Results 111 to 120 of about 38,696 (225)

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

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

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

Metformin-Associated Lactic Acidosis [PDF]

Endocrinology and Metabolism, 2015
Sunghwan Suh
doaj   +1 more source

Correction: Late-onset mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes with chronic intestinal pseudo-obstruction: a case-based review. [PDF]

Front Mol Biosci
Zhang L, Lin J, Li F, Jia Y, Li J, Wang X.   +5 more
europepmc   +1 more source

Fatty Acid Oxidation Disorders Detected by Newborn Screening: Clinical, Biochemical and Genetic Spectrum in a Single‐Center Cohort

JIMD Reports, Volume 67, Issue 6, November 2026.
ABSTRACT Newborn screening (NBS) has significantly improved early detection and survival in fatty acid oxidation disorders (FAODs). However, the expanding phenotypic spectrum challenges prognostic stratification, and long‐term morbidity remains incompletely characterized.
Elena Martín‐Hernández, Delia Barrio‐Carreras, María Martín‐Cazaña, Luis Miguel García‐Cárdaba, Carmen Martín‐Fernández, Patricia Pérez‐Mohand, Teresa Hernández Chamorro, Berta Zamora Crespo, Pedro Ruiz‐Sala, Patricia Alcaide Alonso, Pilar Quijada‐Fraile   +10 more
wiley   +1 more source

The Lactic Acidosis Syndromes [PDF]

Diabetes, 1963
openaire   +2 more sources

Impaired liver-muscle lactate metabolism causes sarcopenia via lactic acidosis in skeletal muscle in mice. [PDF]

Sci Adv
Eguchi T, Hayashiji N, Tabata S, Kabetani K, Shintani Y, Makinoshima H, Ito N.   +6 more
europepmc   +1 more source

Protein Lactylation in Cancer: From Mechanisms to Therapy

MedComm, Volume 7, Issue 11, November 2026.
Increased glycolysis and lactate accumulation promote histone and nonhistone protein lactylation, linking tumor metabolic reprogramming to treatment adaptation. Lactylation enhances DNA repair, suppresses antitumor immunity, strengthens antioxidant defenses, and facilitates cell‐cycle checkpoint escape, collectively promoting resistance to chemotherapy,
Wentian Huang, Ping Hu, Shun Wang, Xide Zhang, Ziran Ye, Shengqiang Chen, Fu Gao, Yuanyuan Chen, Yanyong Yang   +8 more
wiley   +1 more source