Results 41 to 50 of about 271 (90)

Absent Words, Present Person

Neurology, 2021
Hundreds of distinct epilepsy-causing genes have been identified.1 The vitamin B6-dependent epilepsies are a heterogeneous group of genetic disorders due to incomplete formation, transport, or inactivation of pyridoxal 5′-phosphate (PLP).2 The ALDH7A1 ...
Joan Lee
semanticscholar   +1 more source

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

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

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

Mouse models for inherited monoamine neurotransmitter disorders

Journal of Inherited Metabolic Disease, Volume 47, Issue 3, Page 533-550, May 2024.
Abstract Several mouse models have been developed to study human defects of primary and secondary inherited monoamine neurotransmitter disorders (iMND). As the field continues to expand, current defects in corresponding mouse models include enzymes and a molecular co‐chaperone involved in monoamine synthesis and metabolism (PAH, TH, PITX3, AADC, DBH ...
Beat Thöny, Joanne Ng, Manju A. Kurian, Philippa Mills, Aurora Martinez   +4 more
wiley   +1 more source

Temperature‐smart plants: A new horizon with omics‐driven plant breeding

Physiologia Plantarum, Volume 176, Issue 1, January/February 2024.
Abstract The adverse effects of mounting environmental challenges, including extreme temperatures, threaten the global food supply due to their impact on plant growth and productivity. Temperature extremes disrupt plant genetics, leading to significant growth issues and eventually damaging phenotypes. Plants have developed complex signaling networks to
Ali Raza, Shanza Bashir, Tushar Khare, Benjamin Karikari, Rhys G. R. Copeland, Monica Jamla, Saghir Abbas, Sidra Charagh, Spurthi N. Nayak, Ivica Djalovic, Rosa M. Rivero, Kadambot H. M. Siddique, Rajeev K. Varshney   +12 more
wiley   +1 more source

Conserved Pyridoxal 5'-Phosphate-Binding Protein YggS Impacts Amino Acid Metabolism through Pyridoxine 5'-Phosphate in Escherichia coli

Applied and Environmental Microbiology, 2019
Recent studies showed that deletion or mutation of members of the YggS protein family causes pleiotropic effects in many organisms. Little is known about the causes, mechanisms, and consequences of these diverse phenotypes.
Tomokazu Ito, Kana Yamamoto, Ran Hori, Ayako Yamauchi, D. Downs, H. Hemmi, T. Yoshimura   +6 more
semanticscholar   +1 more source

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

Molecular Microbiology, 2019
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.
Tomokazu Ito, Ran Hori, H. Hemmi, D. Downs, T. Yoshimura   +4 more
semanticscholar   +1 more source