Results 51 to 60 of about 1,067 (171)

GNE myopathy: current update and future therapy [PDF]

Journal of Neurology, Neurosurgery & Psychiatry, 2014
GNE myopathy is an autosomal recessive muscle disease caused by biallelic mutations in GNE, a gene encoding for a single protein with key enzymatic activities, UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase, in sialic acid biosynthetic pathway. The diagnosis should be considered primarily in patients presenting with distal weakness (
Ichizo Nishino, Nuria Carrillo-Carrasco, Zohar Argov   +2 more
openaire   +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

Клинико-генетические характеристики миопатии Нонака (GNE-миопатии) у российских больных

, 2019
Clinical and genetic characteristics of 9patients with Nonaka myopathy (GNE-myopathy) from Russia are presented. As a result of exom sequencing, 11 different mutations were revealed in the GNE gene, 8 of which were described earlier, and 3 – Сys203Ser ...
А. Ф. Муртазина, G. E. Rudenskaya, A. F. Murtazina, Е. Л. Дадали, С. С. Никитин, S. S. Nikitin, Г. Е. Руденская, O. P. Ryzhkova, И. В. Шаркова, А. Л. Чухрова, I. V. Sharkova, E. L. Dadali, О. П. Рыжкова, A. L. Chukhrova   +13 more
core   +1 more source

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

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, Kazunari Momma, Ichizo Nishino, Satoru Noguchi   +3 more
openaire   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

Absolute bioavailability and intravenous pharmacokinetics of N‐acetyl‐D‐mannosamine in humans

British Journal of Clinical Pharmacology, Volume 92, Issue 2, Page 488-494, February 2026.
Aims N‐acetyl‐D‐mannosamine monohydrate (ManNAc) is a naturally occurring monosaccharide that has attracted considerable attention for its potential in treating GNE myopathy, a rare autosomal recessive muscle disorder. Despite its promise as an oral treatment, the absolute bioavailability of oral ManNAc has not been determined and there has been no ...
Tahlia R. Meola, Guy Ludbrook, Gianfranco Fornasini, Olga Pavlova, Sumit Jain, Allan M. Evans, Stephanie E. Reuter   +6 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