Results 71 to 80 of about 2,519,227 (189)

Substantial deficiency of free sialic acid in muscles of patients with GNE myopathy and in a mouse model. [PDF]

PLoS ONE, 2017
GNE myopathy (GNEM), also known as hereditary inclusion body myopathy (HIBM), is a late- onset, progressive myopathy caused by mutations in the GNE gene encoding the enzyme responsible for the first regulated step in the biosynthesis of sialic acid (SA).
Yiumo Michael Chan, Paul Lee, Steve Jungles, Gabrielle Morris, Jaclyn Cadaoas, Alison Skrinar, Michel Vellard, Emil Kakkis   +7 more
doaj   +1 more source

GNE Myopathy with Congenital Thrombocytopenia [PDF]

, 2018
GNE myopathy is a distal dominant myopathy with characteristic sparing of quadriceps, which is known to be caused by mutation of the GNE gene. Recently, there were some reports of thrombocytopenia that concurred with GNE myopathy. We also present a case
최영철, 이정환, 김세훈, 허준녕, 신하영   +4 more
core  

A Case of GNE Myopathy Presenting a Rapid Deterioration during Pregnancy [PDF]

, 2013
BACKGROUND: GNE myopathy is characterized by early-adult-onset distal myopathy sparing quadriceps caused by mutations in the GNE gene encoding UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase, an enzyme in the sialic-acid synthesis pathway.
최영철, 홍지만, 서경임
core   +1 more source

Distal myopathy with rimmed vacuoles: Spectrum of GNE gene mutations in seven Chinese patients

Experimental and Therapeutic Medicine, 2018
Distal myopathy with rimmed vacuoles (DMRV) is a rare, autosomal, recessive inherited disease caused by mutations in the GNE gene. DMRV is an adult-onset disorder characterized by progressive muscle atrophy and weakness, which initially involves the distal muscles with quadriceps sparing.
Feifei, Su, Jing, Miao, Xuemei, Liu, Xiaojing, Wei, Xuefan, Yu   +4 more
openaire   +3 more sources

Prmt6 Deficiency Drives Osteoblast Senescence Promoting Age‐Related Osteoporosis via Epigenetic Remodelling of the H3R2me2a/Sting/Ifitm3 Pathway

Journal of Cellular and Molecular Medicine, Volume 30, Issue 18, September 2026.
ABSTRACT Protein arginine methyltransferase 6 (Prmt6), an epigenetic regulator, plays an unclear role in bone homeostasis and osteoblast senescence. In this study, we employed Western blot, qPCR, immunofluorescence, SA‐β‐Gal staining, and RNA‐seq to systematically investigate the regulatory mechanism of the Prmt6/H3R2me2a/Sting/Ifitm3 axis in ...
Yuxue Wang, Xiaoyong Ge, Shengjie Chang, Diankai Wang, Ke Xu, Haowei Xu, Xiaowei Liu, Shanjin Wang   +7 more
wiley   +1 more source

The proteomic profile of hereditary inclusion body myopathy. [PDF]

PLoS ONE, 2011
Hereditary inclusion body myopathy (HIBM) is an adult onset, slowly progressive distal and proximal myopathy. Although the causing gene, GNE, encodes for a key enzyme in the biosynthesis of sialic acid, its primary function in HIBM remains unknown.
Ilan Sela, Irit Milman Krentsis, Zipora Shlomai, Menachem Sadeh, Ron Dabby, Zohar Argov, Hannah Ben-Bassat, Stella Mitrani-Rosenbaum   +7 more
doaj   +1 more source

Antibody–Drug Conjugates and Peptide–Drug Conjugates: Current Understandings and Future Perspectives

MedComm, Volume 7, Issue 8, August 2026.
The graphic summarizes the design principles, intracellular trafficking, clinical progress, challenges, and future directions of antibody–drug conjugates (ADCs) and peptide–drug conjugates (PDCs). ADCs consist of a tumor‐targeting antibody, a chemical linker, and a potent payload, whereas PDCs use peptide ligands to deliver cytotoxic, radionuclide, or ...
Ruxi Zheng, Shuiquan Li, Zhigang Zhang, Mengke Niu, Jing Fei, Jiaojiao Zhang, Jianwei Zhou, Kongming Wu, Ming Yi, Tianye Li   +9 more
wiley   +1 more source

Lysine l‐Lactylation: Bridging Metabolism, Chromatin and Disease

Cell Proliferation, Volume 59, Issue 8, August 2026.
Enzymatic regulation of KL‐la. The enzymatic regulation of KL‐la involves two distinct pathways for L‐lactate accumulation: intracellular production through glycolysis‐derived pyruvate conversion by lactate dehydrogenase (LDH) or direct cellular uptake via monocarboxylate transporters (MCTs). These L‐lactate pools fuel two distinct lactylation pathways—
Anoosha Malik, Muhammad Dilawar, Junguang Liao, Jie Zheng, Qitao Qian, Ming Xu, Sisi Lin, Xiaobo Zhu, Qiuwei Ge, Limin Jin, Guiqian Chen   +10 more
wiley   +1 more source

Behavioral Deficits in Juvenile Onset Huntington’s Disease

Brain Sciences, 2020
Reports of behavioral disturbance in Juvenile-Onset Huntington’s Disease (JOHD) have been based primarily on qualitative caregiver reports or retrospective medical record reviews.
Kathleen E. Langbehn, Ashley M. Cochran, Ellen van der Plas, Amy L. Conrad, Eric Epping, Erin Martin, Patricia Espe-Pfeifer, Peg Nopoulos   +7 more
doaj   +1 more source

Along the Benthic to Holoplanktonic Continuum: Seafloor Affinity Increases Distance‐Decay Rates Among Abyssal Communities

Global Ecology and Biogeography, Volume 35, Issue 8, August 2026.
ABSTRACT Aim Marine species ranges are often large, contributing to relatively high community similarity over space, with decreased ranges expected among taxa that have lower dispersal and/or higher substrate requirements. We tested for a weakening of biogeographic structuring among dispersing abyssal taxa along the benthic to holoplanktonic habitat ...
Gabrielle N. Ellis, Oliver Kersten, Eric Vetter, Craig R. Smith, Jeffrey C. Drazen, Erica Goetze   +5 more
wiley   +1 more source