Results 41 to 50 of about 6,315 (194)

GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme

Haematologica, 2021
Not abstract ...
Bottega R., Marzollo A., Marinoni M., Athanasakis E., Persico I., Bianco A. M., Faleschini M., Valencic E., Simoncini D., Rossini L., Corsolini F., La Bianca M., Robustelli G., Gabelli M., Agosti M., Biffi A., Grotto P., Bozzi V., Noris P., Burlina A. B., d'Adamo A. P., Tommasini A., Faletra F., Pastore A., Savoia A.   +24 more
openaire   +6 more sources

Genome-wide CRISPR screen identifies GNE as a key host factor that promotes influenza A virus adsorption and endocytosis

Microbiology Spectrum, 2023
Replication of influenza A virus (IAV) is highly reliant on host cell function, and to identify the key host factor required in the influenza A virus life cycle, a genome-wide CRISPR/Cas9 knockout (KO) screen was conducted in A549 cells infected by H1N1 ...
Tianxin Ma, Shiqi Niu, Zihua Wu, Shenghui Pan, Chenyang Wang, Xiaona Shi, Minghao Yan, Bangfeng Xu, Xingpo Liu, Luzhao Li, Dawei Yan, Qiaoyang Teng, Chunxiu Yuan, Xue Pan, Zhifei Zhang, Hoang Minh Duc, Zejun Li, Qinfang Liu   +17 more
doaj   +1 more source

Sialylation and muscle performance: sialic acid is a marker of muscle ageing.

PLoS ONE, 2013
Sialic acids (Sia) are widely expressed as terminal monosaccharides on eukaryotic glycoconjugates. They are involved in many cellular functions, such as cell-cell interaction and signal recognition.
Frank Hanisch, Wenke Weidemann, Mona Großmann, Pushpa Raj Joshi, Hans-Jürgen Holzhausen, Gisela Stoltenburg, Joachim Weis, Stephan Zierz, Rüdiger Horstkorte   +8 more
doaj   +1 more source

Клинико-генетические характеристики миопатии Нонака (GNE-миопатии) у российских больных [PDF]

, 2019
Clinical and genetic characteristics of 9patients with Nonaka myopathy (GNE-myopathy) from Russia are presented. As a result of exom sequencing, 11 different mutations were revealed in the GNE gene, 8 of which were described earlier, and 3 – Сys203Ser ...
А. Ф. Муртазина, G. E. Rudenskaya, A. F. Murtazina, Е. Л. Дадали, С. С. Никитин, S. S. Nikitin, Г. Е. Руденская, O. P. Ryzhkova, И. В. Шаркова, А. Л. Чухрова, I. V. Sharkova, E. L. Dadali, О. П. Рыжкова, A. L. Chukhrova   +13 more
core   +1 more source

Altered Actin Dynamics in Cell Migration of GNE Mutant Cells

Frontiers in Cell and Developmental Biology, 2021
Cell migration is an essential cellular process that requires coordination of cytoskeletal dynamics, reorganization, and signal transduction. The actin cytoskeleton is central in maintaining the cellular structure as well as regulating the mechanisms of ...
Shamulailatpam Shreedarshanee Devi, Rashmi Yadav, Ranjana Arya   +2 more
doaj   +1 more source

A novel mutation in GNE gene: clinical characteristics and bioinformatics analysis

Chinese Journal of Contemporary Neurology and Neurosurgery, 2018
Objective To report and summarize clinical phenotype and genotype characteristics in a patient with GNE myopathy, and to extend mutation spectrum of GNE gene.
Liang WANG, Ya-qin LI, Hui-li ZHANG, Yu-ling ZHU, Ruo-jie HE, Huan LI, Jin-fu LIN, Cheng ZHANG   +7 more
doaj   +1 more source

Dissecting role of founder mutation p.V727M in GNE in Indian HIBM cohort

Open Medicine, 2021
GNE gene-specific c.2179G>A(p.V727M) is a key alteration reported in patients with hereditary inclusion body myopathy (HIBM) and represents an ethnic founder mutation in the Indian cohort.
Attri Shivangi, Sharma Vikas, Kumar Amit, Verma Chaitenya, Gahlawat Suresh Kumar   +4 more
doaj   +1 more source

Fighting the Cause of Alzheimer’s and GNE Myopathy [PDF]

Frontiers in Neuroscience, 2018
Age is the common risk factor for both neurodegenerative and neuromuscular diseases. Alzheimer disease (AD), a neurodegenerative disorder, causes dementia with age progression while GNE myopathy (GNEM), a neuromuscular disorder, causes muscle degeneration and loss of muscle motor movement with age.
Shreedarshanee Devi, Rashmi Yadav, Pratibha Chanana, Ranjana Arya   +3 more
openaire   +3 more sources

Safety–Cybersecurity Co-Assurance in Railway Cyber-Physical Systems: A Structured Review and Maturity Assessment

IEEE Access
Railway systems are increasingly digitalized and interconnected, making cybersecurity a safety-relevant concern in safety-critical cyber–physical operations.
Yasmine Benghename, Ahmed Lounis, Mohamed Sallak   +2 more
doaj   +1 more source

GNE protein expression and subcellular distribution are unaltered in HIBM

Mutations in GNE encoding UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) cause hereditary inclusion body myopathy (HIBM). To define the role of GNE mutations in HIBM pathogenesis, GNE protein expression was analyzed.
Mitrani-Rosenbaum S, Hinderlich S, Lochmuller H, Tournev I, Merlini L, Aleo A, Argov Z, Krause S, Walter MC   +8 more
core   +5 more sources