Neurological Disorders Associated with WWOX Germline Mutations—A Comprehensive Overview [PDF]
Cells, 2021 The transcriptional regulator WW domain-containing oxidoreductase (WWOX) is a key player in a number of cellular and biological processes including tumor suppression. Recent evidence has emerged associating WWOX with non-cancer disorders.
Ehud Banne +10 more
doaj +4 more sources
Neonatal neuronal WWOX gene therapy rescues Wwox null phenotypes [PDF]
EMBO Molecular Medicine, 2021 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 epileptic encephalopathy (WOREE) syndrome and spinocerebellar ataxia and ...
Srinivasarao Repudi +4 more
doaj +3 more sources
Modeling genetic epileptic encephalopathies using brain organoids [PDF]
EMBO Molecular Medicine, 2021 Developmental and epileptic encephalopathies (DEE) are a group of disorders associated with intractable seizures, brain development, and functional abnormalities, and in some cases, premature death.
Daniel J Steinberg +11 more
doaj +3 more sources
Wwox deletion leads to reduced GABA-ergic inhibitory interneuron numbers and activation of microglia and astrocytes in mouse hippocampus [PDF]
Neurobiology of Disease, 2019 The association of WW domain-containing oxidoreductase WWOX gene loss of function with central nervous system (CNS) related pathologies is well documented.
Tabish Hussain +11 more
doaj +4 more sources
WWOX P47T partial loss-of-function mutation induces epilepsy, progressive neuroinflammation, and cerebellar degeneration in mice phenocopying human SCAR12. [PDF]
Prog Neurobiol, 2023 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 WWOX dysfunction. WWOX gene biallelic germline variant p.Pro47Thr (P47T) has been causally associated with a new form of autosomal recessive cerebellar ataxia with epilepsy and
Hussain T +10 more
europepmc +6 more sources
WWOX developmental and epileptic encephalopathy: Understanding the epileptology and the mortality risk. [PDF]
Epilepsia, 2023 Abstract Objective WWOX is an autosomal recessive cause of early infantile developmental and epileptic encephalopathy (WWOX‐DEE), also known as WOREE (WWOX‐related epileptic encephalopathy). We analyzed the epileptology and imaging features of WWOX‐DEE, and investigated genotype–phenotype correlations, particularly with regard to survival.
Oliver KL +22 more
europepmc +2 more sources
WWOX-Related Neurodevelopmental Disorders: Models and Future Perspectives [PDF]
Cells, 2021 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 progressed the extent of its pleiotropic function has become apparent.
Daniel J. Steinberg, Rami I. Aqeilan
doaj +2 more sources
WWOX-Related Epileptic Encephalopathy (WOREE Syndrome): Clinical Case Study and Literature Review [PDF]
Current Issues in Molecular BiologyThe WW domain-containing oxidoreductase (WWOX) gene, well-known as a tumor suppressor, also has a crucial role as a transcription factor in the developing brain.
Annamaria Sapuppo +7 more
doaj +2 more sources
WWOX Mutation as a Rare Cause of Neonatal-Infantile Parkinsonism Mimicking a Neurotransmitter Disorder: A Case Report. [PDF]
J Paediatr Child HealthJournal of Paediatrics and Child Health, Volume 62, Issue 7, Page 1273-1277, July 2026.
Serce Pehlevan O +3 more
europepmc +2 more sources
Identification of compound heterozygous deletion of the WWOX gene in WOREE syndrome. [PDF]
BMC Med Genomics, 2023 Dong XS +5 more
europepmc +1 more source