Results 41 to 50 of about 26,442 (131)

Muscle imaging findings in GNE myopathy

, 2012
GNE myopathy (MIM 600737) is an autosomal recessive muscle disease caused by mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene. Besides the typical phenotype, characterized by the initial involvement of the distal
Monforte, Mauro, Ottaviani, Pierfrancesco, Ricci, Enzo, Silvestri, Gabriella, Iannaccone, Elisabetta, Mirabella, Massimiliano, Broccolini, Aldobrando, Tasca, Giorgio   +7 more
core   +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

Evaluation of N-Acetylmannosamine Administration to Restore Sialylation in GNE-Deficient Human Embryonal Kidney Cells

Frontiers in Bioscience-Landmark, 2023
Background: A key mechanism in the neuromuscular disease GNE myopathy (GNEM) is believed to be that point mutations in the GNE gene impair sialic acid synthesis – maybe due to UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) activity ...
Emilia Peters, Philipp Selke, Kaya Bork, Rüdiger Horstkorte, Astrid Gesper   +4 more
doaj   +1 more source

Non-specific accumulation of glycosphingolipids in GNE myopathy

, 2014
International audienceBackground: UDP-GlcNAc 2-epimerase/ManNAc 6-kinase (GNE) is a bifunctional enzyme responsible for the first committed steps in the synthesis of sialic acid, a common terminal monosaccharide in both protein and lipid glycosylation ...
Dorward, Heidi, Petcharat Leoyklang, Heidi Dorward, Erell Le Poëc‐Celic, Matthieu Sollogoub, Yardeni, Tal, Sollogoub, Matthieu, Tal Yardeni, Patzel, Katherine A., Marjan Huizing, Katherine A. Patzel, Terry D. Butters, Dominic S. Alonzi, Alonzi, Dominic S., Le Poëc-Celic, Erell, Leoyklang, Petcharat, Huizing, Marjan, Butters, Terry D., Nikolay V. Kukushkin, Yves Blériot, Xu, Bixue, Blériot, Yves, Gahl, William A., William A. Gahl, Zhang, Yongmin, Bixue Xu, Kukushkin, Nikolay V., Yongmin Zhang   +27 more
core   +1 more source

Identification of the Genomic Etiology of Unexplained Congenital Problems in Pediatric Patients: First Reported Case With Coffin–Siris Syndrome and Sialuria From India

Clinical Case Reports, Volume 14, Issue 9, September 2026.
ABSTRACT Coffin–Siris syndrome (CSS) (OMIM:614608) is a rare genetic disorder characterized by global developmental delay (GDD), speech impediment, coarse facial features, and hypoplastic or absent fifth fingernails/toenails. Genetic variants in the SMARCB1 gene are associated with CSS, benign tumors (schwannomas), and rhabdoid tumor predisposition ...
Aparna Bhanushali, Archana Kawalakatt, Smita Kulkarni, Preethi Nair, Ankita Mali, Ashlesha Pradhan, Anirvan Chatterjee   +6 more
wiley   +1 more source

Quantitative Guanidinium CEST‐Based pH Mapping at 3 T in Healthy and Pathological Muscle

NMR in Biomedicine, Volume 39, Issue 8, August 2026.
Chemical exchange saturation transfer (CEST) enables high‐resolution pH mapping by measuring the exchange rate between guanidinium and water protons. The current method is based on the Z‐spectra fitting with Bloch–McConnell (BM) equations and allows us to detect pH variations on the order of 0.02 pH units in the very restrained pathophysiological pH ...
Valentin Henriet, Pierre‐Yves Baudin, Benjamin Marty, Marc Lapert, Harmen Reyngoudt   +4 more
wiley   +1 more source

GNE Myopathy with Congenital Thrombocytopenia [PDF]

, 2018
GNE myopathy is a distal dominant myopathy with characteristic sparing of quadriceps, which is known to be caused by mutation of the GNE gene. Recently, there were some reports of thrombocytopenia that concurred with GNE myopathy. We also present a case
최영철, 이정환, 김세훈, 허준녕, 신하영   +4 more
core  

Non-GNE Quadriceps Sparing Distal Myopathy in an Iranian Jewish Patient.

, 2019
GNE myopathy is an autosomal-recessive distal myopathy. It is caused by a hypomorphic GNE gene, encoding the rate-limiting enzyme in sialic acid synthesis.
Khosa, Shaweta, Rafiei, Nastaran, Valles-Ayoub, Yadira, Darvish, Daniel, Trikamji, Bhavesh, Freundlich, Robert, Moheb, Negar, MD, Mishra, Shri K   +7 more
core   +2 more sources

Ganglioside GM3 levels are altered in a mouse model of HIBM: GM3 as a cellular marker of the disease. [PDF]

PLoS ONE, 2010
ObjectiveHIBM (Hereditary Inclusion Body Myopathy) is a recessive hereditary disease characterized by adult-onset, slowly progressive muscle weakness sparing the quadriceps.
Thomas Paccalet, Zoé Coulombe, Jacques P Tremblay   +2 more
doaj   +1 more source

Altered Actin Dynamics in Cell Migration of GNE Mutant Cells

Frontiers in Cell and Developmental Biology, 2021
Cell migration is an essential cellular process that requires coordination of cytoskeletal dynamics, reorganization, and signal transduction. The actin cytoskeleton is central in maintaining the cellular structure as well as regulating the mechanisms of ...
Shamulailatpam Shreedarshanee Devi, Rashmi Yadav, Ranjana Arya   +2 more
doaj   +1 more source