Results 131 to 140 of about 2,890 (187)

Deubiquitinating Enzymes Ubiquitin-Specific Proteases 7 and 10 Regulate TAU Aggregation. [PDF]

Int J Mol Sci
Volbracht C, Fog K.
europepmc   +1 more source

Novel missense variants associated with GNE myopathy

Ranta-aho J, Cetrangolo V, Bello L, Capece G, Pegoraro E, Di Feo MF, Mihaylova V, Jung HH, Hauw F, Stojkovic T, Behin A, Romero N, Maisonobe T, Lucchini M, Santos MO, Mirabella M, Tasca G, Savarese M, Udd B, Johari M.   +19 more
europepmc   +1 more source

Comparison of Lectins as Staining Biomarkers for GNE Myopathy Gene Therapy

The FASEB Journal, 2022
GNE myopathy (GNEM) is an autosomal recessive disease in which mutations in the GNE gene lead to skeletal muscle weakness and progressive wasting. GNE encodes an essential enzyme of the sialic acid (SA) biosynthetic pathway; thus, decreased SA levels in
Kelly E. Crowe
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Disease mechanisms associated with mutations of the GNE gene

Drug Discovery Today: Disease Mechanisms, 2005
The GNE gene encodes the rate-limiting, bifunctional enzyme of sialic acid biosynthesis, UDP-GlcNAc 2-epimerase/ManNAc kinase. GNE mutations underlie two distinct disorders, dominant inherited sialuria characterized by dramatically increased sialic acid levels and recessive hereditary inclusion body myopathy (HIBM), characterized by decreased ...
Marjan Huizing
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Hereditary inclusion body myopathy: single patient response to GNE gene Lipoplex therapy

The Journal of Gene Medicine, 2010
AbstractBackgroundHereditary inclusion body myopathy (HIBM) is an autosomal recessive adult onset myopathy. It is characterized by mutations of the GNE (UDP‐N‐acetylglucosamine 2‐epimerase/N‐acetylmannosamine kinase) gene. Afflicted patients have no therapeutic options.
Gregory Nemunaitis, Phillip B. Maples, Chris Jay, William A. Gahl, Marjan Huizing, Justin Poling, Alex W. Tong, Anagha P. Phadke, Beena O. Pappen, Cynthia Bedell, Nancy Smyth Templeton, Joseph A. Kuhn, Neil Senzer, John Nemunaitis   +13 more
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An Italian family with autosomal recessive inclusion-body myopathy and mutations in the GNE gene

Neurology, 2002
The term hereditary inclusion-body myopathies (h-IBM) refers to several syndromes with autosomal recessive (AR) or dominant inheritance.1 Although clinical presentation may vary among different forms, they all lead to severe disability and share common findings at muscle biopsy.
Aldobrando Broccolini, Mario Pescatori, Adele D’Amico, Andrea Sabino, Gabriella Silvestri, Enzo Ricci, Serenella Servidei, P. Tonali, Massimiliano Mirabella   +8 more
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GENE VARIANTS ASSOCIATED WITH THROMBOCYTOPENIA WITH OR WITHOUT GNE MYOPATHY

Molecular Genetics and Metabolism, 2022
Jessica Jang, Marjan Huizing, Andrea Bowling, Caitlin Yuan, Nuria Carrillo, William A. Gahl, Francis Rossignol   +6 more
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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.
Kapila Awasthi, Sudha Bhattacharya, Alok Bhattacharya   +2 more
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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
Xuan Guo, Zhe Zhao, Hongrui Shen, Qi Bing, Nan Li, Jiannan Chen, Jing Hu   +6 more
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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
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