Results 171 to 180 of about 4,568 (194)

Herstellung einer Hybrid-GNE-Apparatur

Informationen aus Orthodontie & Kieferorthopädie, 2022
Die chirurgisch unterstützte Gaumennahterweiterung (SARME) ist eine Kombinationstherapie aus einer forcierten Gaumennahterweiterung mittels Hyrax-Apparatur und einer operativen Schwächung des zygomaticomaxillären Bereichs.
openaire   +2 more sources

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.
Shweta Sharma, Pratibha Chanana, Ravi Bharadwaj, Sudha Bhattacharya, Ranjana Arya   +4 more
openaire   +2 more sources

Motor axonal neuropathy associated with GNE mutations

Muscle & Nerve, 2020
AbstractBackgroundMutations in the GNE gene have been so far described as predominantly associated with distal lower‐limb myopathies. Recent reports describe mutations in this gene in patients with peripheral neuropathy and motor neuron disease.MethodsWe describe three patients displaying motor neuropathy in association with GNE mutations.
Grecu, Nicolae, Villa, Luisa, Cavalli, Michele, Ristaino, Antoine, Choumert, Ariane, Butori, Catherine, Salviati, Leonardo, Puma, Angela, Krahn, Martin, Cerino, Mathieu, Sacconi, Sabrina   +10 more
openaire   +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
openaire   +2 more sources

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

Glycogen accumulation in GNE myopathy

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

P.3.4 In vivo GNE interactions

Neuromuscular Disorders, 2013
GNE Myopathy (formerly designated HIBM/DMRV) is a rare neuromuscular recessive disorder caused by missense mutations in GNE, the key enzyme of sialic acid biosynthesis. We have previously shown that GNE interacts with alpha-actinin1 and alpha-actinin2 in vitro, either at different interaction sites on the GNE protein, or alternatively by changing the ...
Z. Argov, A. Harazi, M. Becker Cohen, S. Hinderlich, S. Mitrani Rosenbaum   +4 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

GNE Myopathy

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

[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