Results 51 to 60 of about 6,314 (146)

Efficacy and pharmacokinetics of betaine in CBS and cblC deficiencies: a cross-over randomized controlled trial

Orphanet Journal of Rare Diseases, 2022
Background Betaine is an “alternate” methyl donor for homocysteine remethylation catalyzed by betaine homocysteine methyltransferase (BHMT), an enzyme mainly expressed in the liver and kidney.
Apolline Imbard, Artemis Toumazi, Sophie Magréault, Nuria Garcia-Segarra, Dimitri Schlemmer, Florentia Kaguelidou, Isabelle Perronneau, Jérémie Haignere, Hélène Ogier de Baulny, Alice Kuster, François Feillet, Corinne Alberti, Sophie Guilmin-Crépon, Jean-François Benoist, Manuel Schiff   +14 more
doaj   +1 more source

Dental complications in homocystinurias

Molecular Genetics and Metabolism Reports, 2023
Background: Cystathionine beta synthase deficiency (causing classical homocystinuria) has been associated with high-arched palates and crowded teeth, but little has been said about other oral health complications.
Kimberly A. Chapman, Danae Bartke, Vanessa Vogel-Farley, Mary Cobb, Mary Chapman   +4 more
doaj   +1 more source

Overview of Encapsulated Lysine and Methionine and Their Impacts on Transition Cow Performance and Health

Animal Research and One Health, EarlyView.
The transition period in dairy cows, spanning 3 weeks before and after calving, is a critical phase characterized by increased nutrient demands, reduced dry matter intake (DMI), and elevated risk of metabolic disorders such as negative nutrient balance (NNB), lipolysis, proteolysis, and oxidative stress.
Mohammed S. Seleem, Samy A. Elsaadawy, Zhaohai Wu, Lu Ma, Todd R. Callaway, Dengpan Bu   +5 more
wiley   +1 more source

Association of cystathionine beta-synthase polymorphisms and aneurysmal subarachnoid hemorrhage [PDF]

Journal of Neurosurgery, 2018
OBJECTIVECystathionine β-synthase (CBS) is involved in homocysteine and hydrogen sulfide (H2S) metabolism. Both products have been implicated in the pathophysiology of cerebrovascular diseases. The impact of CBS polymorphisms on aneurysmal subarachnoid hemorrhage (aSAH) and its clinical sequelae is poorly understood.METHODSBlood samples from all ...
Philipp, Hendrix, Paul M, Foreman, Mark R, Harrigan, Winfield S, Fisher, Nilesh A, Vyas, Robert H, Lipsky, Mingkuan, Lin, Beverly C, Walters, R Shane, Tubbs, Mohammadali M, Shoja, Jean-Francois, Pittet, Mali, Mathru, Christoph J, Griessenauer   +12 more
openaire   +2 more sources

Duchenne's muscular dystrophy involves a defective transsulfuration pathway activity

Redox Biology, 2021
Duchenne muscular dystrophy (DMD) is the most frequent X chromosome-linked disease caused by mutations in the gene encoding for dystrophin, leading to progressive and unstoppable degeneration of skeletal muscle tissues.
E. Panza, V. Vellecco, F.A. Iannotti, D. Paris, O.L. Manzo, M. Smimmo, N. Mitilini, A. Boscaino, G. de Dominicis, M. Bucci, A. Di Lorenzo, G. Cirino   +11 more
doaj   +1 more source

Role of selenium in the pathophysiology of cardiorenal anaemia syndrome

ESC Heart Failure, Volume 12, Issue 2, Page 770-780, April 2025.
Abstract Chronic kidney disease (CKD) and cardiovascular disease (CVD) have multiple bidirectional mechanisms, and anaemia is one of the critical factors that are associated with the progression of the two disorders [referred to as cardiorenal anaemia syndrome (CRAS)].
Shigeyuki Arai, Minoru Yasukawa, Shigeru Shibata   +2 more
wiley   +1 more source

Advanced extracellular vesicle immunotherapy

FlexMat, EarlyView.
A diagrammatic depiction of the therapeutic applicability of extracellular vesicles (EVs) in immunotherapy. This review explores the dual roles of tumor‐derived and immune cell‐derived EVs in cancer immunotherapy, discusses recent progress in EV engineering that improve their clinical utility, and evaluates their potential to augment existing ...
Jingjing Zhang, Yunfei Mu, Xianyue Ji, Xiaoting Jiang, Ruiheng Wang, Xianguang Ding, Lianhui Wang   +6 more
wiley   +1 more source

Niveles de homocisteína y polimorfismos de los genes de la MTHFR y la CBS en pacientes colombianos con trombosis venosa superficial y profunda

Biomédica: revista del Instituto Nacional de Salud, 2010
Introducción. Se produce trombosis cuando en el sistema hemostático se desequilibran los mecanismos procoagulantes, anticoagulantes y fibrinolíticos, y se forman coágulos dentro de los vasos sanguíneos.
Claudia Ayala, Reggie García, Edith Cruz, Karol Prieto, Marta Bermúdez   +4 more
doaj   +1 more source

Leishmania donovani's protein tyrosine phosphatases interact with DUF21 and respond to environmental magnesium

The FEBS Journal, EarlyView.
The Leishmania phosphatase PTP1, and possibly the genetically similar PTP2, interacts with the Leishmania transmembrane protein DUF21. When both ptp1 and ptp2 are knocked out of Leishmania (LdΔPTP1/2), the parasite can no longer survive without magnesium in vitro and has reduced viability in the host macrophage. Conversely, in duf21 knockout (LdΔDUF21),
Kayla Paulini, Hira Khursheed, Wen Wei Zhang, Isabelle Aubry, Greg Matlashewski, Michel L. Tremblay, Patrick Lypaczewski   +6 more
wiley   +1 more source

The Dual Immunoregulatory Role of CREB3L1 Underlying Latent and Severe Tuberculosis Clinical Manifestation

Immunology, EarlyView.
RNA‐seq of lungs and livers from Mycobacterium tuberculosis‐infected mice with distinct disease outcomes revealed organ‐specific responses driven by differences in immune activity and bacterial burden. Meta‐analysis identified orthologous genes shared with human latent TB and mouse liver, with Creb3l1, Myo7b, Cyyr1 and Cbs differentially expressed and ...
Felipe T. Lima, Ricardo C. Castro, Francisco R. Javier, Caroline Fontanari, Valdes R. Bollela, Rogerio S. Rosada, Célio L. Silva, Lúcia H. Faccioli, Luiz G. Gardinassi, Fabiani G. Frantz   +9 more
wiley   +1 more source