Two Rare Variants in <i>PLAU</i> and <i>BACE1</i> Genes—Do They Contribute to Semantic Dementia Clinical Phenotype?
We have performed whole-genome sequencing to identify the genetic variants potentially contributing to the early-onset semantic dementia phenotype in a patient with family history of dementia and episodic memory deficit accompanied with profound semantic loss. Only very rare variants of unknown sign...
Main Authors: | Katarzyna Gaweda-Walerych, Emilia J. Sitek, Małgorzata Borczyk, Mariusz Berdyński, Ewa Narożańska, Bogna Brockhuis, Michał Korostyński, Jarosław Sławek, Cezary Zekanowski |
---|---|
Format: | Article |
Language: | English |
Published: |
MDPI AG
2021-11-01
|
Series: | Genes |
Subjects: | |
Online Access: | https://www.mdpi.com/2073-4425/12/11/1806 |
Similar Items
-
A Patient with Corticobasal Syndrome and Progressive Non-Fluent Aphasia (CBS-PNFA), with Variants in <i>ATP7B</i>, <i>SETX</i>, <i>SORL1</i>, and <i>FOXP1</i> Genes
by: Katarzyna Gaweda-Walerych, et al.
Published: (2022-12-01) -
Functional Validation of the Putative Oncogenic Activity of <i>PLAU</i>
by: Federica Sarno, et al.
Published: (2022-12-01) -
Hyperglycemia Promotes Endothelial Cell Senescence through AQR/PLAU Signaling Axis
by: Yiqi Wan, et al.
Published: (2022-03-01) -
The urokinase-type plasminogen activator polymorphism PLAU_1 is a risk factor for APOE-ε4 non-carriers in the Italian Alzheimer’s disease population and does not affect the plasma Aβ(1–42) level
by: Marzia Pesaresi, et al.
Published: (2007-03-01) -
Presenilin-1 interacts directly with the β-site amyloid protein precursor cleaving enzyme (BACE1)
by: Sébastien S Hébert, et al.
Published: (2003-08-01)