Results 11 to 20 of about 73 (50)

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, Schmelter C, Pfeiffer N, Grus FH.   +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

PLPHP: Per-Layer Per-Head Vision Token Pruning for Efficient Large Vision-Language Models

CoRR
12 pages, 8 ...
Yu Meng, Kaiyuan Li, Chenran Huang, Chen Gao 0001, Xinlei Chen, Yong Li 0008, Xiaoping Zhang 0002   +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, Joanne Ng, Manju A. Kurian, Philippa Mills, Aurora Martinez   +4 more
wiley   +1 more source

Maintenance of cellular vitamin B₆ levels and mitochondrial oxidative function depend on pyridoxal 5'-phosphate homeostasis protein. [PDF]

J Biol Chem, 2023
Ciapaite J, van Roermund CWT, Bosma M, Gerrits J, Houten SM, IJlst L, Waterham HR, van Karnebeek CDM, Wanders RJA, Zwartkruis FJT, Jans JJ, Verhoeven-Duif NM.   +11 more
europepmc   +1 more source

Genetic Research Progress: Heat Tolerance in Rice. [PDF]

Int J Mol Sci, 2023
Liu H, Zeng B, Zhao J, Yan S, Wan J, Cao Z.   +5 more
europepmc   +1 more source

Knowns and Unknowns of Vitamin B₆ Metabolism in Escherichia coli. [PDF]

EcoSal Plus, 2021
Tramonti A, Nardella C, di Salvo ML, Barile A, D'Alessio F, de Crécy-Lagard V, Contestabile R.   +6 more
europepmc   +1 more source

A Review of Targeted Therapies for Monogenic Epilepsy Syndromes. [PDF]

Front Neurol, 2022
Zimmern V, Minassian B, Korff C.
europepmc   +1 more source

4'-Deoxypyridoxine disrupts vitamin B₆ homeostasis in Escherichia coli K12 through combined inhibition of cumulative B₆ uptake and PLP-dependent enzyme activity. [PDF]

Microbiology (Reading), 2023
Babor J, Tramonti A, Nardella C, Deutschbauer A, Contestabile R, de Crécy-Lagard V.   +5 more
europepmc   +1 more source

Pyridoxine Responsive Seizures: Beyond Aldehyde Dehydrogenase 7A1. [PDF]

J Neurosci Rural Pract, 2019
Koul R, Alfutaisi A, Abdelrahim R, Altihilli K.   +3 more
europepmc   +1 more source