Results 11 to 20 of about 95 (54)

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

, 2022
ABSTRACT 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.
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   +2 more sources

WWOX Loss of Function in Neurodevelopmental and Neurodegenerative Disorders. [PDF]

Int J Mol Sci, 2020
The WWOX gene was initially discovered as a putative tumor suppressor. More recently, its association with multiple central nervous system (CNS) pathologies has been recognized.
Aldaz CM, Hussain T.
europepmc   +2 more sources

Wwox deletion leads to reduced GABA-ergic inhibitory interneuron numbers and activation of microglia and astrocytes in mouse hippocampus [PDF]

, 2021
The association of WW domain-containing oxidoreductase WWOX gene loss of function with central nervous system (CNS) related pathologies is well documented.
Kil, Hyunsuk, Hattiangady, Bharathi, Abba, Martín Carlos, Hussain, Tabish, Lee, Jaeho, Shuai, Bing, Takata, Yoko, Shen, Jianjun, Aldaz, C. Marcelo, Kodali, Maheedhar, Attaluri, Sahithi, Shetty, Ashok K.   +11 more
core  

WWOX-associated encephalopathies: identification of the phenotypic spectrum and the resulting genotype-phenotype correlation

, 2018
Epileptic encephalopathies are a group of disorders in which epileptiform abnormalities cause progressive deterioration in cerebral function. Genetic causes have been described in several of the epileptic encephalopathies, and many previously unknown ...
Serin, Hepsen Mine, Isik, Esra, Gokben, Sarenur, Simsek, Erdem   +3 more
core   +1 more source

WWOX and severe autosomal recessive epileptic encephalopathy: first case in the prenatal period

, 2015
International audienceWWOX has been recently implicated in autosomal recessive spinocerebellar ataxia type 12 (SCAR12) and severe early-onset epileptic encephalopathy (EOEE).
Mylène Valduga, Vibert, Mireille, Pinaud, Patrick, Jonveaux, Philippe, Schmitt, Emmanuelle, Laetitia Lambert, Christophe Philippe, Masutti, Jean Pierre, Jean Pierre Masutti, Mireille Vibert, Emmanuelle Schmitt, Bénédicte François, Philippe Jonveaux, Valduga, Mylène, François, Bénédicte, Bach-Segura, Pascale, Patrick Pinaud, Philippe, C, Pascale Bach-Segura, Lambert, Laetitia   +19 more
core   +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

Molecular Biology of the WWOX Gene That Spans Chromosomal Fragile Site FRA16D. [PDF]

Cells, 2021
Lee CS, Choo A, Dayan S, Richards RI, O'Keefe LV.   +4 more
europepmc   +1 more source

MRI CNS Atrophy Pattern and the Etiologies of Progressive Ataxias. [PDF]

Tomography, 2022
Mascalchi M.
europepmc   +1 more source

Zebrafish Models of Autosomal Recessive Ataxias. [PDF]

Cells, 2021
Quelle-Regaldie A, Sobrido-Cameán D, Barreiro-Iglesias A, Sobrido MJ, Sánchez L.   +4 more
europepmc   +1 more source