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 . …
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 …
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 …
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. …
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 …
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…
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 …
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 …
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 …
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 …
are arranged in subsynaptic nanodomains. The synaptic membrane-associated guanylate …