Results 21 to 30 of about 723 (117)

Gne-Depletion in C2C12 Myoblasts Leads to Alterations in Glycosylation and Myopathogene Expression [PDF]

Cells
GNE myopathy is a rare genetic neuromuscular disorder caused by mutations in the GNE gene. The respective gene product, UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE), is a bifunctional enzyme that initiates endogenous sialic acid ...
Carolin T. Neu, Aristotelis Antonopoulos, Anne Dell, Stuart M. Haslam, Rüdiger Horstkorte   +4 more
doaj   +2 more sources

Generation and characterization of a novel gne Knockout Model in Zebrafish

Frontiers in Cell and Developmental Biology, 2022
GNE Myopathy is a rare, recessively inherited neuromuscular worldwide disorder, caused by a spectrum of bi-allelic mutations in the human GNE gene. GNE encodes a bi-functional enzyme responsible for the rate-limiting step of sialic acid biosynthesis ...
Hagay Livne, Hagay Livne, Tom Avital, Shmuel Ruppo, Avi Harazi, Avi Harazi, Stella Mitrani-Rosenbaum, Alon Daya   +7 more
doaj   +1 more source

In vivo and in vitro genome editing to explore GNE functions

Frontiers in Genome Editing, 2022
GNE myopathy is an adult onset neuromuscular disorder characterized by slowly progressive distal and proximal muscle weakness, caused by missense recessive mutations in the GNE gene.
Nili Ilouz, Avi Harazi, Miriam Guttman, Alon Daya, Shmuel Ruppo, Lena Yakovlev, Stella Mitrani-Rosenbaum   +6 more
doaj   +1 more source

GNE – related severe congenital macrothrombocytopenia: A case report and literature review

Journal of Applied Hematology, 2022
Congenital thrombocytopenia results from genetic mutations in genes implicated in megakaryocyte differentiation and/or platelet formation and clearance.
Muhammad Matloob Alam, Abdulrhman Alathaibi, Muhammad Kashif, Mohammed Zakaria, Ruwayd Adel Attar, Hamdan Saeed Al-Ghamdi, Abdullah Obaid Al Harbi   +6 more
doaj   +1 more source

A novel mutation in GNE gene: clinical characteristics and bioinformatics analysis

Chinese Journal of Contemporary Neurology and Neurosurgery, 2018
Objective To report and summarize clinical phenotype and genotype characteristics in a patient with GNE myopathy, and to extend mutation spectrum of GNE gene.
Liang WANG, Ya-qin LI, Hui-li ZHANG, Yu-ling ZHU, Ruo-jie HE, Huan LI, Jin-fu LIN, Cheng ZHANG   +7 more
doaj   +1 more source

Combined sequence and copy number analysis improves diagnosis of limb girdle and other myopathies

Annals of Clinical and Translational Neurology, Volume 10, Issue 11, Page 2092-2104, November 2023., 2023
Abstract Objective Clinical and genetic heterogeneities make diagnosis of limb‐girdle muscular dystrophy (LGMD) and other overlapping disorders of muscle weakness complicated and expensive. We aimed to develop a comprehensive next generation sequence‐based multi‐gene panel (“The Lantern Focused Neuromuscular Panel”) to detect both sequence variants and
Babi R. R. Nallamilli, Yinghong Pan, Lisa Sniderman King, Lakshmanan Jagannathan, Vinish Ramachander, Ann Lucas, Jan Markind, Raffaella Colzani, Madhuri Hegde   +8 more
wiley   +1 more source

Increasing brain N‐acetylneuraminic acid alleviates hydrocephalus‐induced neurological deficits

CNS Neuroscience &Therapeutics, Volume 29, Issue 11, Page 3183-3198, November 2023., 2023
Cerebrospinal fluid levels of N‐acetylneuraminic acid (Neu5Ac) decrease in patients with normal pressure hydrocephalus (NPH). Neu5Ac levels are also inversely correlated with severity‐related clinical parameters of NPH. Increasing brain Neu5Ac by N‐acetylmannosamine alleviates the hydrocephalus‐induced neurological deficits in mice, which associates ...
Zhangyang Wang, Xiaoqun Nie, Fang Gao, Yanmin Tang, Yuanyuan Ma, Yiying Zhang, Yanqin Gao, Chen Yang, Jing Ding, Xin Wang   +9 more
wiley   +1 more source

Clinical and genetic characteristics of Nonaka myopathy (GNE-myopathy) in russian patients

Нервно-мышечные болезни, 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 ...
E. L. Dadali, I. V. Sharkova, G. E. Rudenskaya, S. S. Nikitin, A. F. Murtazina, O. P. Ryzhkova, A. L. Chukhrova   +6 more
doaj   +1 more source

Dissecting role of founder mutation p.V727M in GNE in Indian HIBM cohort

Open Medicine, 2021
GNE gene-specific c.2179G>A(p.V727M) is a key alteration reported in patients with hereditary inclusion body myopathy (HIBM) and represents an ethnic founder mutation in the Indian cohort.
Attri Shivangi, Sharma Vikas, Kumar Amit, Verma Chaitenya, Gahlawat Suresh Kumar   +4 more
doaj   +1 more source

GNE myopathy (Nonaka myopathy)

Анналы клинической и экспериментальной неврологии, 2019
GNE myopathy (Nonaka myopathy) is a rare recessive muscular dystrophy associated with the GNE gene, which is involved in sialic acid synthesis. Typical onset is in the third decade of life with distal weakness of the arms and legs, gradually progressing ...
Galina E. Rudenskaya, Alena L. Chukhrova, Oksana P. Ryzhkova   +2 more
doaj   +1 more source