Results 141 to 150 of about 2,519,227 (189)

A recurrent GNE variant causing GNE myopathy in unrelated patients from Pakistan: a case series. [PDF]

J Med Case Rep
Saleem S, Akbar F, Kirmani S, Khalid E, Khan S.   +4 more
europepmc   +1 more source

ManNAc attenuates Man5 glycoform abundance through GNE-mediated metabolic channeling of UDP-GlcNAc to N-glycosylation modifications via CMP-Neu5Ac biosynthesis. [PDF]

MAbs
Sun R, Chai M, Man J, Yang G, Shu H, Wang Q, Tian C, Wang L, Liao S, Zhang Y, Cao Y, Xia L, Yang H, Zhang T, Ma L, Cao S, Gao Q, Le Y, Shi M, Li Q, Fan Y, Zhou H.   +21 more
europepmc   +1 more source

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Tissue-specific isoform expression of GNE gene in human tissues

Journal of Muscle Research and Cell Motility, 2022
Mutations in the sialic acid biosynthesis enzyme GNE lead to a late-onset, debilitating neuromuscular disorder, GNE myopathy, characterized by progressive skeletal muscle weakness. The mechanisms responsible for skeletal muscle specificity, late-onset, and disease progression are unknown.
Sudha Bhattacharya, Alok Bhattacharya
exaly   +3 more sources

Mutation profile of the GNE gene in Japanese patients with distal myopathy with rimmed vacuoles (GNE myopathy)

Journal of Neurology, Neurosurgery & Psychiatry, 2013
GNE myopathy (also called distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy) is an autosomal recessive myopathy characterised by skeletal muscle atrophy and weakness that preferentially involve the distal muscles. It is caused by mutations in the gene encoding a key enzyme in sialic acid biosynthesis, UDP-N-acetylglucosamine 2 ...
Anna, Cho, Yukiko K, Hayashi, Kazunari, Monma, Yasushi, Oya, Satoru, Noguchi, Ikuya, Nonaka, Ichizo, Nishino   +6 more
openaire   +3 more sources

Gene analysis and clinical features of 22 GNE myopathy patients

Neurological Sciences, 2022
GNE myopathy is an autosomal recessive distal myopathy caused by a biallelic mutation in UDP-N-acetylglucosamine 2-epomerase/N-acetylmannosamine kinase. In this study, we discuss the clinical features, pathological characteristics, genetic profiles, and atypical clinical manifestations of 22 Chinese GNE patients.Retrospective analysis was performed for
Jing Hu, Hongrui Shen
exaly   +3 more sources

A report on GNE myopathy: Individuals of Rajasthan ancestry share the Roma gene

Journal of the Neurological Sciences, 2017
Babi Ramesh Reddy Nallamilli, Madhuri Hegde, Khanjan Gandhi   +2 more
exaly   +3 more sources

Hereditary thrombocytopenia with platelet sialic acid deficiency and mutations in the GNE genes

Transfusion, 2023
AbstractBackgroundThe inherited macrothrombocytopenias are rare disorders and the underlying cause can be identified in many cases but in some, this can remain enigmatic. Platelet transfusions are often administered during hemorrhagic events.MethodsA patient with previously unexplained inherited macrothrombocytopenia with a platelet count between 3–20 ×
Caitlin Montcrieff, Karen A. Ferreira, Tracey A. Cheves, Lauren J. Massingham, Joseph D. Sweeney   +4 more
openaire   +2 more sources

A novel mutation in the GNE gene and a linkage disequilibrium in Japanese pedigrees

Annals of Neurology, 2002
AbstractDistal myopathy with rimmed vacuoles (DMRV) is an autosomal recessive muscular disorder characterized by weakness of the anterior compartment of the lower limbs with onset in early adulthood and sparing of the quadricep muscles. The UDP‐N‐acetylglucosamine‐2‐epimerase/N‐acetylmannosamine kinase (GNE) gene was recently identified as the ...
Aki, Arai, Keiko, Tanaka, Takeshi, Ikeuchi, Shuichi, Igarashi, Hisashi, Kobayashi, Tomoya, Asaka, Hidetoshi, Date, Masaaki, Saito, Hajime, Tanaka, Sari, Kawasaki, Eiichiro, Uyama, Hidehiro, Mizusawa, Nobuyoshi, Fukuhara, Shoji, Tsuji   +13 more
openaire   +2 more sources

Distal myopathy with rimmed vacuoles: Novel mutations in the GNE gene

Neurology, 2002
The authors present three novel missense mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene, the causative gene for hereditary inclusion body myopathy, in Japanese patients with distal myopathy with rimmed vacuoles.
H, Tomimitsu, K, Ishikawa, J, Shimizu, N, Ohkoshi, I, Kanazawa, H, Mizusawa   +5 more
openaire   +2 more sources