid carrier.

PLoS ONE, 2014
Polar flagellin proteins from Aeromonas hydrophila strain AH-3 (serotype O34) were found to be O-glycosylated with a heterogeneous glycan. Mutants unable to produce WecP or Gne enzymes showed altered motility, and the study of their polar flagellin ...
Susana Merino, Kelly M Fulton, Susan M Twine, Markus Wilhelms, Raquel Molero, Juan M Tomás   +5 more
doaj   +4 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 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

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

PB0357 Hereditary Thrombocytopenia with Platelet Sialic Acid Deficiency and Mutations in the GNE Genes

Research and Practice in Thrombosis and Haemostasis, 2023
Caitlin Montcrieff, Karen Ferreira, Tracey A. Cheves, Lauren Massingham, Joseph D. Sweeney   +4 more
openalex   +2 more sources

Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE) [PDF]

Journal of Human Genetics, 2002
Tomohiko Kayashima, Hidenori Matsuo, Akira Satoh, Tohru Ohta, Koh-ichiro Yoshiura, Naomichi Matsumoto, Y. Nakane, Norio Niikawa, Tatsuya Kishino   +8 more
openalex   +3 more sources

Heterozygous UDP-GlcNAc 2-epimerase and N-acetylmannosamine kinase domain mutations in the GNE gene result in a less severe GNE myopathy phenotype compared to homozygous N-acetylmannosamine kinase domain mutations

Journal of the Neurological Sciences, 2012
Madoka Mori‐Yoshimura, Kazunari Monma, Naoki Suzuki, Masashi Aoki, Toshihide Kumamoto, Keiko Tanaka, Hiroyuki Tomimitsu, Satoshi Nakano, Masahiro Sonoo, Jun Shimizu, Kazuma Sugie, Harumasa Nakamura, Yasushi Oya, Yukiko Hayashi, May Christine V. Malicdan, S. Noguchi, Miho Murata, Ichizo Nishino   +17 more
openalex   +4 more sources