Results 161 to 170 of about 6,315 (194)

A novel mutation alters GNE bifunctional enzyme activity and leads to familial inherited GNE diseases

Gene
Distal myopathies are a group of rare heterogeneous diseases that are mostly caused by genetic factors. At least 20 genes have been associated with distal myopathies. We performed whole-exome sequencing to identify the genetic cause of disease in a family with distal myopathy.
Yufei Li, Wenwu Li, Baitong Fan, Yao Zhang, Zhaoqing Li, Keqin Lin, Kai Huang, Zhaoqing Yang, Shaohui Ma, Hao Sun   +9 more
openaire   +2 more sources

Bayesian model of disease progression in GNE myopathy

Statistics in Medicine, 2018
One Sentence Summary: A Bayesian repeated measures model based on quantitative muscle strength data from a prospective Natural History Study was developed to determine disease progression and design clinical trials for GNE myopathy, a rare and slowly progressive muscle disease.GNE myopathy is a rare muscle disease characterized by slowly progressive ...
M. Quintana, J. Shrader, C. Slota, G. Joe, J.C. McKew, M. Fitzgerald, W.A. Gahl, S. Berry, N. Carrillo   +8 more
openaire   +3 more sources

Glycogen accumulation in GNE myopathy

Neuromuscular Disorders, 2022
Andre Granger, Marcus V Pinto, Margherita Milone, Teerin Liewluck   +3 more
openaire   +2 more sources

Longitudinal study for GNE gene (ClinBio-GNE)

Neuromuscular Disorders, 2015
T. Gidaro, D. Duchene, G. Ollivier, V. Decostre, J.Y. Hogrel, P. Carlier, A. Behin, L. Servais   +7 more
openaire   +1 more source

GNE Myopathy

2023
Zohar Argov, Stella Mitrani-Rosenbaum
openaire   +1 more source

eP017: GNE gene variants associated with thrombocytopenia with or without GNE myopathy

Genetics in Medicine, 2022
Jessica Jang, Marjan Huizing, Andrea Bowling, Caitlin Yuan, Nuria Carrillo, William Gahl, Francis Rossignol   +6 more
openaire   +1 more source

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, Shagun Singh, Vaishali Gautam, Ranjana Arya   +3 more
openaire   +2 more sources

[Therapeutic development for GNE myopathy.]

Clinical calcium, 2017
GNE myopathy is rare muscle disease which affect distal muscles. GNE gene, which encodes for a key enzyme in the sialic acid biosynthesis pathway, is mutated in the homozygote or compound heterozygote in the disease. The lack of sialic acid in skeletal muscle is the critical pathological process in GNE myopathy. GNE myopathy model mouse was established
Naoki, Suzuki, Rumiko, Izumi, Masaaki, Kato, Hitoshi, Warita, Masashi, Aoki   +4 more
openaire   +1 more source

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
Yue-Bei Luo, Huan Yang, Kun Huang
exaly