Results 11 to 20 of about 98 (63)
Autoantigens in the trabecular meshwork and glaucoma-specific alterations in the natural autoantibody repertoire. [PDF]
Clin Transl Immunology, 2020 In this study, we identified 66 potential antigens in the trabecular meshwork (TM) as targets of natural autoimmunity. Of these antigens, 21 can be assigned a connection to primary open‐angle glaucoma (POAG). The platelet‐derived growth factor receptor beta (PDGFRB) pathway involved in TM fibrosis is especially represented by POAG‐related antigens ...
Beutgen VM +3 more
europepmc +2 more sources
On pathways and blind alleys—The importance of biomarkers in vitamin B6‐dependent epilepsies
Journal of Inherited Metabolic Disease, Volume 46, Issue 5, Page 839-847, September 2023., 2023 Abstract Over the past two decades, the field of vitamin B6‐dependent epilepsies has evolved by the recognition of a growing number of gene defects (ALDH7A1, PNPO, ALPL, ALDH4A1, PLPBP as well as defects of the glycosylphosphatidylinositol anchor proteins) that all lead to reduced availability of pyridoxal 5′‐phosphate, an important cofactor in ...
Barbara Plecko
wiley +1 more source
, 2022 PLPHP (pyridoxal-phosphate homeostasis protein) deficiency is caused by biallelic pathogenic variants in PLPBP and is a rare cause of pyridoxine-responsive disorders. We describe three French-Canadian individuals with PLPHP deficiency, including one with
Sarah Alsubhi (13966119) +5 more
core +1 more source
, 2022 PLPHP (pyridoxal-phosphate homeostasis protein) deficiency is caused by biallelic pathogenic variants in PLPBP and is a rare cause of pyridoxine-responsive disorders. We describe three French-Canadian individuals with PLPHP deficiency, including one with
Sarah Alsubhi (13966119) +5 more
core +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
PLPHP: Per-Layer Per-Head Vision Token Pruning for Efficient Large Vision-Language Models
CoRR12 pages, 8 ...
Yu Meng +6 more
openaire +2 more sources
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 +4 more
wiley +1 more source
, 2020 Early infantile epileptic encephalopathies are a set of diseases characterized by poorly controlled or refractory seizures, contributing to, or in concert with, changes in cerebral function and neurodevelopment.
Johnstone, Devon
core +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
The biochemical investigation of genetic disorders responsive to vitamin B6 supplementation [PDF]
, 2019 The active form of vitamin B6, pyridoxal 5’-phosphate (PLP), is a cofactor required for many essential functions such as the metabolism of amino acids and neurotransmitters, the one-carbon cycle, haem biosynthesis, glycogenolysis, and sphingolipid ...
Wilson, Matthew
core +1 more source