Results 71 to 80 of about 1,629 (185)
Exploring the role of LDH in cancer cells through the use of small-molecule inhibitors. [PDF]
, 2018 Metabolic reprogramming represents a potential therapeutic target in cancer. The studies of this thesis work lead to assume the enzyme lactate dehydrogenase (LDH) as key element coordinating neoplastic proliferation and invasive growth, suggesting for ...
Di Ianni, Lorenza <1987>
core +1 more source
European Journal of Neurology, Volume 33, Issue 1, January 2026.This study assesses muscle MRI features for the differential diagnosis of patients with distal myopathies and distal hereditary motor neuropathies (dHMNs). A reticular pattern of fat infiltration, together with diffuse and marked involvement of intrinsic foot muscles, emerged as characteristic of dHMNs.
María Payá +14 more
wiley +1 more source
Identification of biomarkers for GNE myopathy
The FASEB Journal, 2012 GNE‐myopathy is an autosomal recessive disorder characterized by muscle atrophy and weakness, and accumulation of amyloid proteins and rimmed vacuoles in myofibers. This disease is secondary to mutations in the GNE gene, which encodes an essential enzyme in sialic acid biosynthesis. Recently,
May Christine Malicdan +3 more
openaire +1 more source
Substantial deficiency of free sialic acid in muscles of patients with GNE myopathy and in a mouse model. [PDF]
PLoS ONE, 2017 GNE myopathy (GNEM), also known as hereditary inclusion body myopathy (HIBM), is a late- onset, progressive myopathy caused by mutations in the GNE gene encoding the enzyme responsible for the first regulated step in the biosynthesis of sialic acid (SA).
Yiumo Michael Chan +7 more
doaj +1 more source
Panchakarma Based Therapeutic Interventions in GNE Myopathy- Insights Through A Case Study [PDF]
GNE myopathy is a rare autosomal recessive muscular disorder characterized by progressive skeletal muscle atrophy, primarily due to mutations in the GNE gene.
Shakuntala S Pujeri +1 more
core +2 more sources
Molecular Diagnosis in a Specialised Neurogenetic Clinic With Access to Whole‐Genome Sequencing
Acta Neurologica Scandinavica, Volume 2026, Issue 1, 2026.Background Rare diseases, collectively affecting 1 in 17 people in the United Kingdom and Ireland, require coordinated care. Specialised multidisciplinary clinics offer a streamlined approach for diagnosis and management of rare neurogenetic disorders.
Patrick B. Moloney +2 more
wiley +1 more source
Role of IGF-1R in ameliorating apoptosis of GNE deficient cells
Scientific Reports, 2018 Sialic acids (SAs) are nine carbon acidic amino sugars, found at the outermost termini of glycoconjugates performing various physiological and pathological functions.
Reema Singh +2 more
doaj +1 more source
Panorama of the distal myopathies [PDF]
, 2020 Distal myopathies are genetic primary muscle disorders with a prominent weakness at onset in hands and/or feet. The age of onset (from early childhood to adulthood), the distribution of muscle weakness (upper versus lower limbs) and the histological ...
Hackman, P. +8 more
core +1 more source
Musculoskeletal Diseases: Mechanisms and Therapeutic Advances
MedComm, Volume 6, Issue 12, December 2025.Musculoskeletal diseases comprise a broad spectrum of inflammatory, degenerative, and neoplastic disorders. Increasing evidence highlights the central role of immune regulation in their pathogenesis, with complex interactions among immune, bone, muscle, and stromal cells.
Xiao Ma +17 more
wiley +1 more source
GNE Myopathy in Turkish Sisters with a Novel Homozygous Mutation
Case Reports in Neurological Medicine, 2016 Background. Hereditary inclusion body myopathy is caused by biallelic defects in the GNE gene located on chromosome 9p13. It generally affects adults older than 20 years of age. Methods and Results.
Gulden Diniz +7 more
doaj +1 more source