Results 51 to 60 of about 4,568 (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

Non‐Histone Lactylation: A New Frontier in Cerebral Ischemia‐Reperfusion Injury

Med Research, EarlyView.
ABSTRACT Reperfusion therapy is the mainstay of treatment for ischemic stroke (IS) but frequently exacerbates secondary injury. Following cerebral ischemia and hypoxia, lactate accumulates markedly. Traditionally regarded as a metabolic byproduct, lactate has gained new significance with the discovery of protein lactylation. In addition to experimental
Minghui Tang, Yuying Mo, Zhishan Ling, Yuting Zeng, Qi Zhang, Shuqi Zheng, Shuyang Wen, Yupeng Xiao, Siying Long, Tingting Yang, Qianru Li, Wenjie Shi, Guozhi Huang, Qing Zeng   +13 more
wiley   +1 more source

Novel compound heterozygous mutations in a GNE myopathy with congenital thrombocytopenia: A case report and literature review

Clinical Case Reports, 2022
We reported a GNE myopathy with congenital thrombocytopenia on a young male patient. He presented with a 3‐year history of lower distal extremity weakness initially affecting his legs.
Zhouwei Xu, Jingyan Xiang, Xinghua Luan, Zhi Geng, Li Cao   +4 more
doaj   +1 more source

Current perspectives on KMT2A fusion proteins and menin inhibition in paediatric acute myeloid leukaemia

The FEBS Journal, EarlyView.
Genetic rearrangements resulting in the expression of KMT2A fusion alleles can lead to dramatic transcriptional disturbances that contribute to the onset of acute leukaemias. Fortunately, menin inhibition has emerged as a promising new class of targeted therapy.
Lydia Elaine Roets, Graeme Greenfield, Katrina Mairead Lappin   +2 more
wiley   +1 more source

Aging‐Derived Alterations in Genomic, Immune, and Metabolic Networks: Implications for Cancer Development and Therapy

MedComm – Oncology, Volume 5, Issue 1, March 2026.
Ageing acts as a double‐edged sword in cancer. In the elderly, open chromatin, immunosenescence, and chronic inflammation drive SASP (IL‐6, MMPs), MDSC accumulation and T‐cell suppression, fostering tumor‐promoting microenvironments and limited therapeutic benefit.
Qi Wang, Xue Sun, Xinhao Han, Xingda Zhang, Wenzheng Wang, Hongbin Wang, He Ren, Lina Gu   +7 more
wiley   +1 more source

Role of IGF-1R in ameliorating apoptosis of GNE deficient cells

Scientific Reports, 2018
Sialic acids (SAs) are nine carbon acidic amino sugars, found at the outermost termini of glycoconjugates performing various physiological and pathological functions.
Reema Singh, Priyanka Chaudhary, Ranjana Arya   +2 more
doaj   +1 more source

Molecular Glue Degraders Redefining Targeted Therapies From Discovery to Therapeutic Applications

MedComm – Oncology, Volume 5, Issue 1, March 2026.
Molecular glue degraders (MGDs) constitute an emerging class of therapeutic agents poised to revolutionize the paradigm of targeted drug discovery. By reprogramming E3 ubiquitin ligases to degrade proteins of interest (POI) via a transient formation of a ternary complex mediated by protein–protein interactions, MGDs surpass the intrinsic limitations of
Jinfeng Wen, Jingtian Yu, Wuqiang Wen, Baishan Jiang   +3 more
wiley   +1 more source

GNE myopathy: from clinics and genetics to pathology and research strategies

Orphanet Journal of Rare Diseases, 2018
GNE myopathy is an ultra-rare autosomal recessive disease, which starts as a distal muscle weakness and ultimately leads to a wheelchair bound state.
Oksana Pogoryelova, José Andrés González Coraspe, Nikoletta Nikolenko, Hanns Lochmüller, Andreas Roos   +4 more
doaj   +1 more source

Long-term inhibition of mutant LRRK2 hyper-kinase activity reduced mouse brain α-synuclein oligomers without adverse effects

npj Parkinson's Disease, 2022
Parkinson’s disease (PD) is characterized by dopaminergic neurodegeneration in nigrostriatal and cortical brain regions associated with pathogenic α-synuclein (αSyn) aggregate/oligomer accumulation.
Philip Wing-Lok Ho, Eunice Eun-Seo Chang, Chi-Ting Leung, Huifang Liu, Yasine Malki, Shirley Yin-Yu Pang, Zoe Yuen-Kiu Choi, Yingmin Liang, Weng Seng Lai, Yuefei Ruan, Kenneth Mei-Yee Leung, Susan Yung, Judith Choi-Wo Mak, Michelle Hiu-Wai Kung, David B. Ramsden, Shu-Leong Ho   +15 more
doaj   +1 more source

Glycation Interferes with the Activity of the Bi-Functional UDP-N-Acetylglucosamine 2-Epimerase/N-Acetyl-mannosamine Kinase (GNE)

Biomolecules, 2023
Mutations in the gene coding for the bi-functional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE), the key enzyme of the sialic acid biosynthesis, are responsible for autosomal-recessive GNE myopathy (GNEM).
Vanessa Hagenhaus, Jacob L. Gorenflos López, Rebecca Rosenstengel, Carolin Neu, Christian P. R. Hackenberger, Arif Celik, Klara Weinert, Mai-Binh Nguyen, Kaya Bork, Rüdiger Horstkorte, Astrid Gesper   +10 more
doaj   +1 more source