Results 41 to 50 of about 281 (94)

Inhibition of glycine cleavage system by pyridoxine 5'-phosphate causes synthetic lethality in glyA yggS and serA yggS in Escherichia coli [PDF]

, 2020
The YggS/Ybl036c/PLPBP family includes conserved pyridoxal 5′‐phosphate (PLP)‐binding proteins that play a critical role in the homeostasis of vitamin B6 and amino acids.
Ito, Tomokazu, Tohru Yoshimura, Diana M. Downs, Ran Hori, Hemmi, Hisashi, Yoshimura, Tohru, Tomokazu Ito, Hori, Ran, Hisashi Hemmi, Downs, Diana M., 96824, 96825, 96826, 96827, 96828   +14 more
core   +1 more source

B Vitamins: Small molecules, big effects [PDF]

, 2019
In this themed issue of the Journal of Inherited Metabolic Disease, we review the roles of six of the B vitamins in human disease, focussing on treatable inborn errors of metabolism. The special issue starts with a review of thiamine metabolism.
Rahman, S, Baumgartner, M
core   +2 more sources

Vitamin‐Responsive Disorders: From Molecular Basis to Clinical Presentation and Therapy

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Vitamin‐dependent cofactors are essential for numerous metabolic reactions, and defects affecting their uptake, conversion, utilisation, or regeneration constitute a heterogeneous group of inherited metabolic disorders (IMDs). Although dietary vitamin intake is sufficient to sustain coenzyme synthesis in healthy individuals, it is insufficient
Cécile Acquaviva, Yann Nadjar, Manuel Schiff, Christine Vianey‐Saban, Alain Fouilhoux, Jean‐François Benoist   +5 more
wiley   +1 more source

Maintenance of cellular vitamin B 6 levels and mitochondrial oxidative function depend on pyridoxal 5′-phosphate homeostasis protein [PDF]

, 2023
Recently, biallelic variants in PLPBP coding for pyridoxal 5'-phosphate homeostasis protein (PLPHP) were identified as a novel cause of early-onset vitamin B 6-dependent epilepsy. The molecular function and precise role of PLPHP in vitamin B 6 metabolism
Houten, Sander M, Zwartkruis, Fried J T, van Roermund, Carlo W T, Waterham, Hans R, Gerrits, Johan, Bosma, Marjolein, van Karnebeek, Clara D M, Wanders, Ronald J A, Ciapaite, Jolita, Jans, Judith J, Verhoeven-Duif, Nanda M, IJlst, Lodewijk, Brain, Genetica, Genetica Sectie Metabole Diagnostiek, Child Health, Cancer   +16 more
core  

Plasma Proteome Profiling of Centenarian Across Switzerland Reveals Key Youth‐Associated Proteins

Aging Cell, Volume 25, Issue 2, February 2026.
We characterized the plasma proteomic profiles of centenarians from the SWISS100 cohort, identifying 583 differentially expressed proteins compared to younger and geriatric groups. Cross‐validation with the independent datasets NECS and the TAME consortium confirmed a robust aging signature, while fractional polynomial regressions revealed a specific ...
Flavien Delhaes, Justine Falciola, Adar Hoffman, Stéphanie Carnesecchi, Stefano Cavalli, Armin von Gunten, Daniela S. Jopp, François R. Herrmann, Karl‐Heinz Krause   +8 more
wiley   +1 more source

Aetiopathogenesis of infantile epileptic spasms syndrome and mechanisms of action of adrenocorticotrophin hormone/corticosteroids in children: A scoping review

Developmental Medicine &Child Neurology, Volume 67, Issue 8, Page 1004-1025, August 2025.
Why does infantile epileptic spasms syndrome (IESS) occur with a variety of underlying conditions and why does it respond to adrenocorticotrophin hormone (ACTH)/corticosteroids? Our scoping review summarizes five hypotheses from the literature: gene/epigenetic regulation, stress/HPA axis activation, neuroinflammation/immune function, altered neuronal ...
Emily A. Innes, Velda X. Han, Shrujna Patel, Michelle A. Farrar, Deepak Gill, Shekeeb S. Mohammad, Russell C. Dale   +6 more
wiley   +1 more source

Identification of genetic markers associated with hyperketonemia patterns in early lactation Holstein cows

Journal of Animal Breeding and Genetics, Volume 141, Issue 6, Page 702-721, November 2024.
Abstract Ketosis, evidenced by hyperketonemia with elevated blood β‐hydroxybutyrate (BHB) levels, is a significant metabolic disorder of dairy cattle, typically diagnosed within the first 6 weeks post‐calving when high energy levels are essential to milk production.
Maria Malane M. Muniz, Rita Couto Serrenho, Todd Duffield, Gerson A. de Oliveira Junior, Jessica A. A. McArt, Christine F. Baes, Flavio Schramm Schenkel, E. James Squires   +7 more
wiley   +1 more source

Investigating vitamin B6-dependent epileptic encephalopathies in human patients and a mouse model

, 2020
PLPHP deficiency is a recently discovered form of vitamin B6-dependent epilepsies (B6Es) that is caused by recessive mutations in PLPBP. PLPHP is involved in pyridoxal 5’-phosphate (PLP) homeostatic regulation.
Al Shekaili, Hilal Hamed
core   +1 more source

Comparative analysis of gene and disease selection in genomic newborn screening studies

Journal of Inherited Metabolic Disease, Volume 47, Issue 5, Page 945-970, September 2024.
Abstract Genomic newborn screening (gNBS) is on the horizon given the decreasing costs of sequencing and the advanced understanding of the impact of genetic variants on health and diseases. Key to ongoing gNBS pilot studies is the selection of target diseases and associated genes to be included.
Isabel R. Betzler, Maja Hempel, Ulrike Mütze, Stefan Kölker, Eva Winkler, Nicola Dikow, Sven F. Garbade, Christian P. Schaaf, Heiko Brennenstuhl   +8 more
wiley   +1 more source

Bases estructurales de la señalización y regulación por nitrógeno y procesos asociados [PDF]

, 2020
Tesis doctoral, 218págs, 25 figuras.[EN] In the context of research of our laboratory on nitrogen signaling mainly in the cyanobacterium Synechococcus elongatus PCC7942, with efforts focused on the PII and PipX proteins and their signaling network, this ...
Tremiño Agulló, Lorena
core   +1 more source