Results 11 to 20 of about 271 (90)

Host Plasma Microenvironment in Immunometabolically Impaired HIV Infection Leads to Dysregulated Monocyte Function and Synaptic Transmission Ex Vivo [PDF]

Advanced Science
Risk stratification using multi‐omics data deepens understanding of immunometabolism in successfully treated people with HIV (PWH) is inadequately explained.
Flora Mikaeloff, Marco Gelpi, Alejandra Escós, Tianqi Wang, Soham Gupta, Anna Olofsson, Sara Svensson Akusjärvi, Sabrina Schuster, Prajakta Naval, Vikas Sood, Negin Nikouyan, Andreas D. Knudsen, Beate Vestad, Julie Høgh, Johannes R. Hov, Thomas Benfield, Marius Trøseid, Vinay Pawar, Marijana Rucevic, Rui Benfeitas, Ákos Végvári, Liam O'Mahony, Rajkumar Savai, Niklas K. Björkström, Magda Lourda, João Pedro deMagalhães, Siegfried Weiss, Adil Mardinoglu, Mukesh Kumar Varshney, Annika C. Karlsson, Yasir Ahmed Syed, Susanne D. Nielsen, Ujjwal Neogi   +32 more
doaj   +4 more sources

Mutational analyses reveal PLP-independent functions at PipY, the cyanobacterial paradigm for pyridoxal-phosphate binding proteins [PDF]

Scientific Reports
Pyridoxal-phosphate binding proteins (PLPBP) are involved in the homeostasis of B6 vitamers and amino/keto acids, share a high degree of sequence conservation and are represented in all three domains of life. Despite the obligate presence of the catalyst
Antonio Llop, Lorena Tremiño, Asunción Contreras   +2 more
doaj   +3 more sources

Pleiotropic effects of PipX, PipY, or RelQ overexpression on growth, cell size, photosynthesis, and polyphosphate accumulation in the cyanobacterium Synechococcus elongatus PCC7942 [PDF]

Frontiers in Microbiology, 2023
The cyanobacterial protein PipY belongs to the Pyridoxal-phosphate (PLP)-binding proteins (PLPBP/COG0325) family of pyridoxal-phosphate-binding proteins, which are represented in all three domains of life.
Antonio Llop, Antonio Llop, Jose I. Labella, Marina Borisova, Karl Forchhammer, Khaled A. Selim, Asunción Contreras   +6 more
doaj   +3 more sources

Insight into vitamin B6-dependent epilepsy due toPLPBP(previouslyPROSC) missense mutations [PDF]

Human Mutation, 2018
Vitamin B6‐dependent genetic epilepsy was recently associated to mutations in PLPBP (previously PROSC), the human version of the widespread COG0325 gene that encodes TIM‐barrel‐like pyridoxal phosphate (PLP)‐containing proteins of unclear function.
Vicente Rubio, Lorena Tremiño, Alicia Forcada-Nadal   +2 more
exaly   +5 more sources

PLPBP mutations cause variable phenotypes of developmental and epileptic encephalopathy. [PDF]

Epilepsia Open, 2018
Vitamin B6–dependent epilepsies are treatable disorders caused by variants in several genes, such as ALDH7A1, PNPO, and others. Recently, biallelic variants in PLPBP, formerly known as PROSC, were identified as a novel cause of vitamin B6–dependent ...
Shiraku H, Nakashima M, Takeshita S, Khoo CS, Haniffa M, Ch'ng GS, Takada K, Nakajima K, Ohta M, Okanishi T, Kanai S, Fujimoto A, Saitsu H, Matsumoto N, Kato M.   +14 more
europepmc   +5 more sources

Mechanism of Pyridoxine 5′-Phosphate Accumulation in Pyridoxal 5′-Phosphate-Binding Protein Deficiency [PDF]

Journal of Bacteriology, 2022
A PLP-binding protein (PLPBP) from the conserved COG0325 family has recently been recognized as a key player in vitamin B6 homeostasis in various organisms.
Diana Downs, Tomokazu Itô, Hisashi Hemmi   +2 more
exaly   +3 more sources

Pyridoxine‐dependent epilepsy: Current perspectives and questions for future research [PDF]

Annals of the Child Neurology Society, 2023
Pyridoxine‐dependent epilepsy (PDE) was historically defined by a dramatic clinical response to a trial of pyridoxine and the re‐emergence of seizures after withdrawal of pyridoxine.
Curtis R. Coughlin  II, Sidney M. Gospe  Jr.   +1 more
doaj   +3 more sources

Late-onset Vitamin B6-dependent epilepsy caused by compound heterozygous pathogenic PLPBP variants

European Journal of Medical Genetics
Evidence has shown that pathogenic variants of the PLPBP gene can cause vitamin B6-dependent epilepsy, a condition characterized by neonatal-onset seizures that respond to vitamin B6 supplementation.
Koichi Nakanishi, Naomichi Matsumoto, Yasutsugu Chinen   +2 more
exaly   +4 more sources

Distinctive Features of PipX, a Unique Signaling Protein of Cyanobacteria [PDF]

Life, 2020
PipX is a unique cyanobacterial protein identified by its ability to bind to PII and NtcA, two key regulators involved in the integration of signals of the nitrogen/carbon and energy status, with a tremendous impact on nitrogen assimilation and gene ...
Jose I. Labella, Raquel Cantos, Paloma Salinas, Javier Espinosa, Asunción Contreras   +4 more
doaj   +3 more sources

Excessive Seizure Clusters in an Otherwise Well-Controlled Epilepsy as a Possible Hallmark of Untreated Vitamin B6-Responsive Epilepsy due to a Homozygous PLPBP Missense Variant. [PDF]

J Pediatr Genet, 2019
Recently, mutations in the PLPBP gene were described as a novel cause for vitamin B6-responsive epilepsy. We report the outcome in case of a male adolescent with a novel homozygous missense variant in PLPBP who was never treated with pyridoxine until the
Johannsen J, Bierhals T, Deindl P, Hecher L, Hermann K, Hempel M, Kloth K, Denecke J.   +7 more
europepmc   +5 more sources