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Altered autophagic flux in GNE mutant cells of Indian origin: Potential drug target for GNE myopathy

Experimental Cell Research
Autophagy phenomenon in the cell maintains proteostasis balance by eliminating damaged organelles and protein aggregates. Imbalance in autophagic flux may cause accumulation of protein aggregates in various neurodegenerative disorders. Regulation of autophagy by either calcium or chaperone play a key role in the removal of protein aggregates from the ...
Jyoti Oswalia +3 more
openaire +2 more sources

Molecular genetics and therapeutic development for GNE myopathy

Journal of Human Genetics
GNE myopathy is an autosomal recessive distal myopathy resulting from biallelic pathogenic variants in the GNE gene, a key enzyme in sialic acid biosynthesis. Although most pathogenic variants are missense variants, recent advances have enabled the identification of copy number variations, deep intronic variants, and regulatory changes in the promoter ...
Wakako Yoshioka, Satoru Noguchi, Ichizo Nishino +2 more
openaire +2 more sources

Expanding the clinicopathological‐genetic spectrum of GNE myopathy by a Chinese neuromuscular centre

Journal of Cellular and Molecular Medicine, 2021
Kai-Yue Zhang, Hui-Qian Duan, Qiu-Xiang Li +2 more
exaly

Generation and Characterization of a Skeletal Muscle Cell-Based Model Carrying One Single Gne Allele: Implications in Actin Dynamics

Molecular Neurobiology, 2021
Fluencephila Mashangva, Priyanka Chaudhary, Ranjana Arya +2 more
exaly

Synthesis of GNE-834

Synfacts, 2020
openaire +1 more source

GNE-477

Drug Data Report, 2009
openaire +1 more source

GNE-493

Drug Data Report, 2009
openaire +1 more source

Mutation Update forGNEGene Variants Associated with GNE Myopathy

Human Mutation, 2014
Frank Celeste, Thierry Vilboux, Carla Ciccone +2 more
exaly