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An RNase III-processed sRNA coordinates sialic acid metabolism of during gut colonization.
Proc Natl Acad Sci U S A
January 2025
Key Laboratory of Medical Molecular Virology (Ministry of Education / National Health Commission / Chinese Academy of Medical Sciences), Shanghai Frontiers Science Center of Pathogenic Microorganisms and Infection, School of Basic Medical Sciences, Shanghai Medical College, Fudan University, Shanghai 200033, China.
Sialic acids derived from colonic mucin glycans are crucial nutrients for enteric bacterial pathogens like . The uptake and utilization of sialic acid in depend on coordinated regulons, each activated by specific metabolites at the transcriptional level. However, the mechanisms enabling crosstalk among these regulatory circuits to synchronize gene expression remain poorly understood.
View Article and Find Full Text PDFIon Mobility QTOF-MS Untargeted Lipidomics of Human Serum Reveals a Metabolic Fingerprint for GNE Myopathy.
Molecules
November 2024
Department of Life and Environmental Sciences, Cittadella Universitaria di Monserrato, Blocco A, Room 13, 09042 Monserrato, Italy.
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. GNE myopathy (GNEM) is caused by bi-allelic variants in the UDP--acetylglucosamine 2-epimerase (UDP-GlcNAc 2-epimerase)/-acetylmannosamine kinase (ManNAc kinase) gene (), clinically resulting in the loss of ambulation within 10-20 years from the onset of the initial symptoms. The disease's mechanism is poorly understood and non-invasive biomarkers are lacking, hindering effective therapy development.
View Article and Find Full Text PDFA novel variant in the GNE gene in a Malian patient presenting with distal myopathy.
Neurogenetics
October 2024
Faculté de Médecine et d'Odontostomatologie, Université des Sciences, des Techniques et des Technologies de Bamako, Bamako, BP: 1805, Mali.
GNE-myopathy (GNE-M) is a rare autosomal recessive disorder caused by variants in the GNE gene. We report a novel variant in GNE causing GNE-M in a Malian family. A 19-year-old male patient from consanguineous marriage was seen for progressive walking difficulty.
View Article and Find Full Text PDFA novel mutation alters GNE bifunctional enzyme activity and leads to familial inherited GNE diseases.
Gene
November 2024
The Department of Medical Genetics, Institute of Medical Biology, Chinese Academy of Medical Sciences and Peking Union Medical College, Kunming, Yunnan 650118, China. Electronic address:
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.
View Article and Find Full Text PDFImpact of Food on the Oral Absorption of N-Acetyl-D-Mannosamine in Healthy Men and Women.
Clin Pharmacol Drug Dev
August 2024
UniSA Clinical & Health Sciences, University of South Australia, Adelaide, SA, Australia.
N-Acetyl-D-mannosamine (ManNAc) is an endogenous monosaccharide and precursor of N-acetylneuraminic acid (Neu5Ac), a critical sialic acid. ManNAc is currently under clinical development to treat GNE myopathy, a rare muscle-wasting disease. In this randomized, open-label, 2-sequence, crossover study, 16 healthy women and men were administered a single oral dose of ManNAc under fasting and fed conditions.
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