Results 71 to 80 of about 15,514 (222)

Caenorhabditis elegans as an in vivo model system for human inherited primary arrhythmia syndromes

The Journal of Physiology, EarlyView.
Abstract figure legend Most genes involved in inherited primary arrhythmia syndromes (IPAS) are conserved in Caenorhabditis elegans, where genetic manipulation enables functional characterization of variants, identification of regulatory proteins, and in vivo drug testing.
Antoine Delinière, Thomas Boulin, Maëlle Jospin, Alexandre Janin, Gilles Millat, Philippe Chevalier, Olga Andrini   +6 more
wiley   +1 more source

Yeast Models of Phosphomannomutase 2 Deficiency, a Congenital Disorder of Glycosylation

G3: Genes, Genomes, Genetics, 2019
Phosphomannomutase 2 Deficiency (PMM2-CDG) is the most common monogenic congenital disorder of glycosylation (CDG) affecting at least 800 patients globally.
Jessica P. Lao, Nina DiPrimio, Madeleine Prangley, Feba S. Sam, Joshua D. Mast, Ethan O. Perlstein   +5 more
doaj   +1 more source

Retinal Degeneration Caused by Rod-Specific Dhdds Ablation Occurs without Concomitant Inhibition of Protein N-Glycosylation

iScience, 2020
Summary: Dehydrodolichyl diphosphate synthase (DHDDS) catalyzes the committed step in dolichol synthesis. Recessive mutations in DHDDS cause retinitis pigmentosa (RP59), resulting in blindness.
Sriganesh Ramachandra Rao, Lara A. Skelton, Fuguo Wu, Agnieszka Onysk, Grzegorz Spolnik, Witold Danikiewicz, Mark C. Butler, Delores A. Stacks, Liliana Surmacz, Xiuqian Mu, Ewa Swiezewska, Steven J. Pittler, Steven J. Fliesler   +12 more
doaj   +1 more source

Glycan Engineering for Cell and Developmental Biology [PDF]

, 2016
Cell-surface glycans are a diverse class of macromolecules that participate in many key biological processes, including cell-cell communication, development, and disease progression.
Griffin, Matthew E., Hsieh-Wilson, Linda C.   +1 more
core   +1 more source

Coordinated regulation of PIEZO2 by alternative splicing, post‐translational modification, membrane trafficking and protein partners

The Journal of Physiology, EarlyView.
Abstract figure legend Regulatory mechanisms such as alternative splicing, post‐translational modification, membrane trafficking, and protein interactions control channel gating, membrane abundance, and overall activity of PIEZO2. Proper regulation supports PIEZO2‐dependent proprioceptive, somatosensory, nociceptive, pruriceptive and interoceptive ...
Eunice I. Oribamise, Qinglu Li, Mary G. Garry   +2 more
wiley   +1 more source

Deficiency of the first mannosylation step in the N-glycosylation pathway causes congenital disorder of glycosylation type Ik [PDF]

, 2017
Defects of N-linked glycosylation represent diseases with multiple organ involvements that are classified as congenital disorders of glycosylation (CDG).
Aebi, Markus, Berger, Eric G., Frank, Christian G., Grubenmann, Claudia E., Hennet, Thierry, Hülsmeier, Andreas J., Matthijs, Gert, Mayatepek, Ertan, Schollen, Els   +8 more
core  

Oxidative Stress in the Tumor Immune Microenvironment: Mechanisms and Therapeutic Perspectives

MedComm – Oncology, Volume 5, Issue 2, June 2026.
Oxidative stress is involved in several key processes in cancer, including redox regulation, DNA damage, post‐translational modifications, transcriptional regulation, epigenetic modifications, metabolic reprogramming, cell death, and immune modulation. These mechanisms collectively influence tumor progression, immune evasion, and therapeutic responses,
Zhen Wang, Bowen Li, Pan Tang, Fanchen Yan, Shuxin Wang, Guiying Leng, Panduo Dawa, Yuansi Chen, Yihan Guo, Pan Yang, Yi Li, Siyu Liu, Erdan Dong, Siyuan Qin, Zhoufeng Wang   +14 more
wiley   +1 more source

Immunoglobulin G Levels in Yemeni Preterm Newborns: Infant Factors Predominate

Reproductive, Female and Child Health, Volume 5, Issue 2, June 2026.
ABSTRACT Background IgG levels in preterm infants play a crucial role in response to infection and inflammation. Infectious disease burden in the low‐income countries, such as Yemen, exacerbates the problem. The preterm infant's IgG sources are either maternal or fetal immune system.
Antar F. A. M. Al‐Badani, Jamil M. A. S. Obaid, Safana M. H. Al‐Sofi, Rahma A. S. Al‐Mansoub   +3 more
wiley   +1 more source

Fitusiran treatment modulates the ratio between alpha‐ and beta‐antithrombin isoforms

HemaSphere, Volume 10, Issue 5, May 2026.
Abstract Antithrombin (AT) circulates as two distinct isoforms, alpha‐ and beta‐AT, which differ in their glycosylation profiles; alpha‐AT is fully glycosylated at positions Asn128, Asn167, Asn187, and Asn224, whereas beta‐AT lacks Asn167 glycosylation.
Geneviève McCluskey, Hortense Maynadié, Delphine Borgel, Laurent Frenzel, Annie Harroche, Elsa Bianchini, Stephanie Roullet, Olivier D. Christophe, Cecile V. Denis, Caterina Casari, Peter J. Lenting   +10 more
wiley   +1 more source

Case report: Novel NUS1 variant in a Chinese patient with tremors and intellectual disability

Frontiers in Genetics
Introduction:Nuclear undecaprenyl pyrophosphate synthase 1 (NUS1) gene variants are associated with a range of phenotypes, including epilepsy, intellectual disability, cerebellar ataxia, Parkinson’s disease, dystonia, and congenital disorders of ...
Ruolin Li, Jiayi Yang, Jinfeng Ma, Aimei Zhang, Hongfang Li   +4 more
doaj   +1 more source