Results 1 to 10 of about 76 (51)

WWOX P47T partial loss-of-function mutation induces epilepsy, progressive neuroinflammation, and cerebellar degeneration in mice phenocopying human SCAR12 [PDF]

Progress in Neurobiology, 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
Tabish Hussain, Kevin Sanchez, Jennifer Crayton, Dhurjhoti Saha, Collene Jeter, Yue Lu, Martin Abba, Ryan Seo, Jeffrey L. Noebels, Laura Fonken, C.Marcelo Aldaz   +10 more
openaire   +4 more sources

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, Baraa Abudiab, Sara Abu-Swai, Srinivasa Rao Repudi, Daniel J. Steinberg, Diala Shatleh, Sarah Alshammery, Leszek Lisowski, Wendy Gold, Peter L. Carlen, Rami I. Aqeilan   +10 more
doaj   +2 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, Irina Kustanovich, Sara Abu‐Swai, Shani Stern, Rami I Aqeilan   +4 more
doaj   +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

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, Srinivasarao Repudi, Afifa Saleem, Irina Kustanovich, Sergey Viukov, Baraa Abudiab, Ehud Banne, Muhammad Mahajnah, Jacob H Hanna, Shani Stern, Peter L Carlen, Rami I Aqeilan   +11 more
doaj   +2 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, Hyunsuk Kil, Bharathi Hattiangady, Jaeho Lee, Maheedhar Kodali, Bing Shuai, Sahithi Attaluri, Yoko Takata, Jianjun Shen, Martin C. Abba, Ashok K. Shetty, C. Marcelo Aldaz   +11 more
doaj   +2 more sources

Identification of compound heterozygous deletion of the WWOX gene in WOREE syndrome. [PDF]

BMC Med Genomics, 2023
Dong XS, Wen XJ, Zhang S, Wang DG, Xiong Y, Li ZM.   +5 more
europepmc   +1 more source

WWOX developmental and epileptic encephalopathy: Understanding the epileptology and the mortality risk. [PDF]

Epilepsia, 2023
Oliver KL, Trivisano M, Mandelstam SA, De Dominicis A, Francis DI, Green TE, Muir AM, Chowdhary A, Hertzberg C, Goldhahn K, Metreau J, Prager C, Pinner J, Cardamone M, Myers KA, Leventer RJ, Lesca G, Bahlo M, Hildebrand MS, Mefford HC, Kaindl AM, Specchio N, Scheffer IE.   +22 more
europepmc   +1 more source

Neuroimaging features of WOREE syndrome: a mini-review of the literature. [PDF]

Front Pediatr, 2023
Battaglia L, Scorrano G, Spiaggia R, Basile A, Palmucci S, Foti PV, Spatola C, Iacomino M, Marinangeli F, Francia E, Comisi F, Corsello A, Salpietro V, Vittori A, David E.   +14 more
europepmc   +1 more source

A Phenotypic-Driven Approach for the Diagnosis of WOREE Syndrome. [PDF]

Front Pediatr, 2022
Riva A, Nobile G, Giacomini T, Ognibene M, Scala M, Balagura G, Madia F, Accogli A, Romano F, Tortora D, Severino M, Scudieri P, Baldassari S, Musante I, Uva P, Salpietro V, Torella A, Nigro V, Capra V, Nobili L, Striano P, Mancardi MM, Zara F, Iacomino M.   +23 more
europepmc   +1 more source