Results 141 to 150 of about 215,605 (258)

Preliminary Evidence Suggests the Transcriptomic Response of Tricolored Bats to White‐Nose Syndrome Is Similar but Not Identical to That of Little Brown Bats

Ecology and Evolution, Volume 16, Issue 11, November 2026.
In this study, we evaluate gene expression of tricolored bats in response to white‐nose syndrome and compare it to that of little brown bats. We found that tricolored bats show evidence of a similar transcriptomic immune response to little brown bats, sharing pathways and some genes.
Robert E. Kwait, Evan A. Eskew, Maanasvi Balasubramanian, Sarah A. Gignoux‐Wolfsohn, Malin L. Pinsky, Brooke Maslo   +5 more
wiley   +1 more source

Gene‐Guided Therapy in Type 2 Diabetes Mellitus: An Integrative Review of the Pharmacogenetics of Metformin and Sodium‐Glucose Cotransporter‐2 Inhibitors

Endocrinology, Diabetes &Metabolism, Volume 9, Issue 6, November 2026.
Genetic variation influences the pharmacological response to metformin and SGLT2 inhibitors in patients with type 2 diabetes mellitus. Pharmacogenetic biomarkers affecting drug transport, metabolism and target activity contribute to inter‐individual differences in treatment efficacy and adverse effects, supporting the implementation of personalized ...
Imran Hossain, Mahnoor Haidar, Mahfuj Ahmed Ratul, Jannatul Ferdous Sumona, Sraboni Shabnaz, Abul Fojal Nokib, Fatema‐Tuz‐Zohora   +6 more
wiley   +1 more source

Consensus Guidelines for Diagnosis and Management of Pyruvate Dehydrogenase Complex Deficiency

Journal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.
ABSTRACT Primary pyruvate dehydrogenase complex deficiency (PDCD) comprises a group of monogenic disorders caused by pathogenic variants in genes encoding subunits of, or regulatory components affecting, the pyruvate dehydrogenase complex. The clinical phenotype spans a broad continuum, ranging from early onset congenital lactic acidosis to infantile ...
Nandaki Keshavan, Julia Neugebauer, Marcello Bellusci, Enrico Bertini, Garry Brown, Niklas Darin, Suzanne DeBrosse, Lucy Drexler, Stefan Drexler, Gregory M. Enns, Rebecca D. Ganetzky, Kelly Gilbert, Austin Larson, Rebecca Legi, April N. Lehman, Camile Newby, Manuel Schiff, Rachel Skeath, Peter W. Stacpoole, Sarah Thompson, Emma Watt, Saskia B. Wortmann, Jirair K. Bedoyan, Shamima Rahman   +23 more
wiley   +1 more source

Tailored Amino Acid Treatment for Pediatric Patients With Mitochondrial Aminoacyl‐tRNA Synthetase Deficiencies

Journal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.
ABSTRACT Aminoacyl‐tRNA synthetases (ARSs) facilitate the loading of transfer RNAs with their cognate amino acids in the cytosol (ARS1), mitochondria (ARS2), or both (dual ARS). ARS deficiencies are clinically heterogeneous and can cause severe, occasionally fatal disease.
I. J. J. Muffels, G. Kok, Z. Tang, L. S. Medeiros, F. O. Poswar, W. P. Vermeij, R. Rodenburg, K. Smit, S. K. Sukumaran, S. B. Wortmann, L. Averdunk, J. Munch, J. Pak‐lam Ho, A. M. K. Kwok, E. E. S. Nieuwenhuis, P. M. van Hasselt, I. V. D. Schwartz, C. M. A. Lubout, A. M. Bosch, K. Koop, E. M. M. Hoytema van Konijnenburg, S. A. Fuchs   +21 more
wiley   +1 more source

Type B Lactic Acidosis: Diagnosis, Etiology and Treatment - An Educational Review. [PDF]

Cardiol Res
Cardenas Fimbres JA, Cardenas Fimbres JM, Stewart C, Tobias JD.   +3 more
europepmc   +1 more source

Dichloroacetate Improves Animal Survival, Growth, Neuromuscular Activity, Mitochondrial Stress and Physiology, and Elevated Lactate in C. elegans pdha‐1 and dld‐1 RNAi Models of Pyruvate Dehydrogenase Complex Deficiency (PDCD)

Journal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.
ABSTRACT Pyruvate dehydrogenase complex (PDHc) deficiency (PDCD) is a primary mitochondrial disorder characterized by neurodevelopmental disability, altered intermediary metabolism, and early mortality. Dichloroacetate (DCA), a pyruvate analog, activates PDHc and remains under clinical investigation for treatment of PDCD.
Cristina Remes, Neal D. Mathew, Victoria Miranda, Suraiya Haroon, Tyler O'Hara, Vernon E. Anderson, Manuela Lavorato, Kelsey Keith, Rui Xiao, Eiko Nakamaru‐Ogiso, Marni J. Falk   +10 more
wiley   +1 more source

Revisiting Inherited Metabolic Diseases (IMDs) Through the Lens of Selective Autophagy

Journal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.
ABSTRACT Selective autophagy is increasingly recognized as a fundamental quality‐control mechanism that complements bulk autophagy by enabling the targeted degradation of specific intracellular cargos, including mitochondria, endoplasmic reticulum (ER), lipid droplets, glycogen, peroxisomes, ferritin, ribosomes, and protein aggregates.
Marianna Maddaluno, Laura Cinque, Viviana Cetrangolo, Chiara De Leonibus   +3 more
wiley   +1 more source

Severe Metformin Intoxication Resulting in Extreme Lactic Acidosis. [PDF]

J Med Cases
Kozárová M, Kozelová Z, Perečinský S, Švec D, Šalamonová Blichová L.   +4 more
europepmc   +1 more source

Dual Urea Cycle Dysfunction Caused by Coexisting Argininosuccinic Aciduria and Citrin Deficiency: Clinical, Biochemical, and Molecular Insights From an Exceptional Case

JIMD Reports, Volume 67, Issue 6, November 2026.
ABSTRACT Dual inherited defects affecting urea cycle function are exceptionally rare. We report the first case, to our knowledge, of the coexistence of argininosuccinic aciduria (ASA) and citrin deficiency (CD). A girl born to consanguineous Tunisian parents presented at 6 months of age with recurrent seizures, vomiting, developmental delay, and severe
Mouna Zribi, Mariem Bhouri, Safa Khatrouch, Hela Boudabous, Johannes Häberle, Mohamed Slim Abdelmoula, Amel Ben Chehida   +6 more
wiley   +1 more source

Severe Metformin-Associated Lactic Acidosis-A Case Report. [PDF]

Clin Case Rep
Artinyan E, Nikolov G, Valcheva E, Baniya P, Sritharan D, Khan A, Vaysilova M, Dimov N.   +7 more
europepmc   +1 more source