LAUSR

About LAUSR
Donate
Contact Us

Follow us:

You are not signed in:

Sign Up!


   Articles with "sorl1" as a keyword



Sex‐specific characterization and evaluation of the Alzheimer's disease genetic risk factor sorl1 in zebrafish during aging and in the adult brain following a 100 ppb embryonic lead exposure

Sign Up to like & get
recommendations! Published in 2017 at "Journal of Applied Toxicology"

DOI: 10.1002/jat.3372

Abstract: Developmental lead (Pb) exposure is suggested in laboratory studies to be a trigger for neurodegenerative diseases such as Alzheimer's disease (AD). Sortilin‐related receptor, L (DLR class) A repeats‐containing (SORL1) is a recently identified AD genetic… read more here.

Keywords: risk; exposure; sorl1; expression ... See more keywords

FOXP1 is a Transcription Factor for the Alzheimer's Disease Risk Gene SORL1

Sign Up to like & get
recommendations! Published in 2025 at "Journal of Neurochemistry"

DOI: 10.1111/jnc.70011

Abstract: Sortilin‐related receptor 1 (SORL1) is a risk gene of Alzheimer's disease (AD), and some protein‐truncating (PTV) and rare missense variants causing the loss of function of SORL1 contribute to AD pathogenesis. SORL1 is an endosomal… read more here.

Keywords: alzheimer disease; sorl1 expression; sorl1; risk gene ... See more keywords

Cerebral amyloid angiopathy-related inflammation: a case report presenting with a rare variant in SORL1 gene

Sign Up to like & get
recommendations! Published in 2019 at "BMC Neurology"

DOI: 10.1186/s12883-019-1326-2

Abstract: BackgroundCerebral amyloid angiopathy-related inflammation (CAA-ri) is a rare clinical entity, characterized by headaches, seizures, rapidly progressive cognitive decline, behavioral changes and magnetic resonance imaging (MRI) findings underlying the autoimmune and inflammatory reaction at the level… read more here.

Keywords: amyloid angiopathy; variant sorl1; case; angiopathy related ... See more keywords

Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer’s disease

Sign Up to like & get
recommendations! Published in 2025 at "Molecular Neurodegeneration"

DOI: 10.1186/s13024-025-00907-z

Abstract: Protein truncating variants (PTVs) in SORL1 are observed almost exclusively in Alzheimer’s Disease (AD) cases, but the effect of rare SORL1 missense variants is unclear. To identify high-priority missense variants (HPVs), we applied ‘domain mapping… read more here.

Keywords: alzheimer disease; disease; disease mutations; sorl1 ... See more keywords