Results 71 to 80 of about 13,373 (259)

A New, Atypical Case of Cobalamin F Disorder Diagnosed by Whole Exome Sequencing [PDF]

, 2015
The Deciphering Developmental Disorders Study presents independent research commissioned by the Health Innovation Challenge Fund (HICF-1009-003), a parallel funding partnership between the Wellcome Trust and the Department of Health, and the Wellcome ...
Constantinou, Panayiotis, D'Allesandro, Mariella, Dean, John, Deciphering Developmental Disorders Study, Hauptfleisch, Catherine, Lochhead, Paul, Samant, Shalaka   +6 more
core   +1 more source

Methylmalonic Acid, a Biochemical Hallmark of Methylmalonic Acidurias but No Inhibitor of Mitochondrial Respiratory Chain [PDF]

Journal of Biological Chemistry, 2003
Methylmalonic acidurias are biochemically characterized by an accumulation of methylmalonic acid and alternative metabolites. An impairment of energy metabolism plays a key role in the pathophysiology of this disease, resulting in neurodegeneration of the basal ganglia and renal failure.
Kolker, S., Schwab, M.A., Horster, F., Sauer, S., Hinz, A., Wolf, N.I., Mayatepek, E., Hoffmann, G.F., Smeitink, J.A.M., Okun, J.G.   +9 more
openaire   +6 more sources

An eye on long‐duration spaceflight: Controversies, countermeasures and challenges

Experimental Physiology, EarlyView.
Abstract Space flight‐associated neuroocular syndrome (SANS) is a consequence of long‐duration space flight and is detected in two‐thirds of astronauts. In‐flight, this can cause a change in the refraction of the eyes, requiring graded hypermetropic ‘superfocus adjustable’ glasses, optic nerve head oedema and choroidal folds.
Vincent Wing Sum Ng, Susan Patricia Mollan   +1 more
wiley   +1 more source

Metabolic phenotype of methylmalonic acidemia in mice and humans: the role of skeletal muscle

BMC Medical Genetics, 2007
Background Mutations in methylmalonyl-CoA mutase cause methylmalonic acidemia, a common organic aciduria. Current treatment regimens rely on dietary management and, in severely affected patients, liver or combined liver-kidney transplantation.
Kaestner Klaus H, Allen Robert, Stabler Sally, Tsai Matthew, Fu Hong, Sloan Jennifer, Chandler Randy J, Kazazian Haig H, Venditti Charles P   +8 more
doaj   +1 more source

Vitamin B12 in Cats: Nutrition, Metabolism, and Disease

Animals, 2023
Cobalamin is a water-soluble molecule that has an important role in cellular metabolism, especially in DNA synthesis, methylation, and mitochondrial metabolism. Cobalamin is bound by intrinsic factor (IF) and absorbed in the ileal tract.
Gerardo Siani, Beatrice Mercaldo, Maria Chiara Alterisio, Antonio Di Loria   +3 more
doaj   +1 more source

Aging‐Derived Alterations in Genomic, Immune, and Metabolic Networks: Implications for Cancer Development and Therapy

MedComm – Oncology, Volume 5, Issue 1, March 2026.
Ageing acts as a double‐edged sword in cancer. In the elderly, open chromatin, immunosenescence, and chronic inflammation drive SASP (IL‐6, MMPs), MDSC accumulation and T‐cell suppression, fostering tumor‐promoting microenvironments and limited therapeutic benefit.
Qi Wang, Xue Sun, Xinhao Han, Xingda Zhang, Wenzheng Wang, Hongbin Wang, He Ren, Lina Gu   +7 more
wiley   +1 more source

Pitfalls in the diagnostic evaluation of subacute combined degeneration [PDF]

, 2015
We report a case of a 43-year-old man presenting with a 2-week history of painless ascending sensory disturbances, suspected to be suffering from acute inflammatory polyneuropathy.
Linnebank, M, Müller, D, Tarnutzer, A A, Ulrich, A   +3 more
core   +1 more source

Digenic Functional B12 and Folate Defect Mimicking Myelodysplasia

Clinical Case Reports, Volume 14, Issue 2, February 2026.
Proposed mechanistic model of mutation‐related outcomes. ABSTRACT A digenic defect involving CUBN and MTHFR produced functional B12/folate deficiency in a patient with pancytopenia and neurological signs, mimicking myelodysplasia. Genetic and metabolic screening revealed elevated methylmalonic acid/homocysteine, with rapid remission post‐parenteral B12.
Thomas Cluzeau, Abderrahim Oussalah, Maël Silva Rodriguez, Mourad Naïmi   +3 more
wiley   +1 more source

Tricarboxylic acid cycle enzyme activities in a mouse model of methylmalonic aciduria [PDF]

, 2019
Methylmalonic acidemia (MMA) is a propionate pathway disorder caused by dysfunction of the mitochondrial enzyme methylmalonyl-CoA mutase (MMUT). MMUT catalyzes the conversion of methylmalonyl-CoA to succinyl-CoA, an anaplerotic reaction which feeds into ...
Baumgartner, Matthias R, Chapman, Kimberly A, Cunningham, Gary, Forny, Patrick, Pumbo, Elena, Summar, Marshall L, Wongkittichote, Parith   +6 more
core   +1 more source

Ammonium accumulation is a primary effect of 2-methylcitrate exposure in an in vitro model for brain damage in methylmalonic aciduria. [PDF]

, 2016
Using 3D organotypic rat brain cell cultures in aggregates we recently identified 2-methylcitrate (2-MCA) as the main toxic metabolite for developing brain cells in methylmalonic aciduria.
Ballhausen, D., Braissant, O., Cudré-Cung, H.P., do Vale-Pereira, S., Henry, H., Ivanisevic, J., Remacle, N., Tavel, D., Zavadakova, P.   +8 more
core   +1 more source