Merel A.W. Oortveld
Radboud University Nijmegen
Publications 11
#1Hanna Niehues (Radboud University Nijmegen)H-Index: 7
#2Lam C. Tsoi (UM: University of Michigan)H-Index: 19
Last.Joost Schalkwijk (Radboud University Nijmegen)H-Index: 50
view all 16 authors...
Terminally differentiating epidermal keratinocytes express a large number of structural and antimicrobial proteins that are involved in the physical barrier function of the stratum corneum and provide innate cutaneous host defense. Late cornified envelope (LCE) genes, located in the epidermal differentiation complex on chromosome 1, encode a family of 18 proteins of unknown function, whose expression is largely restricted to epidermis. Deletion of two members, LCE3B and LCE3C (LCE3B/C-del), is a...
12 CitationsSource
#1Merel A.W. Oortveld (Radboud University Nijmegen)H-Index: 9
#2Ivonne M.J.J. van Vlijmen-Willems (Radboud University Nijmegen)H-Index: 22
Last.Patrick L.J.M. Zeeuwen (Radboud University Nijmegen)H-Index: 35
view all 11 authors...
Deficiency of the cysteine protease inhibitor cystatin M/E (Cst6) in mice leads to disturbed epidermal cornification, impaired barrier function, and neonatal lethality. We report the rescue of the ...
1 CitationsSource
Last.Martijn A. HuynenH-Index: 63
view all 4 authors...
#1Korinna Kochinke (Radboud University Nijmegen)H-Index: 3
#2Christiane Zweier (FAU: University of Erlangen-Nuremberg)H-Index: 35
Last.Annette Schenck (Radboud University Nijmegen)H-Index: 31
view all 13 authors...
Intellectual disability (ID) disorders are genetically and phenotypically extremely heterogeneous. Can this complexity be depicted in a comprehensive way as a means of facilitating the understanding of ID disorders and their underlying biology? We provide a curated database of 746 currently known genes, mutations in which cause ID (ID-associated genes [ID-AGs]), classified according to ID manifestation and associated clinical features. Using this integrated resource, we show that ID-AGs are subs...
82 CitationsSource
#1Aline DubosH-Index: 5
#2Anna Castells-Nobau (Radboud University Nijmegen)H-Index: 8
Last.Yann HeraultH-Index: 35
view all 22 authors...
ATP6AP2, an essential accessory component of the vacuolar H+ ATPase (V-ATPase), has been associated with intellectual disability (ID) and Parkinsonism. ATP6AP2 has been implicated in several signalling pathways; however, little is known regarding its role in the nervous system. To decipher its function in behaviour and cognition, we generated and characterized conditional knockdowns of ATP6AP2 in the nervous system of Drosophila and mouse models. In Drosophila, ATP6AP2 knockdown induced defectiv...
15 CitationsSource
#1Monique van der Voet (Radboud University Nijmegen)H-Index: 12
#2Bonnie Nijhof (Radboud University Nijmegen)H-Index: 11
Last.Annette Schenck (Radboud University Nijmegen)H-Index: 31
view all 4 authors...
The number of genes known to cause human monogenic diseases is increasing rapidly. For the extremely large, genetically and phenotypically heterogeneous group of intellectual disability (ID) disorders, more than 600 causative genes have been identified to date. However, knowledge about the molecular mechanisms and networks disrupted by these genetic aberrations is lagging behind. The fruit fly Drosophila has emerged as a powerful model organism to close this knowledge gap. This review summarizes...
40 CitationsSource
#1Merel A.W. Oortveld (Radboud University Nijmegen)H-Index: 9
#2Shivakumar Keerthikumar (Radboud University Nijmegen)H-Index: 20
Last.Annette Schenck (Radboud University Nijmegen)H-Index: 31
view all 18 authors...
Intellectual Disability (ID) disorders, defined by an IQ below 70, are genetically and phenotypically highly heterogeneous. Identification of common molecular pathways underlying these disorders is crucial for understanding the molecular basis of cognition and for the development of therapeutic intervention strategies. To systematically establish their functional connectivity, we used transgenic RNAi to target 270 ID gene orthologs in the Drosophila eye. Assessment of neuronal function in behavi...
29 CitationsSource
#1Bregje W.M. van Bon (Radboud University Nijmegen)H-Index: 30
#2Merel A.W. Oortveld (Radboud University Nijmegen)H-Index: 9
Last.Annette Schenck (Radboud University Nijmegen)H-Index: 31
view all 23 authors...
It is estimated that the human mitochondrial proteome consists of 1000-1500 distinct proteins. The majority of these support the various biochemical pathways that are active in these organelles. Individuals with an oxidative phosphorylation disorder of unknown cause provide a unique opportunity to identify novel genes implicated in mitochondrial biology. We identified a homozygous deletion of CEP89 in a patient with isolated complex IV deficiency, intellectual disability and multisystemic proble...
23 CitationsSource
#1Jamie M. Kramer (Radboud University Nijmegen Medical Centre)H-Index: 17
#2Korinna Kochinke (Radboud University Nijmegen Medical Centre)H-Index: 3
Last.Annette Schenck (Radboud University Nijmegen Medical Centre)H-Index: 31
view all 14 authors...
The epigenetic modification of chromatin structure and its effect on complex neuronal processes like learning and memory is an emerging field in neuroscience. However, little is known about the “writers” of the neuronal epigenome and how they lay down the basis for proper cognition. Here, we have dissected the neuronal function of the Drosophila euchromatin histone methyltransferase (EHMT), a member of a conserved protein family that methylates histone 3 at lysine 9 (H3K9). EHMT is widely expres...
141 CitationsSource
#1Arijit Mukhopadhyay (CSIR: Council of Scientific and Industrial Research)H-Index: 23
#2Jamie M. Kramer (Radboud University Nijmegen)H-Index: 17
Last.Frans P.M. Cremers (Radboud University Nijmegen)H-Index: 70
view all 15 authors...
Microcephaly, mental retardation and congenital retinal folds along with other systemic features have previously been reported as a separate clinical entity. The sporadic nature of the syndrome and lack of clear inheritance patterns pointed to a genetic heterogeneity. Here, we report a genetic analysis of a female patient with microcephaly, congenital bilateral falciform retinal folds, nystagmus, and mental retardation. Karyotyping revealed a de novo pericentric inversion in chromosome 6 with br...
41 CitationsSource