Results 221 to 230 of about 56,657 (298)

Red blood cell membrane proteome as a reporter of disease severity, transfusion impact and genetic background in transfusion‐dependent β‐thalassaemia

open access: yesBritish Journal of Haematology, Volume 208, Issue 6, Page 1980-1992, June 2026.
Summary Omics technologies have transformed research in haemoglobinopathies, yet the proteome of RBCs remains largely unexplored in transfusion‐dependent thalassaemia (TDT). In this proteomic analysis, Red blood cell (RBC) membranes from 48 adults with TDT were compared with healthy controls.
Konstantina Theocharaki   +8 more
wiley   +1 more source

Genetic variability of the prion protein gene (PRNP) in thin-tailed and fat-tailed sheep. [PDF]

open access: yesOpen Vet J
Wicaksono A   +5 more
europepmc   +1 more source

A Practice Framework for Genetic Testing in Asymptomatic Relatives of Patients With Creutzfeldt‐Jakob Disease: Experience and Insights From Israel

open access: yesEuropean Journal of Neurology, Volume 33, Issue 6, June 2026.
Presymptomatic genetic testing for genetic Creutzfeldt‐Jakob disease requires careful balancing of autonomy, psychological preparedness, and potential familial implications. Based on multidisciplinary experience in Israel, we propose a structured framework including pre‐test counseling, psychological appraisal, genetic testing, in‐person results ...
Dror Shir   +28 more
wiley   +1 more source

Variably protease-sensitive prionopathy: mass spectrometry analysis of the pathogenic prion protein provides a new perspective. [PDF]

open access: yesActa Neuropathol Commun
Nemani SK   +9 more
europepmc   +1 more source

Redox environment modulates aggregation of ataxin‐3 in vitro — Implications for drug screening of cysteine‐rich proteins

open access: yesThe FEBS Journal, Volume 293, Issue 11, Page 3376-3398, June 2026.
Redox environment modulates in vitro aggregation of Ataxin‐3, the protein implicated in spinocerebellar ataxia type 3. Reducing conditions stabilize native monomers and prevent aggregation, whereas oxidative conditions promote the formation of non‐native conformers and disulfide‐linked oligomers within the Josephin domain (JD).
Martyna Podlasiak   +10 more
wiley   +1 more source

Effects of Lysine Deacetylation Inhibition Alone or in Combination With Arimoclomol on TDP‐43 Proteinopathy

open access: yesJournal of Neurochemistry, Volume 170, Issue 6, June 2026.
TDP‐43 pathology is a hallmark of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. Peptidyl‐prolyl cis–trans isomerase A (PPIA), a foldase and chaperone protein, modulates TDP‐43 function in an acetylation‐dependent manner. Here, we show that inhibition of lysine deacetylation with vorinostat (SAHA) increases PPIA acetylation and ...
Serena Scozzari   +10 more
wiley   +1 more source

Prion protein promotes copper toxicity in Wilson disease. [PDF]

open access: yesNat Commun
Petruzzelli R   +25 more
europepmc   +1 more source

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