Results 91 to 100 of about 14,220 (236)

Disruption of Mitochondrial Dynamics and Integrity Drives Divergent Metabolic Flexibility and Resilience in Podocytes

The FASEB Journal, Volume 39, Issue 24, 31 December 2025.
We investigated two models of mitochondrial dysfunction in podocytes, using two cell culture models: podocytes isolated from mice with Oma1 deletion (Oma1del) and mouse podocytes modified with an inducible knockdown of PHB2 (Phb2kd). OMA1 deficiency induced a glycolytic shift, enhanced glutamine anaplerosis, and sustained energy homeostasis after ...
Cem Özel, Katrin M. Reitmeier, Emilia Kieckhöfer, Khawla Abualia, Duc Nguyen‐Minh, Mahsa Matin, Henning Hagmann, Richard J. M. Coward, Sebastian Brähler, Philipp Antczak, Bernhard Schermer, Thomas Benzing, Patrick Giavalisco, Paul T. Brinkkoetter   +13 more
wiley   +1 more source

Infant Serum and Maternal Milk Vitamin B-12 Are Positively Correlated in Kenyan Infant-Mother Dyads at 1-6 Months Postpartum, Irrespective of Infant Feeding Practice. [PDF]

, 2018
BackgroundVitamin B-12 is an essential nutrient required for many functions including DNA synthesis, erythropoiesis, and brain development. If maternal milk vitamin B-12 concentrations are low, infants may face elevated risks of deficiency when ...
Achando, Beryl, Allen, Lindsay H, Chantry, Caroline J, Hampel, Daniela, Kiprotich, Marion, Lin, Audrie, Null, Clair A, Shahab-Ferdows, Setareh, Stewart, Christine P, Williams, Anne M   +9 more
core   +3 more sources

Clinical Course of Methylmalonic Aciduria in Siblings: Two Clinical Cases

Current Pediatrics
Background. Methylmalonic aciduria (MMA) is a rare disease from the group of hereditary metabolic diseases. The MMA clinical picture is polymorphic and meanwhile similar to other metabolic disorders.
O. Bugun, G. P. Bogonosova, T. A. Astakhova, T. Bairova, N. N. Martynovich, Darya M. Barycova, Tatyana Y. Belkova, Y. S. Livadarova, Nanalya I. Sysoeva   +8 more
semanticscholar   +1 more source

LHFPL5 splice site variant in a cat with deafness and vestibular dysfunction

Animal Genetics, Volume 56, Issue 6, December 2025.
Abstract Vestibular disorders associated with hearing loss are indicative of inner ear dysfunction. We investigated a young cat presenting with deafness and vestibular signs. Magnetic resonance imaging of the brain revealed no abnormalities. No obvious visual impairment was reported on ophthalmological examination.
Assami‐Carina Perret, Julien Guevar, Vidhya Jagannathan, Tosso Leeb   +3 more
wiley   +1 more source

Pupillary pain index correlates with postoperative pain scores in neurosurgical patients [PDF]

, 2017
info:eu-repo/semantics ...
Amorim, Pedro, Correia, Rui P., Leitão, A., Nunes, Catarina S., Rego, J., Soares, Maria, Vide, Sérgio   +6 more
core   +1 more source

The Evolving Trend of Liver Transplantation in Metabolic Diseases: From Origins to Current Perspectives

Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.
ABSTRACT Liver transplantation (LTx) has become, over the years, an increasingly used therapeutic option in patients with inherited metabolic diseases (IMD). Initially performed for Tyrosinemia Type I and ornithine transcarbamylase deficiency, it now accounts as the second indication for pediatric transplants worldwide. The use of LTx has been extended
Andrea Pietrobattista, Diego Martinelli, Marco Spada, Carlo Dionisi‐Vici   +3 more
wiley   +1 more source

A dodecylamine derivative of cyanocobalamin potently inhibits the activities of cobalamin-dependent methylmalonyl-CoA mutase and methionine synthase of Caenorhabditis elegans

FEBS Open Bio, 2014
In this study, we showed that cyanocobalamin dodecylamine, a ribose 5′-carbamate derivative of cyanocobalamin, was absorbed and accumulated to significant levels by Caenorhabditis elegans and was not further metabolized.
Tomohiro Bito, Yukinori Yabuta, Tsuyoshi Ichiyanagi, Tsuyoshi Kawano, Fumio Watanabe   +4 more
doaj   +1 more source

Propionic Acidemia: Gray Matter Disease Meets Subcortical Leukodystrophy

Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.
ABSTRACT Imaging literature on propionic acidemia (PA) is predominantly concerned with deep gray matter changes. In order to investigate the spectrum and patterns of MRI changes, 45 MRI scans of 13 patients (0.31–33.2 years) were systematically analyzed. Deep and cortical gray matter changes were associated with acute metabolic decompensation. Striatum
Hannah Fels‐Palesandro, Friederike Hörster, Dorothea Haas, Florian Gleich, Sven F. Garbade, Stefan Kölker, Inga Harting   +6 more
wiley   +1 more source

Trial Readiness: Understanding the Natural History of Rare Diseases

Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.
ABSTRACT Inherited metabolic diseases (IMD) represent the largest and still growing group of treatable genetic disorders and are increasingly amenable to targeted interventions that achieve varying degrees of prognostic improvement. Innovative therapies are on the horizon and offer promising opportunities for disease‐changing treatment for a variety of
Thomas Opladen, Ulrike Mütze, Florian Gleich, Sven F. Garbade, Oya Kuseyri Hübschmann, Matthias Zielonka, Stefan Kölker   +6 more
wiley   +1 more source

Molecular mechanisms leading to three different phenotypes in the cblD defect of intracellular cobalamin metabolism [PDF]

, 2017
The cblD defect of intracellular vitamin B12 metabolism can lead to isolated methylmalonic aciduria (cblD-MMA) or homocystinuria (cblD-HC), or combined methylmalonic aciduria and homocystinuria (cblD-MMA/HC).
Baumgartner, Matthias R., Burda, Patricie, Coelho, David, Fowler, Brian, Stucki, Martin, Suormala, Terttu   +5 more
core