Results 111 to 120 of about 11,574 (255)

Shared dysregulation of complement and phosphorylation pathways in the cerebrospinal fluid of encephalitis, Aicardi–Goutières syndrome, and autism

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To identify shared and disorder‐specific molecular alterations across encephalitis, Aicardi–Goutières syndrome (AGS), and autism spectrum disorder (ASD) using cerebrospinal fluid (CSF) proteomics. Method In this cross‐sectional case–control study, mass‐spectrometry‐based proteomics was performed on archived CSF samples collected between ...
Omar H. Shadid, Peter G. Hains, Velda X. Han, Jingya Yan, Michael Griffiths, Ignatius Pang, Sushil Bandodkar, Phillip J. Robinson, Russell C. Dale   +8 more
wiley   +1 more source

Comparative diagnostic challenges in two horses with skin fragility disorders

Equine Veterinary Education, EarlyView.
Summary Hereditary equine regional dermal asthenia (HERDA) is an autosomal recessive connective tissue disorder of horses caused by a missense mutation (c.115G>A) in the peptidyl‐prolyl cis–trans isomerase B (PPIB) gene, resulting in defective collagen organisation.
M. Biolchi, F. A. Saiki, T. G. Cristo, M. C. Silva, R. J. Souza, A. F. Souza, R. A. Casagrande, J. H. Fonteque, C. I. G. Vogel   +8 more
wiley   +1 more source

ER proteostasis meets mitochondrial function: contact sites as hubs of communication and therapeutic targets

The FEBS Journal, EarlyView.
Proteostasis ensures proper protein folding, modification, and degradation, while its impairment triggers ER stress. Chronic ER stress and maladaptive UPR via the CHOP–ERO1 axis remodel ERMCs, altering calcium signaling and mitochondrial metabolism.
Giorgia Maria Renna, Alessandro Cherubini, Ersilia Varone, Serena Germani, Alice Marrazza, Ester Zito   +5 more
wiley   +1 more source

Oxidized PDI promotes thrombus formation in oxidative stress. [PDF]

Blood
Yang M, Owegie OC, Patel A, Kennedy QP, Flaumenhaft JT, Chinnaraj M, Ponzar N, Fulcidor EM, Rico MC, Bhowmik A, Carroll KS, Handy DE, Loscalzo J, Essex DW, Pozzi N, Flaumenhaft R.   +15 more
europepmc   +1 more source

Functional characterization of 42 CK2α de novo variants associated with Okur‐Chung neurodevelopmental syndrome

The FEBS Journal, EarlyView.
Okur‐Chung neurodevelopmental syndrome (OCNDS) is a neurodevelopmental disorder associated with mutations in the gene coding for Protein kinase CK2α. In this work, 42 variants of CK2α associated with OCNDS were characterized in vitro. This included determination of catalytic activity and CK2α/CK2β‐interaction as well as an assessment of evolutionary ...
Alexander Gast, Christian Werner, Karsten Niefind, Joachim Jose   +3 more
wiley   +1 more source

Biogenesis of TNF‐α‐insights into proteostasis and inflammation

The FEBS Journal, EarlyView.
TNF‐α biogenesis, trafficking, and signalling are tightly and reciprocally coupled to cellular proteostasis systems, including ER chaperones and endoplasmic reticulum‐associated degradation. This bidirectional crosstalk determines whether TNF‐α responses are adaptive or proteotoxic.
Bailasan Haidar, Céline Philippe, Eric Chevet, Jiří Zahradník   +3 more
wiley   +1 more source

Novel chemistry and structural perspectives in vitamin B₁₂-dependent radical SAM enzymes. [PDF]

Chem Sci
Berteau O, Teixeira Nunes M, Taraglio N, Legrand P, Benjdia A.   +4 more
europepmc   +1 more source

Phenotypic characterization of Arabidopsis thaliana mutants that alleviate root growth defects in a vitamin B6 biosynthesis mutant

The FEBS Journal, EarlyView.
Vitamin B6 is a critical molecule for plant metabolism and development. Rsr4‐1, a loss‐of‐function mutant in a vitamin B6 biosynthesis gene, has a distinct short root phenotype. Here we describe five novel suppressor mutants with an rsr4‐1 background that have normalized root growth and distinct phenotypic and molecular characteristics, representing a ...
Marcelina Parra, Paige Henning, Clayton Bailes, Sanja Roje, Hanjo Hellmann   +4 more
wiley   +1 more source

Molecular evolution and diversity of isomerase-reductase clusters involved in the bacterial metabolism of glycosaminoglycans. [PDF]

mSphere
Nishimura Y, Okumura K, Oiki S, Ogura K, Hashimoto W.   +4 more
europepmc   +1 more source

Isomerase [PDF]

, 2020
openaire   +1 more source