Results 161 to 170 of about 498,738 (286)

Expanding the Phenotype of TUFM‐Related Combined Oxidative Phosphorylation Deficiency 4

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier, Jodi Warman‐Chardon, Danielle K. Bourque   +2 more
wiley   +1 more source

Methionine Restriction Alone Induces T-cell-mediated Immunotherapy of Osteosarcoma in a Syngeneic Mouse Model. [PDF]

In Vivo
Mizuta K, Kubota Y, Aoki Y, Morinaga S, Asano Y, Miyashi Y, Bouvet M, Tome Y, Nishida K, Hoffman RM.   +9 more
europepmc   +1 more source

Molecular Profiling of Genes Associated With Methylphenidate Pathway Therapy and Discovery of New Variants in Amazonian Amerindian Populations

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT In Attention Deficit Hyperactivity Disorder (ADHD), methylphenidate is one of the most widely used drugs, in which patient response significantly impacts prognosis. This study aimed to characterize the molecular profile of 10 genes associated with methylphenidate therapy.
Aline Pasquini Santos, Tatiane Carinta de Souza, Kaio Evandro Cardoso Aguiar, Ana Caroline Alves da Costa, Natasha Monte, Juliana Carla Gomes Rodrigues, Giovanna Gilioli da Costa Nunes, Rita de Cássia Calderaro Coelho, Ândrea Ribeiro‐dos‐Santos, André Maurício Ribeiro dos Santos, Sandro José de Souza, Sidney Emanuel Batista dos Santos, Rommel Mario Rodriguez Burbano, Marianne Rodrigues Fernandes, Ney Pereira Carneiro dos Santos   +14 more
wiley   +1 more source

Harnessing Methyltransferase‐Guided Targeting for Sequence‐Specific Proximity Labeling of DNA

Angewandte Chemie, EarlyView.
A novel methyltransferase‐mediated approach leveraging rationally designed S‐adenosyl‐L‐methionine (SAM) analogues was developed to achieve sequence‐specific DNA labeling but in proximity to the natural transfer site, addressing key limitations of previously established methods, including ligand instability and methylation‐sensitive labeling.
Xiong Chen, Gang Wen, Niels Ooghe, Sergey Abakumov, Taoufik Rohand, Volker Leen, Peter Dedecker, Tanja Weil, Johan Hofkens   +8 more
wiley   +2 more sources

Methionine restriction provides sex-specific protection against high-fat diet-induced adiposity, peripheral insulin resistance, and neuroinflammation in FGF21-dependent and independent manners in mice. [PDF]

PLoS One
Lail H, Lawrence R, Pinheiro F, Price E, Wanders D.   +4 more
europepmc   +1 more source

Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Polyaminopathies are a recently described family of rare genetic neurodevelopmental disorders. Polyaminopathies disrupt the biosynthesis of the primary polyamines: putrescine, spermidine, and spermine. Snyder–Robinson syndrome results from hemizygous loss‐of‐function variants in the spermine synthase (SMS) gene, resulting in decreased or ...
Elizabeth A. VanSickle, Sara M. Sarasua, Tracy Lowe, Christopher L. Farrell, Luigi Boccuto, Charles Schwartz, Anthony E. Pegg, Angela Peron, Victor Faundes, Mythily Ganapathi, Wendy K. Chung, Alban Ziegler, Floris Hofstede, Clément Prouteau, Katharina Steindl, Colleen Olson, Orrin Devinsky, Teresa L. Mastracci, Robert A. Casero Jr., Tracy Murray Stewart, Susan Gilmour, Teri Koerner, Mary Jo Kutler, Surender Rajasekaran, Julianne Michael, André S. Bachmann, Caleb P. Bupp   +26 more
wiley   +1 more source

The Role of Chemistry Across Disciplines From Humanities to Life Sciences in Understanding Complexity and Emergence

Angewandte Chemie, EarlyView.
This study explores the origins of life by linking prebiotic chemistry, the emergence of information‐carrying molecules such as RNA and proteins, and philosophical questions about consciousness. The study emphasizes the role of molecular evolution in the Central Dogma and provides insights into the chemical origins of biology and the basis of life's ...
Harald Schwalbe, Josef Wachtveitl, Alexander Heckel, Florian Buhr, Sabrina Toews, Thomas M. Schimmer   +5 more
wiley   +2 more sources

Stereochemical and Structural Characterization of Methionine Oxidation in the IgG1 Fc Region by Integrated NMR and LC-MS Analysis. [PDF]

Anal Chem
Yagi-Utsumi M, Yanaka S, Hashii N, Tomita K, Misawa T, Demizu Y, Ishii-Watabe A, Kato K.   +7 more
europepmc   +1 more source

Quantitative proteomics identifies clusterin as a novel biomarker for atherosclerosis

Animal Models and Experimental Medicine, EarlyView.
This schematic illustrates the proposed mechanism. In advanced atherosclerotic lesions, upregulated CLU on the cell surface activates low‐density lipoprotein (LDL) receptor‐related protein 1 (LRP1). This interaction triggers the phosphorylation and activation of AKT.
Dengfeng Ding, Yingjie Zhang, Li Zhang, Xinou Zheng, Miaomiao Niu, Yunxiao Jia, Xuezhuang Li, Hua Chen, Chao Guo, Tao Jiang, Yuqiong Zhao   +10 more
wiley   +1 more source

Response of mid-lactation primiparous Holstein cows to the supplementation of rumen-protected methionine during the summer. [PDF]

PLoS One
Monteiro CR, de Oliveira VA, Schmith R, Rezende JPA, Resende TL, Negrão JA, Danés MAC.   +6 more
europepmc   +1 more source