Results 211 to 220 of about 33,090 (271)

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

British 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, Sophia Delicou, Aikaterini Ntzoura‐Kani, Nikolaos Simantiris, Marianna Politou, Veroniki Komninaka, Martina Samiotaki, Jerome Zoidakis, Marianna H. Antonelou   +8 more
wiley   +1 more source

Genome-wide association study of behavioural and psychiatric features in human prion disease.

, 2015
Prion diseases are rare neurodegenerative conditions causing highly variable clinical syndromes, which often include prominent neuropsychiatric symptoms.
Carswell, C, MacKay, A, Thompson, AG, Porter, MC, Rudge, P, Collinge, J, Lowe, J, Mead, S, Uphill, J, Lukic, A   +9 more
core  

Variation in the prion protein gene (PRNP) open reading frame sequence in French cervids. [PDF]

Vet Res
Laubier J, Van De Wiele A, Barboiron A, Laloë D, Saint-Andrieux C, Castille J, Meloni E, Ernst S, Pellerin M, Floriot S, Daniel-Carlier N, Passet B, Merlet J, Verheyden H, Béringue V, Andréoletti O, Houston F, Vilotte JL, Bourret V, Moazami-Goudarzi K.   +19 more
europepmc   +1 more source

Genetic characterization of the prion protein gene in camels (Camelus) with comments on the evolutionary history of prion disease in Cetartiodactyla. [PDF]

PeerJ
Wright EA, Reddock MB, Roberts EK, Legesse YW, Perry G, Bradley RD.   +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

European 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, Noa Bregman, Aya Bar David, Talya Nathan, Orly Goldstein, Tanya Gurevich, Avner Thaler, Anat Mirelman, Tamara Shiner, Mali Gana Weisz, Shiri Shkedi‐Rafid, Gael Ganz, Hagit Shani, Elon Pras, Odelia Chorin, Gia Sorkin, Keren Markus‐Bustani, Shlomzion Kahana Merhavi, Mor Shechory‐Stahl, Miri Yanoov Sharav, Michal Dicastro, Dorin Trigubov, Dalit Barel, Esther Kahana, Avi Fellner, Amos Korczyn, Hagit Baris Feldman, Lior Greenbaum, Nurit Omer   +28 more
wiley   +1 more source

The first meta-analysis of the G96S single nucleotide polymorphism (SNP) of the prion protein gene (PRNP) with chronic wasting disease in white-tailed deer. [PDF]

Front Vet Sci
Won SY, Kim YC.
europepmc   +1 more source

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

The 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, Martina Sollazzo, Elisa Monaca, Raffaele Sabbatella, Maria Agnese Morando, Oleg Chertkov, Laura Puglisi, Martina Mascellino, Anna Fricano, Sandra Macedo‐Ribeiro, Caterina Alfano   +10 more
wiley   +1 more source

Variably protease-sensitive prionopathy with methionine homozygosity at codon 129 in the prion protein gene. [PDF]

BMJ Case Rep
Clemmensen FK, Areskeviciute A, Lund EL, Roos P.   +3 more
europepmc   +1 more source

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

Journal 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, Stefano Fabrizio Columbro, Monica Favagrossa, Massimo Tortarolo, Alfredo Cagnotto, Mario Salmona, Giovanni De Marco, Caterina Bendotti, Andrea Calvo, Laura Pasetto, Valentina Bonetto   +10 more
wiley   +1 more source

Understanding the Phenotypic Heterogeneity Within the Sporadic Creutzfeldt–Jakob Disease MV1 Subtype

Neuropathology and Applied Neurobiology, Volume 52, Issue 3, June 2026.
We present the clinical, pathological and prion biophysical features of three atypical cases of the MV1 subtype of sporadic Creutzfeldt–Jakob disease (sCJD). We propose that these heterozygous cases exist on a spectrum ranging from MM1‐like to VV1‐like phenotypes and recommend that subtyping be performed at pH 6.9 to avoid missing atypical or mixed ...
Satish K. Nemani, Leonardo M. Cortez, Jennifer Myskiw, Ignazio Cali, Stephanie A. Booth, Gerard H. Jansen, Valerie L. Sim   +6 more
wiley   +1 more source