Results 41 to 50 of about 2,960 (158)

GNE myopathy (Nonaka myopathy)

Анналы клинической и экспериментальной неврологии, 2019
GNE myopathy (Nonaka myopathy) is a rare recessive muscular dystrophy associated with the GNE gene, which is involved in sialic acid synthesis. Typical onset is in the third decade of life with distal weakness of the arms and legs, gradually progressing ...
Galina E. Rudenskaya, Alena L. Chukhrova, Oksana P. Ryzhkova   +2 more
doaj   +1 more source

Congenital thrombocytopenia associated with GNE mutations in twin sisters: a case report and literature review

BMC Medical Genetics, 2020
Background Neonatal thrombocytopenia is common in preterm and term neonates admitted to neonatal intensive care units. The etiology behind neonatal thrombocytopenia is complex. Inherited thrombocytopenia is rare and usually results from genetic mutations.
Xin Li, Ying Li, Min Lei, Jing Tian, Zuocheng Yang, Shoujin Kuang, Yanjuan Tan, Tao Bo   +7 more
doaj   +1 more source

Biosynthesis of UDP-GlcNAc, UndPP-GlcNAc and UDP-GlcNAcA involves three easily distinguished 4-epimerase enzymes, Gne, Gnu and GnaB. [PDF]

PLoS ONE, 2013
We have undertaken an extensive survey of a group of epimerases originally named Gne, that were thought to be responsible for inter-conversion of UDP-N-acetylglucosamine (UDP-GlcNAc) and UDP-N-acetylgalactosamine (UDP-GalNAc).
Monica M Cunneen, Bin Liu, Lei Wang, Peter R Reeves   +3 more
doaj   +1 more source

Lectin Staining Biomarkers for Gene Therapy in GNE Myopathy

The FASEB Journal, 2020
GNE myopathy (GNEM) is an autosomal recessive disease characterized by muscle wasting and weakness. This disease is caused by mutations in the GNE (UDP‐N‐acetylglucosamine (GlcNAc) 2‐epimerase/N‐acetylmannosamine (ManNAc) kinase) gene, which ...
openaire   +1 more source

Efficacy confirmation study of aceneuramic acid administration for GNE myopathy in Japan

Orphanet Journal of Rare Diseases, 2023
Background A rare muscle disease, GNE myopathy is caused by mutations in the GNE gene involved in sialic acid biosynthesis. Our recent phase II/III study has indicated that oral administration of aceneuramic acid to patients slows disease progression ...
Madoka Mori-Yoshimura, Naoki Suzuki, Masahisa Katsuno, Masanori P. Takahashi, Satoshi Yamashita, Yasushi Oya, Atsushi Hashizume, Shinichiro Yamada, Masayuki Nakamori, Rumiko Izumi, Masaaki Kato, Hitoshi Warita, Maki Tateyama, Hiroshi Kuroda, Ryuta Asada, Takuhiro Yamaguchi, Ichizo Nishino, Masashi Aoki   +17 more
doaj   +1 more source

560. GNE Gene Replacement in Hereditary Inclusion Body Myopathy

Molecular Therapy, 2006
Hereditary inclusion body myopathy (HIBM) is an adult onset neuromuscular disorder currently without treatment options. The disease has been recently found to be associated with mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE) gene, which is the rate limiting bi-functional enzyme that catalyzes the first two steps ...
Maples, Phillip B., Darvish, Daniel, Nemunaitis, Gregory, Chang, Esther, Ogden, Julie, Nemunaitis, John   +5 more
openaire   +1 more source

Nicotinic Acid Restriction Enhances the Therapeutic Benefit of NAMPT Inhibition in Small‐Cell Lung Cancer Models

Cancer Science, EarlyView.
Dietary NA restriction converts the effect of NAMPT inhibition from cytostatic to cytotoxic in SCLC in vivo. ABSTRACT Small‐cell lung cancer (SCLC) is an aggressive malignancy with limited therapeutic options. We previously showed that nicotinic acid riboside (NAR) sustains NAD biosynthesis in vivo and compensates for NAMPT inhibition in SCLC models ...
Kyoji Tsurumi, Miyuki Nomura, Mai Ouchi, Shigehiro Yagishita, Naohiko Kikuchi, Taku Sato, Mami Morita, Yoji Yamashita, Kayoko Hayashi, Tomoyoshi Soga, Akinobu Hamada, Tatsuro Fukuhara, Nobuhiro Tanuma   +12 more
wiley   +1 more source

Lysine l‐Lactylation: Bridging Metabolism, Chromatin and Disease

Cell Proliferation, EarlyView.
Enzymatic regulation of KL‐la. The enzymatic regulation of KL‐la involves two distinct pathways for L‐lactate accumulation: intracellular production through glycolysis‐derived pyruvate conversion by lactate dehydrogenase (LDH) or direct cellular uptake via monocarboxylate transporters (MCTs). These L‐lactate pools fuel two distinct lactylation pathways—
Anoosha Malik, Muhammad Dilawar, Junguang Liao, Jie Zheng, Qitao Qian, Ming Xu, Sisi Lin, Xiaobo Zhu, Qiuwei Ge, Limin Jin, Guiqian Chen   +10 more
wiley   +1 more source

Autonomic Changes in Juvenile-Onset Huntington’s Disease

Brain Sciences, 2020
Patients with adult-onset Huntington’s Disease (AOHD) have been found to have dysfunction of the autonomic nervous system that is thought to be secondary to neurodegeneration causing dysfunction of the brain–heart axis. However, this relationship has not
Jordan L. Schultz, Peg C. Nopoulos
doaj   +1 more source

Gene Editing for Haemophilia—The Next Frontier

Haemophilia, EarlyView.
ABSTRACT The recently approved haemophilia A and B gene therapies via adeno‐associated virus (AAV) showed a promising therapeutic response after a single injection, but there are still limitations, including the potential loss of transgene expression and restriction in adults.
Mirko Pinotti, Gregory A. Newby, Sundar Selvaraj, Steven W. Pipe   +3 more
wiley   +1 more source