WWOX and its binding proteins in neurodegeneration

CY Hsu, KT Lee, TY Sun, CI Sze, SS Huang, LJ Hsu… - Cells, 2021 - mdpi.com
WW domain-containing oxidoreductase (WWOX) is known as one of the risk factors for
Alzheimer's disease (AD), a neurodegenerative disease. WWOX binds Tau via its C-terminal …

Rodent models of audiogenic epilepsy: genetic aspects, advantages, current problems and perspectives

DG Garbuz, AA Davletshin, SA Litvinova, IB Fedotova… - Biomedicines, 2022 - mdpi.com
Animal models of epilepsy are of great importance in epileptology. They are used to study
the mechanisms of epileptogenesis, and search for new genes and regulatory pathways …

Modeling genetic epileptic encephalopathies using brain organoids

DJ Steinberg, S Repudi, A Saleem… - EMBO Molecular …, 2021 - embopress.org
Developmental and epileptic encephalopathies (DEE) are a group of disorders associated
with intractable seizures, brain development, and functional abnormalities, and in some …

[HTML][HTML] Population genetics of marmosets in Asian primate research centers and loci associated with epileptic risk revealed by whole-genome sequencing

X Yang, Y Mao, XK Wang, DN Ma, Z Xu… - Zoological …, 2023 - ncbi.nlm.nih.gov
The common marmoset (Callithrix jacchus) has emerged as a valuable nonhuman primate
model in biomedical research with the recent release of high-quality reference genome …

WWOX developmental and epileptic encephalopathy: Understanding the epileptology and the mortality risk

KL Oliver, M Trivisano, SA Mandelstam… - …, 2023 - Wiley Online Library
Objective WWOX is an autosomal recessive cause of early infantile developmental and
epileptic encephalopathy (WWOX‐DEE), also known as WOREE (WWOX‐related epileptic …

[HTML][HTML] WWOX P47T partial loss-of-function mutation induces epilepsy, progressive neuroinflammation, and cerebellar degeneration in mice phenocopying human …

T Hussain, K Sanchez, J Crayton, D Saha, C Jeter… - Progress in …, 2023 - Elsevier
WWOX gene loss-of-function (LoF) has been associated with neuropathologies resulting in
developmental, epileptic, and ataxic phenotypes of varying severity based on the level of …

Zfra inhibits the TRAPPC6AΔ-initiated pathway of neurodegeneration

YH Lin, YH Shih, YV Yap, YW Chen, HL Kuo… - International journal of …, 2022 - mdpi.com
When WWOX is downregulated in middle age, aggregation of a protein cascade, including
TRAPPC6AΔ (TPC6AΔ), TIAF1, and SH3GLB2, may start to occur, and the event lasts more …

Modelling hyperexcitability in human cerebral cortical organoids: Oxygen/glucose deprivation most effective stimulant

A Saleem, AC Santos, MS Aquilino, AA Sivitilli… - Heliyon, 2023 - cell.com
Epilepsy is a common neurological disorder that affects 1% of the global population. The
neonatal period constitutes the highest incidence of seizures. Despite the continual …

Neonatal neuronal WWOX gene therapy rescues Wwox null phenotypes

S Repudi, I Kustanovich, S Abu‐Swai… - EMBO molecular …, 2021 - embopress.org
WW domain‐containing oxidoreductase (WWOX) is an emerging neural gene‐regulating
homeostasis of the central nervous system. Germline biallelic mutations in WWOX cause …

WWOX-related neurodevelopmental disorders: models and future perspectives

DJ Steinberg, RI Aqeilan - Cells, 2021 - mdpi.com
The WW domain-containing oxidoreductase (WWOX) gene was originally discovered as a
putative tumor suppressor spanning the common fragile site FRA16D, but as time has …