Autistic-like behaviours and hyperactivity in mice lacking ProSAP1/Shank2

…, AM Le Sourd, R Toro, AM Grabrucker, SA Shoichet… - Nature, 2012 - nature.com
Autism spectrum disorders comprise a range of neurodevelopmental disorders characterized
by deficits in social interaction and communication, and by repetitive behaviour 1 . …

A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral–facial–digital type I syndrome

…, M Wisniewska, LR Jensen, M Raynaud, SA Shoichet… - Human genetics, 2006 - Springer
We report on a large family in which a novel X-linked recessive mental retardation (XLMR)
syndrome comprising macrocephaly and ciliary dysfunction co-segregates with a frameshift …

[HTML][HTML] Transcriptional repression and developmental functions of the atypical vertebrate GATA protein TRPS1

TH Malik, SA Shoichet, P Latham, TG Kroll… - The EMBO …, 2001 - embopress.org
Known vertebrate GATA proteins contain two zinc fingers and are required in development,
whereas invertebrates express a class of essential proteins containing one GATA‐type zinc …

Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation

…, E Niebuhr, LM Neumann, A Tzschach, SA Shoichet… - Human genetics, 2007 - Springer
We report on three unrelated mentally disabled patients, each carrying a de novo balanced
translocation that truncates the autism susceptibility candidate 2 (AUTS2) gene at 7q11.2. …

Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly

SA Shoichet, SA Kunde, P Viertel, C Schell-Apacik… - Human genetics, 2005 - Springer
We have investigated the chromosome abnormalities in a female patient exhibiting a severe
cognitive disability associated with complete agenesis of the corpus callosum and …

Frataxin promotes antioxidant defense in a thiol-dependent manner resulting in diminished malignant transformation in vitro

SA Shoichet, AT Bäumer, D Stamenkovic… - Human molecular …, 2002 - academic.oup.com
Friedreich ataxia is an inherited disorder caused by decreased expression of frataxin protein.
Increasing evidence suggests that this protein might detoxify reactive oxygen species (ROS…

[PDF][PDF] Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation

SA Shoichet, K Hoffmann, C Menzel… - The American Journal of …, 2003 - cell.com
Nonsyndromic X-linked mental retardation (MRX) is defined by an X-linked inheritance pattern
of low IQ, problems with adaptive behavior, and the absence of additional specific clinical …

Characterisation of de novo MAPK10/JNK3 truncation mutations associated with cognitive disorders in two unrelated patients

…, R Ullmann, VM Kalscheuer, SA Shoichet - Human genetics, 2013 - Springer
The c-Jun N-terminal kinases (JNKs) are stress-activated serine-threonine kinases that have
recently been linked to various neurological disorders. We previously described a patient …

Intramolecular domain dynamics regulate synaptic MAGUK protein interactions

…, SA Kunde, MC Wahl, C Freund, SA Shoichet - Elife, 2019 - elifesciences.org
10.7554/eLife.41299.001 PSD-95 MAGUK family scaffold proteins are multi-domain organisers
of synaptic transmission that contain three PDZ domains followed by an SH3-GK domain …

[HTML][HTML] The synaptic scaffold protein MPP2 interacts with GABAA receptors at the periphery of the postsynaptic density of glutamatergic synapses

…, J Schmoranzer, N Rademacher, SA Shoichet - PLoS …, 2022 - journals.plos.org
Recent advances in imaging technology have highlighted that scaffold proteins and receptors
are arranged in subsynaptic nanodomains. The synaptic membrane-associated guanylate …