Results 171 to 180 of about 15,103 (215)

Lactate mitochondrial oxidation drives stemness potential in metastatic breast cancer. [PDF]

Nat Commun
Zhang JJ, Tian RF, Song CG, Liu R, He D, Zhang GQ, Fan XY, Duan ZC, Zhang K, Zhang TJ, Chen YT, Zhang J, Wang K, Zhao JM, Yang XM, Chen ZN, Li L.   +16 more
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Beyond cell cycle control: <i>CDKN2A</i> loss is associated with altered NAD⁺ metabolic states and increased sensitivity to NAMPT inhibition in glioblastoma. [PDF]

Neurooncol Adv
Dubey S, Yu G, Aboul-Hosn R, Tse C, Nathanson DA, Lai A, Vossel K, Rodriguez FJ.   +7 more
europepmc   +1 more source

TEAD-targeting small molecules induce a cofactor switch to regulate the Hippo pathway. [PDF]

Proc Natl Acad Sci U S A
Guarnaccia AD, Hagenbeek TJ, Lee W, Kljavin N, Choi M, Tombling B, Peukert C, Ulas G, Kameswaran V, Le D, Paul S, Vaidya S, Zbieg JR, Crawford JJ, Daniel B, Dey A, Lill JR.   +16 more
europepmc   +1 more source

Deploying the high-throughput virtual screening (HTVS) approach for the identification of new lactate dehydrogenase (LDH) inhibitors with anticancer assets. [PDF]

Sci Rep
Huang Y, Benni S, Yadav UP, Babu MA, Verma A, Singh TG, Bansal N, Zhang Y.   +7 more
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
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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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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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