Results 51 to 60 of about 1,686 (146)

Red blood cells could protect miRNAs from degradation or loss thanks to Argonaute 2 binding

FEBS Open Bio, Volume 15, Issue 5, Page 810-821, May 2025.
The present work investigates the presence and the stability of miRNAs into RBCs, both native and engineered. The observed stability is due to the Ago2 bound resulting in minimal RISC. Indeed, if the miRNA‐Ago2 complex is present, miRNAs are protected from release or degradation and they are biologically active. Thus, RBCs can act as miRNA carriers for
Elena Perla, Faiza Abbas, Luigia Rossi, Mauro Magnani, Sara Biagiotti   +4 more
wiley   +1 more source

Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study

, 2018
Purpose: Guanidinoacetate methyltransferase (GAMT) deficiency is an autosomal recessive disorder caused by pathogenic variants in GAMT. Brain creatine depletion and guanidinoacetate accumulation cause developmental delay, seizures and movement disorder ...
Ballhausen, Diana, Mercimek-Andrews, Saadet, Salomons, Gajja S., Buoni, S, Jacquemont, Marie-Line, Koeberl, Dwight D., Dwight D. Koeberl, Abdenur, J, Lund, A.M., Goldstein, J, Billette de Villemeur, T., Dorison, N., Dorison, Nathalie, David Cheillan, Jose Abdenur, Raspall-Chaure, M, Diana Ballhausen, Pitelet, G., Saadet Mercimek-Andrews, Goldenberg, A., Declan O'Rourke, Ballhausen, D, Raspall-Chaure, M., Khaikin, Yannay, Raspall-Chaure, Miquel, de Villemeur, TB, Alicia Chan, Jacquemont, M.L., Allan Meldgaard Lund, Dorison, N, Anastasi, Arnaud, Chan, Alicia, Floris C. Hofstede, Monique Williams, Tassini, M., Salomons, G.S., Hofstede, FC, Jacquemont, Marie Line, Abdenur, J., Yannay Khaikin, Karine Mention, Alice Goldenberg, Marie-Line Jacquemont, Mundy, H., Lund, AM, Laurence Lion-Francois, Gaele Pitelet, Arnaud Anastasi, Sidky, S, O'Rourke, Declan, Goldenberg, A, Hofstede, F.C., Goldstein, Jennifer, Cheillan, D, Salomons, GS, Meldgaard Lund, Allan, Tassini, Maria, Sidky, S., Jacquemont, ML, Sarah Sidky, Miquel Raspall-Chaure, Anastasi, A., Helen Mundy, Maria Tassini, Jennifer Goldstein, Goldstein, J., Khaikin, Y, Buoni, Sabrina, Abdenur, Jose, Khaikin, Y., O'Rourke, D, Hofstede, Floris C., Mercimek-Andrews, S., Lion-Francois, L., Ballhausen, D., Williams, M., Mention, K., O'Rourke, D., Pitelet, Gaele, Buoni, S., Mention, Karine, Billette de Villemeur, Thierry, Goldenberg, Alice, Mundy, Helen, Gajja S. Salomons, Cheillan, D., Sidky, Sarah, Pitelet, G, Thierry Billette de Villemeur, Lion-Francois, Laurence, Anastasi, A, Chan, A, Mundy, H, Sabrina Buoni, Cheillan, David, Lion-Francois, L, Mercimek-Andrews, S, Tassini, M, Mention, K, Chan, A., Williams, Monique, Nathalie Dorison, Koeberl, D.D., Koeberl, DD, Lund, Allan Meldgaard   +104 more
core   +1 more source

CARE Checklist for GAMT Research

, 2022
The attached file is a CARE checklist used for a research project entitled "Phenotypic and Molecular Spectrum of Guanidinoacetate N-Methyltransferase deficiency: An Analytical Study of a Case Series and a Scoping Review of 53 Cases of Guanidinoacetate N ...
Layan Baaishrah (12915516), Mohammed Shawli (12915504), Yara Aljefri (12915515), Abdulaziz Jambi (12915536), Anas Alyazidi (12836195), Fahad Alotibi (12915512), Osama Muthaffar (12915507), Renad Ahmed (12915510)   +7 more
core   +1 more source

