Results 171 to 180 of about 33,228 (280)

Newborn Screening of Primary Carnitine Deficiency: An Overview of Worldwide Practices and Pitfalls to Define an Algorithm before Expansion of Newborn Screening in France. [PDF]

Int J Neonatal Screen, 2023
Lefèvre CR, Labarthe F, Dufour D, Moreau C, Faoucher M, Rollier P, Arnoux JB, Tardieu M, Damaj L, Bendavid C, Dessein AF, Acquaviva-Bourdain C, Cheillan D.   +12 more
europepmc   +1 more source

Potential health benefits of cold‐water immersion: the central role of PGC‐1α

The Journal of Physiology, EarlyView.
Abstract figure legend Cold‐water immersion (CWI) elicits autonomic, somato‐motoric (shivering thermogenesis), endocrine and metabolic, sensory transduction, and local biophysical effects that may converge on the transcriptional co‐activator PGC‐1α (centre).
Erich Hohenauer, Wafa Douzi, Johannes Burtscher   +2 more
wiley   +1 more source

BiGraph‐DTA: Predicting drug–target interactions of hepatoprotective agents with graph convolutional networks

Quantitative Biology, Volume 14, Issue 1, March 2026.
Abstract Predicting drug–target affinity (DTA) is critical for discovering and developing hepatoprotective agents that can prevent and treat liver diseases. In this study, we propose BiGraph‐DTA, a new predictive model for identifying DTA score prediction for hepatoprotective compounds by combining graph convolutional networks and bidirectional long ...
Arief Sartono, Bambang Riyanto Trilaksono, Sophi Damayanti, Anto Satriyo Nugroho, Firdayani Firdayani   +4 more
wiley   +1 more source

Evaluating the causal relationship of Levo-carnitine and risk of schizophrenia: a bidirectional two-sample mendelian randomization study

BMC Psychiatry
Background Schizophrenia is a debilitating mental disorder affecting about 1% of the global population, characterized by significant cognitive impairments and a strong hereditary component.
Haoyuan Qiu, Zicheng Zhong, Tianxing Wu, Haoran Hu, Meijuan Zhou, Zhijun Feng   +5 more
doaj   +1 more source

Biogenesis of Organelles and Membrane Proteins. [PDF]

, 1988
Harmey, Matthew A., Neupert, Walter, Nicholson, Donald W., Stuart, Rosemary A.   +3 more
core   +1 more source

Sertraline‐Associated Riboflavin‐Responsive Lipid Storage Myopathy: Report of Two Case

Muscle &Nerve, Volume 73, Issue 2, Page 309-312, February 2026.
Sertraline exposure can lead to an acquired riboflavin‐responsive multiple acyl‐CoA dehydrogenase deficiency (MADD). In patients with this acquired form of MADD, riboflavin supplementation can even lead to full clinical recovery and marked serological recovery before discontinuation of sertraline.
Aziz Shaibani, Alexis Taylor
wiley   +1 more source

Acyl‐CoA Binding Protein in White and Brown Adipose Tissue Is Dispensable for Systemic Energy Metabolism in Mice

Acta Physiologica, Volume 242, Issue 2, February 2026.
ABSTRACT Aim Acyl‐CoA binding protein plays a vital role in lipid metabolism by mediating the intracellular flux and utilization of long‐chain acyl‐CoAs. We generated an adipocyte‐wide ACBP knockout mouse and a brown adipose tissue‐specific ACBP knockout mouse to investigate ACBP function in adipose tissue.
M. F. Nørremark, R. Petersen, P. M. M. Ruppert, E. S. Jul, T. K. Doktor, R. Nielsen, J. F. Kappel, S. Larsen, J. W. Kornfeld, S. Mandrup, B. S. Andresen, J. Havelund, D. Neess, N. J. Færgeman   +13 more
wiley   +1 more source

Evidence for Linkage of Human Primary Systemic Carnitine Deficiency with D5S436: A Novel Gene Locus on Chromosome 5q [PDF]

, 1998
Yutaka Shoji, Akio Koizumi, Tsuyoshi Kayo, Tomoaki Ohata, Tsutomu Takahashi, Kenji Harada, Goro Takada   +6 more
openalex   +1 more source

Diabetes management in maternally inherited diabetes and deafness (MIDD): A review and a proposed treatment algorithm

Diabetes, Obesity and Metabolism, Volume 28, Issue 2, Page 826-839, February 2026.
Abstract Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder usually caused by the variant m.3243A>G in the MT‐TL1 gene. We have proposed that diabetes in MIDD arises from a combination of insulin resistance and impaired β‐cell function that is more likely to occur in the presence of high skeletal muscle heteroplasmy and ...
Ahsen Chaudhry, David M. Thompson, Jean‐Pierre Chanoine   +2 more
wiley   +1 more source

Response to Chen et al.: Carnitine Uptake Defect (Primary Carnitine Deficiency): Risk in Genotype-Phenotype Correlation [PDF]

, 2013
Marzia Pasquali, Nicola Longo
openalex   +1 more source