Results 41 to 50 of about 1,067 (171)

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

Myopathie GNE : [PDF]

médecine/sciences, 2017
Malgre un essai de phase II prometteur, l’acide sialique a liberation prolongee n’a pas confirme son efficacite sur une plus large population de patients. Une deception certaine, mais d’autres pistes therapeutiques restent ouvertes comme evoque lors des 23e Journees Neuromusculaires a Marseille les 6 et 7 septembre derniers.
Sylvie Marion, Anthony Béhin, Shahram Attarian   +2 more
openaire   +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

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

Mutation Update forGNEGene Variants Associated with GNE Myopathy [PDF]

Human Mutation, 2014
The GNE gene encodes the rate-limiting, bifunctional enzyme of sialic acid biosynthesis, uridine diphosphate-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE). Biallelic GNE mutations underlie GNE myopathy, an adult-onset progressive myopathy. GNE myopathy-associated GNE mutations are predominantly missense, resulting in reduced, but not
Frank V, Celeste, Thierry, Vilboux, Carla, Ciccone, John Karl, de Dios, May Christine V, Malicdan, Petcharat, Leoyklang, John C, McKew, William A, Gahl, Nuria, Carrillo-Carrasco, Marjan, Huizing   +9 more
openaire   +2 more sources

Sialyllactose ameliorates myopathic phenotypes in symptomatic GNE myopathy model mice

, 2021
Patients with GNE myopathy, a progressive and debilitating disease caused by a genetic defect in sialic acid biosynthesis, rely on supportive care and eventually become wheelchair-bound.
조안나
core   +1 more source

Autophagy in GNE Myopathy [PDF]

, 2013
Muscle diseases represent specific muscle pathology. The characteristic features as hallmarks of diseases have been historically used to diagnose the patients. The “Rimmed vacuole (RV)” (Figures 1) is one of such characteristic features in certain groups of the diseases.
Anna Cho, Satoru Noguchi
openaire   +1 more source

Nationwide patient registry for GNE myopathy in Japan [PDF]

Orphanet Journal of Rare Diseases, 2014
GNE myopathy is a slowly progressive autosomal recessive myopathy caused by mutations in the GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) gene. This study aimed to (1) develop a nationwide patient registry for GNE myopathy in order to facilitate the planning of clinical trials and recruitment of candidates, and (2) gain ...
Mori-Yoshimura, Madoka, Hayashi, Yukiko K, Yonemoto, Naohiro, Nakamura, Harumasa, Murata, Miho, Takeda, Shin’ichi, Nishino, Ichizo, Kimura, En   +7 more
openaire   +2 more sources