Anna Castells-Nobau
Radboud University Nijmegen
Gene knockdownDrosophila melanogasterGeneticsIntellectual disabilityBiology
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Publications 17
Objective:Attention deficit hyperactivity disorder (ADHD) is a common, highly heritable neuropsychiatric disorder. ADHD often co-occurs with intellectual disability, and shared overlapping genetics...
#1Marieke KleinH-Index: 10
#2Euginia L. SinggihH-Index: 1
Last. Barbara FrankeH-Index: 76
view all 12 authors...
#1Marieke Klein (Radboud University Nijmegen)H-Index: 10
#2Euginia L. Singgih (Radboud University Nijmegen)H-Index: 1
Last. Barbara Franke (Radboud University Nijmegen)H-Index: 76
view all 13 authors...
Objective: Attention-Deficit/Hyperactivity Disorder (ADHD) is a common, highly heritable neuropsychiatric disorder. ADHD often co-occurs with Intellectual Disability (ID), and shared overlapping genetics have been suggested. This study aimed to identify novel ADHD genes by investigating whether genes carrying rare mutations linked to ID contribute to ADHD risk through common genetic variants. Validation and characterization of candidates were performed using Drosophila melanogaster. Method: Comm...
#1Mireia Coll-Tané (Radboud University Nijmegen)H-Index: 1
#2Alina Krebbers (Radboud University Nijmegen)H-Index: 1
Last. Annette Schenck (Radboud University Nijmegen)H-Index: 31
view all 5 authors...
ABSTRACT Intellectual disability (ID) and autism spectrum disorders (ASD) are frequently co-occurring neurodevelopmental disorders and affect 2-3% of the population. Rapid advances in exome and genome sequencing have increased the number of known implicated genes by threefold, to more than a thousand. The main challenges in the field are now to understand the various pathomechanisms associated with this bewildering number of genetic disorders, to identify new genes and to establish causality of ...
1 CitationsSource
#1Anna Castells-Nobau (Radboud University Nijmegen)H-Index: 8
#2Ilse Eidhof (Radboud University Nijmegen)H-Index: 3
Last. Annette Schenck (Radboud University Nijmegen)H-Index: 31
view all 17 authors...
FOXP proteins form a subfamily of evolutionarily conserved transcription factors involved in the development and functioning of several tissues, including the central nervous system. In humans, mutations in FOXP1 and FOXP2 have been implicated in cognitive deficits including intellectual disability and speech disorders. Drosophila exhibits a single ortholog, called FoxP, but due to a lack of characterized mutants, our understanding of the gene remains poor. Here we show that the dimerization pro...
2 CitationsSource
#1Anna Castells-Nobau (Radboud University Nijmegen)H-Index: 8
#2Bonnie Nijhof (Radboud University Nijmegen)H-Index: 11
Last. Annette Schenck (Radboud University Nijmegen)H-Index: 31
view all 9 authors...
Synaptic morphology is tightly related to synaptic efficacy, and in many cases morphological synapse defects ultimately lead to synaptic malfunction. The Drosophila larval neuromuscular junction (N ...
3 CitationsSource
#1Holly A. F. Stessman (Creighton University)H-Index: 19
#2Bo Xiong (Creighton University)H-Index: 17
Last. Evan E. Eichler (UW: University of Washington)H-Index: 141
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Evan Eichler and colleagues use single-molecule molecular-inversion probes to sequence the coding and splicing regions of 208 candidate genes in more than 11,730 individuals with neurodevelopmental disorders. They report 91 genes with an excess of de novo or private disruptive mutations, identify 25 genes showing a bias for autism versus intellectual disability, and highlight a network associated with high-functioning autism.
135 CitationsSource
#1Celia Zazo Seco (Radboud University Nijmegen)H-Index: 7
#2Anna Castells-Nobau (Radboud University Nijmegen)H-Index: 8
Last. Saima Siddiqi (Brazilian Institute of Geography and Statistics)H-Index: 8
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A consanguineous family from Pakistan was ascertained with a novel deafness-dystonia syndrome with motor regression, ichthyosis-like features and signs of sensory neuropathy. By applying a combined strategy of linkage analysis and whole-exome sequencing in the presented family, a homozygous nonsense mutation, c.4G>T (p.Glu2*), in FITM2 was identified. FITM2 and its paralog FITM1 constitute an evolutionary conserved protein family involved in partitioning of triglycerides into cellular lipid drop...
5 CitationsSource
#1Bonnie NijhofH-Index: 11
Last. Annette SchenckH-Index: 31
view all 9 authors...
Here, we present the image analysis algorithm ‘Drosophila_NMJ_Morphometrics’, available as a Fiji-compatible macro, for quantitative, accurate and objective synapse morphometry of the Drosophila larval neuromuscular junction (NMJ), a well-established glutamatergic model synapse. We developed this methodology for semi-automated multiparametric analyses of NMJ terminals immunolabeled for the commonly used markers Dlg1 and Brp and showed that it also works for Hrp, Csp and Syt.
1 CitationsSource
#1Sahar Esmaeeli-Nieh (MPG: Max Planck Society)H-Index: 3
#2Michaela Fenckova (Radboud University Nijmegen)H-Index: 10
Last. Andreas W. Kuss (University of Greifswald)H-Index: 29
view all 19 authors...
Here we report a stop-mutation in the BOD1 (Biorientation Defective 1) gene, which co-segregates with intellectual disability in a large consanguineous family, where individuals that are homozygous for the mutation have no detectable BOD1 mRNA or protein. The BOD1 protein is required for proper chromosome segregation, regulating phosphorylation of PLK1 substrates by modulating Protein Phosphatase 2A (PP2A) activity during mitosis. We report that fibroblast cell lines derived from homozygous BOD1...
16 CitationsSource