Unraveling the Interplay Between Metabolism and Neurodevelopment in Health and Disease

CNS Neuroscience &Therapeutics, Volume 31, Issue 5, May 2025.
Neurodevelopment is orchestrated by precise metabolic regulation. Key metabolic processes—glucose, lipid, and amino acid metabolism—drive cell proliferation, differentiation, synaptogenesis, and neurotransmitter synthesis. These are tightly integrated with signaling pathways like mTOR, AMPK, and insulin/IGF that regulate neuronal growth and synaptic ...
Yanqing He, Kang Xie, Kang Yang, Nianhua Wang, Longbo Zhang   +4 more
wiley   +1 more source

PRISMA Scoping Review Checklist for GAMT Research

, 2022
The attached file is a PRISMA checklist used for a research project entitled "Phenotypic and Molecular Spectrum of Guanidinoacetate N-Methyltransferase deficiency: An Analytical Study of a Case Series and a Scoping Review of 53 Cases of Guanidinoacetate ...
Layan Baaishrah (12915516), Mohammed Shawli (12915504), Abdulaziz Jambi (12915536), Yara Aljefri (12915515), Anas Alyazidi (12836195), Fahad Alotibi (12915512), Osama Muthaffar (12915507), Renad Ahmed (12915510)   +7 more
core   +1 more source

A creatine efflux transporter in oligodendrocytes

The FEBS Journal, Volume 292, Issue 5, Page 1124-1140, March 2025.
Creatine deficiency leads to severe neurodevelopmental disorders. In the brain, creatine is synthesized by oligodendrocytes to supply neighboring neurons. While SLC6A8 mediates neuronal uptake, the creatine release mechanism was unclear. Our results establish SLC22A15 as a key creatine efflux transporter.
Svenja Flögel, Miriam Strater, Dietmar Fischer, Dirk Gründemann   +3 more
wiley   +1 more source

Novel antibiotics from DNA adenine methyltransferase inhibitors

, 2011
The re-emergence of plague as a world-wide health concern and the potential risk posed by bioterrorism has led to an increased interest in available treatments for the disease.
McKelvie, Jennifer C.
core  

Transmethylation pathway: aberrancy in methyltransferase reactions in diet-induced NAFLD.

, 2015
(A) Heat map representation of substrates and methylated products of major SAM-derived transmethylation reactions (PEMT, GNMT, GAMT and PRMT) with HFHC diet for 52 weeks.
Sophie Cazanave (790421), Eoin Quinlivan (790424), Arun J. Sanyal (306877), Aurora Verdianelli (790422), Hae-Ki Min (605820), Tommy Pacana (790420), Faridoddin Mirshahi (790423), Vaishali Patel (2004124)   +7 more
core   +1 more source

Mechanisms of Homoarginine: Looking Beyond Clinical Outcomes

Acta Physiologica, Volume 241, Issue 2, February 2025.
Abstract Purpose Homoarginine (hArg) is an arginine metabolite that has been known for years, but its physiological role in the body remains poorly understood. For instance, it is well known that high hArg concentrations in the blood are protective against several disease states, yet the mechanisms behind these health benefits are unclear.
Ashley Zubkowski, Amanda N. Sferruzzi‐Perri, David S. Wishart   +2 more
wiley   +1 more source

Brain creatine depletion: Guanidinoacetate methyltransferase deficiency (improving with creatine supplementation)

, 2000
The authors describe an Italian child with guanidinoacetate methyltransferase deficiency, neurologic regression, movement disorders, and epilepsy during the first year of life. Brain MRI showed pallidal and periaqueductal alterations.
CIONI G., CARDUCCI, Claudia, CERQUIGLINI, Antonella, BIANCHI M. C., TOSETTI M., LEUZZI, Vincenzo, ANTONOZZI, Italo   +6 more
core