Results 61 to 70 of about 8,758 (210)

Prevalence of Trinucleotide Expansions in SCA17/TBP and JPH3 Genes and Octapeptide Insertion in PRNP Gene in Iranian Patients with Huntington-Disease like Syndrome

open access: yesMedical Laboratory Journal, 2020
Background and objective:  Huntingtonchr('39')s disease (HD) is an autosomal dominant disorder that mainly affects adults. Although mutations in the IT15 gene have been known as the main cause of the disease, patients with HD like (HDL) syndrome have ...
mana zakeri   +4 more
doaj  

Polymorphisms of the prion protein gene (PRNP) in a Korean population [PDF]

open access: yesJournal of Human Genetics, 2004
Human prion protein gene (PRNP) has been considered to be involved in the susceptibility of humans to prion diseases. Polymorphisms of methionine (Met)/valine (Val) at codon 129 and of glutamic acid (Glu)/lysine (Lys) at codon 219 are thought to play an important role in susceptibility to sporadic, iatrogenic and variant Creutzfeldt-Jakob disease (CJD).
Byung-Hoon, Jeong   +10 more
openaire   +2 more sources

PRNP haplotype associated with classical BSE incidence in European Holstein cattle.

open access: yesPLoS ONE, 2010
Classical bovine spongiform encephalopathy (BSE) is an acquired prion disease of cattle. The bovine prion gene (PRNP) contains regions of both high and low linkage disequilibrium (LD) that appear to be conserved across Bos taurus populations.
Brenda M Murdoch   +9 more
doaj   +1 more source

Investigating CRISPR/Cas9 gene drive for production of disease-preventing prion gene alleles

open access: yesPLoS ONE, 2022
Prion diseases are a group of fatal neurodegenerative disorders that includes chronic wasting disease, which affects cervids and is highly transmissible.
Andrew R. Castle   +3 more
doaj   +2 more sources

Aptamer‐Targeted PrPC Drives Colorectal Cancer Metastasis via a LYN‐STAT3 Complex and Enables Liquid Biopsy Detection

open access: yesAdvanced Science, EarlyView.
The aptamer WHY‐3E identifies PrPC as a CRC driver. Stabilized by USP18, endocytosed PrPC forms a LYN/STAT3 complex, upregulating MSN transcription to promote metastasis. Crucially, WHY‐3E sensitively detects PrPC‐positive circulating exosomes, establishing a robust theoretical foundation for non‐invasive clinical diagnostics.
Chunlin Wang   +23 more
wiley   +1 more source

A Phase‐Resolved Geometric Deep Learning Framework Maps Structural Determinants of Disease‐Associated Protein Aggregation and Guides Suppressor Design

open access: yesAdvanced Science, EarlyView.
SKALE 2.0 maps disease‐associated protein aggregation as a phase‐resolved structural process, linking mutation‐induced geometric perturbations to nucleation, elongation, and suppressor design. Across neurodegenerative proteins, the framework reveals cryptic aggregation vulnerabilities, separates phase‐concordant and phase‐switching mutations, and ...
Jia Shen Sio   +6 more
wiley   +1 more source

TDP‐43 Aggregation: The Healthy‐Toxic Balance of the Prion‐Like Domain

open access: yesAdvanced Science, EarlyView.
TDP‐43 function relies on a delicate balance between reversible phase‐separated states and irreversible aggregation. Under physiological conditions, TDP‐43 forms dynamic droplets and oligomers that support normal cellular functions. In pathological contexts, this balance shifts toward aberrant aggregation, leading to toxic species.
Luca Zangrando   +2 more
wiley   +1 more source

Entropy‐Driven Innovations: Entropy Stabilized Oxides for High‐Performance Next‐Generation Lithium–Sulfur Batteries

open access: yesENERGY &ENVIRONMENTAL MATERIALS, EarlyView.
This article explores high‐entropy‐stabilized oxides (HEOs) as novel functional materials for addressing critical issues in lithium–sulfur (Li–S) batteries, including lithium polysulfide (LPS) shuttling, inadequate conductivity, and slow redox kinetics.
Hassan Raza   +10 more
wiley   +1 more source

PRNP promoter polymorphisms are associated with BSE susceptibility in Swiss and German cattle [PDF]

open access: yes, 2007
Background Non-synonymous polymorphisms within the prion protein gene (PRNP) influence the susceptibility and incubation time for transmissible spongiform encephalopathies (TSE) in some species such as sheep and humans.
Dolf, G.   +31 more
core   +1 more source

Associations between PRNP expression and immune inhibitors, immunomodulators, chemokines, and receptors from the TISIDB database.

open access: yes, 2023
(A) The top four immune inhibitors linked with PRNP expression. PVRL2 was negatively correlated with PRNP levels, while those of PDCD1LG2, IL10RB, and IDO1 were positively correlated.
Changwei Lin (630203)   +3 more
core   +1 more source

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