Results 101 to 110 of about 1,995 (205)
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
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
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
The FASEB Journal, Volume 38, Issue 13, 15 July 2024.N‐glycosylation inhibitions by Tunicamycin (TUN) or by knockdown of phosphomannomutase 2 (PMM2) gene block the C2C12 myoblast fusion and impair the myogenic program. TUN treatment decreased myogenic markers and increased atrophy markers in muscles of WT and MLC/mIgf‐1 mice, which overexpress muscle Igf‐1Ea mRNA isoform.
Giosuè Annibalini +13 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
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
A novel therapeutic strategy for pancreatic neoplasia using a novel RNAi platform targeting PDX-1 [PDF]
, 2011 Bi-functional shRNA (bi-shRNA), a novel RNA interference (RNAi) effector platform targeting PDX-1 utilizing a systemic DOTAP-Cholesterol delivery vehicle, was studied in three mouse models of progressive pancreatic neoplasia.
Charles Brunicardi +13 more
core +1 more source
Journal of Cachexia, Sarcopenia and Muscle, Volume 15, Issue 3, Page 1108-1120, June 2024.Abstract Background Finding sensitive clinical outcome measures has become crucial in natural history studies and therapeutic trials of neuromuscular disorders. Here, we focus on 1‐year longitudinal data from quantitative magnetic resonance imaging (MRI) and phosphorus magnetic resonance spectroscopy (31P MRS) in a placebo‐controlled study of sirolimus
Harmen Reyngoudt +11 more
wiley +1 more source
Targeting Immune-Mediated Responses to Tackle GNE Myopathy [PDF]
, 2022 Mariana Barbosa +2 more
openalex +1 more source
An Update on Reported Variants in the Skeletal Muscle α‐Actin (ACTA1) Gene
Human Mutation, Volume 2024, Issue 1, 2024.The ACTA1 gene encodes skeletal muscle alpha‐actin, which forms the core of the sarcomeric thin filament in adult skeletal muscle. ACTA1 represents one of six highly conserved actin proteins that have all been associated with human disease. The first 15 pathogenic variants in ACTA1 were reported in 1999, which expanded to 177 in 2009.
Joshua S. Clayton +9 more
wiley +1 more source