A Novel Mutation of the GNE Gene in Distal Myopathy with Rimmed Vacuoles: A Case with Inflammation
Case Reports in Neurology, 2014 Distal myopathy with rimmed vacuoles (DMRV) is an autosomal recessive or sporadic early adult-onset myopathy caused by mutations in the UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase (GNE) gene.
Jantima Tanboon +5 more
doaj +1 more source
RYR 1 Gene Mutation in Motor Neuron Disease: A 10‐Year Case Observation
Case Reports in Neurological Medicine, Volume 2025, Issue 1, 2025.Motor neuron diseases (MND) are a group of rare, often severe, and life‐limiting progressive neurological disorders that primarily affect motor neurons, resulting in muscle weakness and loss of essential muscle functions. Genetic defects play a significant role in MND, contributing to their pathogenesis and progression.
Andreas Posa +2 more
wiley +1 more source
Aberrant O‐Glc
The FEBS Journal, 2016 UDP‐N‐acetylglucosamine 2‐epimerase/N‐acetylmannosamine kinase (GNE) is the key enzyme for the biosynthesis of sialic acids. Sialic acids are terminal monosaccharides of glycoconjugates and gangliosides, which have an essential influence on various cell interactions.
Dorit, Bennmann +4 more
openaire +2 more sources
New insights on the pathomechanism of GNE myopathy: proposing an immune-mediated response [PDF]
, 2022 Glycosylation is known to be involved in several biological functions, and defects in the synthesis or attachment of sugars can modulate the course of various malignancies.
Pereira, Beatriz Luís
core
Molecular Genetics &Genomic Medicine, Volume 12, Issue 11, November 2024.ABSTRACT Background Distal myopathies are genetic muscle disorders caused by mutations in various genes. A study found that mutations in adenylosuccinate synthetase‐like 1 (ADSSL1) are associated with distal myopathy in nine patients from six unrelated families in South Korea. Previous research showed that affected individuals experienced distal muscle
Hui Wang +3 more
wiley +1 more source
Limb-girdle muscular dystrophies in India: A review
Annals of Indian Academy of Neurology, 2017 Limb-girdle muscular dystrophies (LGMDs) are common in India. Information on LGMDs has been gradually evolving in the recent years. This information is scattered in case series and case studies.
Satish V Khadilkar +3 more
doaj +1 more source
Clinical and Genomic Evaluation of 207 Genetic Myopathies in the Indian Subcontinent
Frontiers in Neurology, 2020 Objective: Inherited myopathies comprise more than 200 different individually rare disease-subtypes, but when combined together they have a high prevalence of 1 in 6,000 individuals across the world.
Samya Chakravorty +18 more
doaj +1 more source
Induced muscle and liver absence of Gne in postnatal mice does not result in structural or functional muscle impairment [PDF]
Background: GNE Myopathy is a unique recessive neuromuscular disorder characterized by adult-onset, slowly progressive distal and proximal muscle weakness, caused by mutations in the GNE gene which is a key enzyme in the biosynthesis of sialic acid.
Abramovitch, Rinat +11 more
core +1 more source
Impact of Food on the Oral Absorption of N‐Acetyl‐D‐Mannosamine in Healthy Men and Women
Clinical Pharmacology in Drug Development, Volume 13, Issue 8, Page 876-883, August 2024.Abstract 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
Allan M. Evans +6 more
wiley +1 more source
Is the Definition of Roma an Important Matter? The Parallel Application of Self and External Classification of Ethnicity in a Population-Based Health Interview Survey [PDF]
, 2018 K
Janka, Eszter Anna +3 more
core +2 more sources