Towards Reversing Cognitive Dysfunction in Intellectual Disability and Comorbid Autism Spectrum Disorders

Titel: Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome
Auteur: Sarah E M Stephenson 1, Gregory Costain 2, Laura E R Blok 3, Michael A Silk 4, Thanh Binh Nguyen 4, Xiaomin Dong 5, Dana E Alhuzaimi 5, James J Dowling 6, Susan Walker 7, …(other authors)... Hugoline de Haan 68, Simon Sadedin 69; Broad Center for Mendelian Genomics; Sze Chern Lim 69, Susan M White 55, David B Ascher 70, Annette Schenck 3, Paul J Lockhart 1, John Christodoulou 55, Tiong Yang Tan 71
Magazine: Am J Hum Genet
Begin- en eindpagina: 601-617
Link: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9069070/

Titel: Genetics, molecular control and clinical relevance of habituation learning
Auteur: Laura Elisabeth Rosalie Blok 1, Marina Boon 1, Boyd van Reijmersdal 1, Kira Daniela Höffler 1, Michaela Fenckova 2, Annette Schenck 3
Magazine: Neurosci Biobehav Rev .
Begin- en eindpagina: 104883-104883
Link: https://www.sciencedirect.com/science/article/pii/S0149763422003724?via%3Dihub

Titel: The translational genetics of ADHD and related phenotypes in model organisms
Auteur: Judit Cabana-Domínguez 1, Ester Antón-Galindo 2, Noèlia Fernàndez-Castillo 2, Euginia L Singgih 3, Aet O'Leary 4, William Hg Norton 5, Tatyana Strekalova 6, Annette Schenck 3, Andreas Reif 7, Klaus-Peter Lesch 6, David Slattery 7, Bru Cormand 8
Magazine: Neurosci Biobehav Rev.
Begin- en eindpagina: 104949-104949
Link: https://www.sciencedirect.com/science/article/pii/S0149763422004389?via%3Dihub

Titel: The CHD8/CHD7/Kismet family links blood-brain barrier glia and serotonin to ASD-associated sleep defects
Auteur: Mireia Coll-Tané 1, Naihua N Gong 2, Samuel J Belfer 2, Lara V van Renssen 3, Evangeline C Kurtz-Nelson 4, Milan Szuperak 2, Ilse Eidhof 3, Boyd van Reijmersdal 3, Isabel Terwindt 3, Jaclyn Durkin 2, Michel M M Verheij 5, Chang N Kim 6, Caitlin M Hudac 7, Tomasz J Nowakowski 6, Raphael A Bernier 4, Sigrid Pillen 8, Rachel K Earl 4, Evan E Eichler 9 10, Tjitske Kleefstra 3, Matthew S Kayser 2, Annette Schenck 1
Magazine: Sci Adv
Begin- en eindpagina: 2626-2626
Link: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8177706/

Titel: The epigenetic regulator G9a attenuates stress-induced defense and metabolic transcriptional programs across different stressors and species: a universal mechanism of stress tolerance?
Auteur: Human Riahi 1, Michaela Fenckova 1, Kayla J Goruk 2, Annette Schenck # 3, Jamie M Kramer # 4
Magazine: BMC Biol
Begin- en eindpagina: 112-112
Link: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8142638/

Titel: Intellectual disability-associated disruption of O-GlcNAc cycling impairs habituation learning in Drosophila
Auteur: Michaela Fenckova 1 2, Villo Muha 1, Daniel Mariappa 1, Marica Catinozzi 3, Ignacy Czajewski 1, Laura E R Blok 2, Andrew T Ferenbach 1, Erik Storkebaum 3, Annette Schenck 2, Daan M F van Aalten 1
Magazine: PLoS Genet.
Begin- en eindpagina: 1010159-1010159
Link: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9140282/

Titel: De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations
Auteur: Kerith-Rae Dias 1, Colleen M Carlston 2, Laura E R Blok 3, Lachlan De Hayr 4, Urwah Nawaz 5, Carey-Anne Evans 6, Pinar Bayrak-Toydemir 7, Stephanie Htun 8, Ying Zhu 9, Alan Ma 10, …(other autohors)…., Kazuhiro Yamakawa 26, Haley Streff 27, Christian P Schaaf 28, Anne M Slavotinek 8, Irina Voineagu 29, John C Carey 30, Michael F Buckley 9, Annette Schenck 3, Robert J Harvey 4, Tony Roscioli 31
Magazine: Genet Med.
Begin- en eindpagina: 1952-1966
Link: https://www.sciencedirect.com/science/article/pii/S1098360022008036?via%3Dihub

Titel: Kleefstra syndrome – a hidden metabolic disorder?

Titel: Habituation learning deficits in Drosophila models of intellectual disability and autism spectrum disorders – from molecular mechanisms to clinical applications.
Auteur: Annette Schenck