Results 1 to 10 of about 43,935 (132)

Recessive GNE Mutations in Korean Nonaka Distal Myopathy Patients with or without Peripheral Neuropathy [PDF]

Genes
Autosomal recessive Nonaka distal myopathy is a rare autosomal recessive genetic disease characterized by progressive degeneration of the distal muscles, causing muscle weakness and decreased grip strength. It is primarily associated with mutations in the GNE gene, which encodes a key enzyme of sialic acid biosynthesis (UDP-N-acetylglucosamine 2 ...
Byung-Ok Choi, Ki Wha Chung
exaly   +5 more sources

Ion Mobility QTOF-MS Untargeted Lipidomics of Human Serum Reveals a Metabolic Fingerprint for GNE Myopathy [PDF]

Molecules
GNE myopathy, also known as hereditary inclusion body myopathy (HIBM), is a rare genetic muscle disorder marked by a gradual onset of muscle weakness in young adults.
Sally Spendiff, Andreas Hentschel, Hanns Lochmüller   +2 more
exaly   +4 more sources

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   +3 more sources

Homozygosity and linkage disequilibrium mapping of autosomal recessive distal myopathy (Nonaka distal myopathy) [PDF]

Journal of Human Genetics, 2001
Autosomal recessive distal myopathy or Nonaka distal myopathy (NM) is characterized by its unique distribution of muscular weakness and wasting. The patients present with spared quadriceps muscles even in a late stage of the disease. The hamstring and tibialis anterior muscles are affected severely in early adulthood.
M Nishina, K Honke, Masaharu Takamori
exaly   +3 more sources

Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE) [PDF]

Journal of Human Genetics, 2002
This is the first report on mutations of the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE) in Nonaka myopathy or distal myopathy with rimmed vacuoles (OMIM 605820), an autosomal recessive neuromuscular disorder. Sequence and haplotype analyses of GNE in two siblings with Nonaka myopathy from a Japanese family revealed that ...
Tatsuya Kishino, Naomichi Matsumoto, Tohru Ohta   +2 more
exaly   +3 more sources

Nonaka Myopathy—Adult Distal-onset Myopathy with Unique Topographical Weakness: A Case Report

Journal of Mahatma Gandhi University of Medical Sciences and Technology
Amit Agarwal, Vineet Mishra, Rajendra K Sureka, Jatinkumar Jain, Himanshu Kaushal   +4 more
exaly   +2 more sources

Crystal structure of the N-acetylmannosamine kinase domain of GNE. [PDF]

PLoS ONE, 2009
UDP-GlcNAc 2-epimerase/ManNAc 6-kinase, GNE, is a bi-functional enzyme that plays a key role in sialic acid biosynthesis. Mutations of the GNE protein cause sialurea or autosomal recessive inclusion body myopathy/Nonaka myopathy.
Yufeng Tong, Wolfram Tempel, Lyudmila Nedyalkova, Farrell Mackenzie, Hee-Won Park   +4 more
doaj   +1 more source

Novel compound heterozygous mutations in a GNE myopathy with congenital thrombocytopenia: A case report and literature review

Clinical Case Reports, Volume 10, Issue 4, April 2022., 2022
A novel insertion mutation c.*1037_*1038CACACACACACACACACACACA was identified in a GNE myopathy patient with congenital thrombocytopenia. The patient's congenital thrombocytopenia was found prior to the muscle weakness. Abstract We reported a GNE myopathy with congenital thrombocytopenia on a young male patient.
Zhouwei Xu, Jingyan Xiang, Xinghua Luan, Zhi Geng, Li Cao   +4 more
wiley   +1 more source

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

Journal of Cellular and Molecular Medicine, Volume 25, Issue 22, Page 10494-10503, November 2021., 2021
Abstract GNE myopathy is a heterogeneous group of ultrarare neuromuscular disorders caused by mutations in the GNE gene. An estimated prevalence of 1~21/1,000,000 leads to a deficiency of data and a lack of availability of samples to conduct clinical research on this neuromuscular disorder.
Kai‐Yue Zhang, Hui‐Qian Duan, Qiu‐Xiang Li, Yue‐Bei Luo, Fang‐Fang Bi, Kun Huang, Huan Yang   +6 more
wiley   +1 more source

Sialylation acts as a checkpoint for innate immune responses in the central nervous system

Glia, Volume 69, Issue 7, Page 1619-1636, July 2021., 2021
Main Points Sialic acid residues coat CNS cells, particularly neurons, and are added by sialyltransferases and removed by neuraminidases. Sialylation is sensed by complement factors and SIGLECs, thereby acting as a checkpoint for innate immunity in the CNS.
Christine Klaus, Huan Liao, David H. Allendorf, Guy C. Brown, Harald Neumann   +4 more
wiley   +1 more source