Results 151 to 160 of about 5,472 (195)

Deciphering the role of acetylation-related gene NAT10 in colon cancer progression and immune evasion: implications for overcoming drug resistance. [PDF]

Discov Oncol
Zhou X, Sang X, Jiang L, Zhang S, Jiang C, Gu Y, Fu Y, Yang G, Zhang J, Chi H, Wang B, Zhong X.   +11 more
europepmc   +1 more source

Panax notoginseng saponins regulate the polarization of microglia by inhibiting the hematopoietic progenitor kinase 1 signaling pathway. [PDF]

Neuroreport
Li D, Yin J, Zhang Y, Zhang Y, Liu X, Liu J.   +5 more
europepmc   +1 more source

ATF2 phosphorylation is a core transcriptional driver of neuron apoptosis. [PDF]

Neuron
Gómez-Deza J, Nebiyou M, El Touny LH, Alkaslasi MR, Zuo Z, Wlaschin JJ, Nadal-Nicolás FM, Stavsky A, Zhang X, Slavutsky AL, Zhang AY, Lloyd EYH, Hayashi PM, Ashby N, Brueck MG, Sohn M, Dale RK, Thomas GM, Li W, Chih-Chien Cheng K, Rocha PP, Le Pichon CE.   +21 more
europepmc   +1 more source

Muscle imaging findings in GNE myopathy

Journal of Neurology, 2012
GNE myopathy (MIM 600737) is an autosomal recessive muscle disease caused by mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene. Besides the typical phenotype, characterized by the initial involvement of the distal leg muscles that eventually spreads proximally with sparing of the quadriceps, uncommon ...
Tasca, Giorgio, Ricci, Enzo, Monforte, Mauro, Laschena, F, Ottaviani, Pierfrancesco, Rodolico, C, Barca, E, Silvestri, Gabriella, Iannaccone, Elisabetta, Mirabella, Massimiliano, Broccolini, Aldobrando   +10 more
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Functional characterization of GNE mutations prevalent in Asian subjects with GNE myopathy, an ultra-rare neuromuscular disorder

Biochimie, 2022
UDP-GlcNAc 2-epimerase/ManNAc kinase (GNE) is a bifunctional enzyme (N-terminal epimerase and C-terminal Kinase domain) that catalyses the rate limiting step in sialic acid biosynthesis. More than 200 homozygous missense or compound heterozygous mutations in GNE have been reported worldwide to cause a rare neuromuscular disorder, GNE myopathy.
Ravi Bharadwaj, Sudha Bhattacharya, Ranjana Arya   +2 more
exaly   +3 more sources

Mutation profile of the GNE gene in Japanese patients with distal myopathy with rimmed vacuoles (GNE myopathy)

Journal of Neurology, Neurosurgery & Psychiatry, 2013
GNE myopathy (also called distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy) is an autosomal recessive myopathy characterised by skeletal muscle atrophy and weakness that preferentially involve the distal muscles. It is caused by mutations in the gene encoding a key enzyme in sialic acid biosynthesis, UDP-N-acetylglucosamine 2 ...
Anna, Cho, Yukiko K, Hayashi, Kazunari, Monma, Yasushi, Oya, Satoru, Noguchi, Ikuya, Nonaka, Ichizo, Nishino   +6 more
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GNE myopathy in India

Neurology India, 2013
GNE myopathy is a clinicopathologically distinct distal myopathy with autosomal-recessive inheritance. The GNE gene mutations are known to cause this form of distal myopathyOver the last 6 years, a total of 54 patients from 48 families were diagnosed to have GNE myopathy based on the clinical and histopathological findings. We have reported on 23 cases
Atchayaram, Nalini, Narayanappa, Gayathri, Ischizo, Nishino, Yukiko K, Hayashi   +3 more
openaire   +2 more sources

Novel GNE compound heterozygous mutations in a GNE myopathy patient

Muscle & Nerve, 2013
ABSTRACTIntroduction: Molecular studies have revealed that some patients with myopathies with rimmed vacuoles have pathogenic mutations in the UDP‐N‐acetylglucosamine‐2‐epimerase/N‐acetylmannosamine kinase (GNE) and Z‐band alternatively spliced PDZ motif‐containing protein (ZASP) genes.
Huaying, Cai, Ichiro, Yabe, Shinichi, Shirai, Hiroaki, Nishimura, Makoto, Hirotani, Takahiro, Kano, Hideki, Houzen, Kazuto, Yoshida, Hidenao, Sasaki   +8 more
openaire   +2 more sources

Role of HSP70 chaperone in protein aggregate phenomenon of GNE mutant cells: Therapeutic lead for GNE Myopathy

The International Journal of Biochemistry & Cell Biology, 2022
Limited treatment options and research in understanding the pathomechanisms of rare diseases has raised concerns about their therapeutic development. One such poorly understood ultra-rare neuromuscular disorder is GNE Myopathy (GNEM) which is caused due to mutation in key sialic acid biosynthetic enzyme, GNE.
Rashmi, Yadav, Shamulailatpam Shreedarshanee, Devi, Jyoti, Oswalia, Sivaprakash, Ramalingam, Ranjana, Arya   +4 more
openaire   +2 more sources